Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

NARCIS (Netherlands)

Stitziel, Nathan O.; Fouchier, Sigrid W.; Sjouke, Barbara; Peloso, Gina M.; Moscoso, Alessa M.; Auer, Paul L.; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A.; Melander, Olle; Orho-Melander, Marju; Duga, Stefano; Sivapalaratnam, Suthesh; Nikpay, Majid; Martinelli, Nicola; Girelli, Domenico; Jackson, Rebecca D.; Kooperberg, Charles; Lange, Leslie A.; Ardissino, Diego; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Reilly, Muredach P.; Rader, Daniel J.; de Faire, Ulf; Schunkert, Heribert; Erdmann, Jeanette; Samani, Nilesh J.; Charnas, Lawrence; Altshuler, David; Gabriel, Stacey; Kastelein, John J. P.; Defesche, Joep C.; Nederveen, Aart J.; Kathiresan, Sekar; Hovingh, G. Kees

2013-01-01

Objective Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

Science.gov (United States)

Lagerström-Fermér, M; Sundvall, M; Johnsen, E; Warne, G L; Forrest, S M; Zajac, J D; Rickards, A; Ravine, D; Landegren, U; Pettersson, U

1997-01-01

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary. Images Figure 2 PMID:9106538

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.

Science.gov (United States)

Tallapaka, Karthik; Venugopal, Vineeth; Dalal, Ashwin; Aggarwal, Shagun

2018-04-01

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 acts by activating the canonical β-catenin pathway and is one of the most important genes controlling female gonadal differentiation. RSPO1-associated disorders of sex development have been described only in three instances in the past. We report fourth such case with additional findings and perform a comparative review of previous phenotypic descriptions, thereby expanding the clinical phenotype of this syndrome. © 2018 Wiley Periodicals, Inc.

MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.

Science.gov (United States)

Wu, An-Lun; Wang, Jung-Pan; Tseng, Yun-Ju; Liu, Laura; Kang, Yu-Chuan; Chen, Kuan-Jen; Chao, An-Ning; Yeh, Lung-Kun; Chen, Tun-Lu; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun; Wang, Nan-Kai

2018-05-01

To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography. In six X-linked retinitis pigmentosa carriers, fundus appearance varied from unremarkable to the presence of tapetal-like reflex and pigmentary changes. On FAF imaging, all carriers exhibited a bright radial reflex against a dark background. By spectral domain optical coherence tomography, loss of the ellipsoid zone in the macula was observed in 3 carriers (50%). Regarding the retinal laminar architecture, 4 carriers (66.7%) showed thinning of the outer nuclear layer and a dentate appearance of the outer plexiform layer. All five X-linked ocular albinism carriers showed a characteristic mud-splatter patterned fundus, dark radial streaks against a bright background on FAF imaging, and a normal-appearing retinal structure by spectral domain optical coherence tomography imaging. Two of the 3 CHM carriers (66.7%) showed a diffuse moth-eaten appearance of the fundus, and all 3 showed irregular hyper-FAF and hypo-FAF spots throughout the affected area. In the CHM carriers, the structural changes observed by spectral domain optical coherence tomography imaging were variable. Our findings in an Asian cohort suggest that FAF imaging is a practical diagnostic test for differentiating X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM carriers. Wide-field FAF is an easy and helpful adjunct to testing for the correct diagnosis and identification of lyonization in carriers of these three mosaic retinopathies.

Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED).

Science.gov (United States)

Clarke, Angus

2016-06-01

Practical experience of a genetic disorder may influence how parents approach reproduction, if they know their child may be affected by an inherited condition. One important aspect of this practical experience is the stigmatisation which family members may experience or witness. We outline the concept of stigma and how it affects those in families with a condition that impacts upon physical appearance. We then consider the accounts given by females in families affected by the rare sex-linked disorder, X-linked hypohidrotic ectodermal dysplasia (XHED), which principally affects males but can be passed through female carriers to affect their sons. The stigmatisation of affected males is as important in the accounts given by their womenfolk as the physical effects of the condition; this impacts on their talk about transmission of the disorder to the next generation. Perspectives may also change over time. The mothers of affected sons differ from their daughters, who do not yet have children, and from their mothers, who may express more strongly their sense of guilt at having transmitted the condition, despite there being no question of moral culpability. We conclude with suggestions about other contexts where the possibility of stigma may influence reproductive decisions. Copyright © 2016 The Author. Published by Elsevier Ltd.. All rights reserved.

Sex-Linked Behavior: Evolution, Stability, and Variability.

Science.gov (United States)

Fine, Cordelia; Dupré, John; Joel, Daphna

2017-09-01

Common understanding of human sex-linked behaviors is that proximal mechanisms of genetic and hormonal sex, ultimately shaped by the differential reproductive challenges of ancestral males and females, act on the brain to transfer sex-linked predispositions across generations. Here, we extend the debate on the role of nature and nurture in the development of traits in the lifetime of an individual, to their role in the cross-generation transfer of traits. Advances in evolutionary theory that posit the environment as a source of trans-generational stability, and new understanding of sex effects on the brain, suggest that the cross-generation stability of sex-linked patterns of behavior are sometimes better explained in terms of inherited socioenvironmental conditions, with biological sex fostering intrageneration variability. Copyright © 2017 Elsevier Ltd. All rights reserved.

Fulltext PDF

Indian Academy of Sciences (India)

from a normal mother, in B 11-1 inherits the disease from an affected hemizygous father. ... disease. to a sex linked genetic disorder especially a recessive one. The pattern of inheritance of a sex linked dominant disorder is shown in the pedigree depicted inFigure 2 .... There are about 45 X-linked loci identified with mental.

Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

Science.gov (United States)

Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

2014-01-01

Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

OpenAIRE

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively....

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Science.gov (United States)

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

Molecular and clinical studies of X-linked deafness among Pakistani families.

Science.gov (United States)

Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

2011-07-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

Manifestaciones clínicas de la retinosis pigmentaria recesiva ligada al sexo en una portadora Clinical manifestations of recessive retinitis pigmentosa linked to sex in a carrier

Directory of Open Access Journals (Sweden)

Elisa Dyce Gordon

2001-06-01

Full Text Available Se presenta el caso de una portadora del gen mutante causante de la retinosis pigmentaria con herencia recesiva ligada al sexo con un cuadro clínico típico de la enfermedad, de inicio tardío y marcada asimetría de las manifestaciones oftalmológicas entre ambos ojos. Se expone la hipótesis de Lyon para explicar la ocurrencia de este hecho. Se concluye que las heterocigotas pueden manifestarse clínicamente al igual que los varones hemicigotos, por lo que a todas se les debe realizar estudio oftalmológico minucioso para confirmar el estado de portadora, así como para iniciar tratamiento adecuado, de ser necesario.The case of a carrier of the mutant gene causing retinitis pigmentosa with recessive heredity linked to sex with a typical clinical picture of late onset disease and marked assimetry of ophthalmological manifestations between both eyes is presented. Lyon's hypothesis is used to explain the occurrence of this event. It is concluded that heterozygote females may have the same clinical manifestations as hemizigote males. That's why, an ophthalmologic thorough study should be conducted to confirm the state of the carrier as well as to initiate an adequate treatment, if necessary.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Science.gov (United States)

2014-01-01

Background A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Methods Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). Conclusions Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals. PMID:24571530

Examining sex and gender differences in anxiety disorders

DEFF Research Database (Denmark)

Christiansen, Dorte Mølgaard

2015-01-01

provides an overview of research on sex and gender differences in anxiety disorders ranging from the well-established female preponderance in prevalence and severity to possible sex differences in the risk and protective factors associated with anxiety, sex differences in the clinical presentation......Several studies have examined sex differences in different anxiety disorders. Females are repeatedly found to be more likely than males to suffer from anxiety in general and to be diagnosed with most anxiety disorders, including agoraphobia (AG), panic disorder (PD), separation anxiety (SA...... of anxiety disorders, and potential sex differences in the effectiveness of different treatments. The chapter contains suggestions for future research, including important questions that remain to be answered....

The influence of sex and gonadal hormones on sleep disorders

Directory of Open Access Journals (Sweden)

Orff HJ

2014-06-01

Full Text Available Henry J Orff, Charles J Meliska, L Fernando Martinez, Barbara L Parry Department of Psychiatry, University of California, San Diego, CA, USA Abstract: Sleep disorders such as insomnia, sleep-related breathing disorders, circadian rhythm disorders, and sleep-related movement disorders are a significant public health issue, affecting approximately 40 million people in the US each year. Sleep disturbances are observed in both men and women, though prevalence rates often differ between the sexes. In general, research suggests that women more frequently report subjective complaints of insomnia, yet show better sleep than men when evaluated on objective measures of sleep. Men are more likely to be diagnosed with obstructive sleep apnea than women, though rates of obstructive sleep apnea increase after menopause and may be generally underdiagnosed in women. Although circadian rhythm disorders are equally prevalent in men and women, studies find that women typically have earlier bedtimes and exhibit altered temperature and melatonin rhythms relative to men. Lastly, movement disorders appear to be more prevalent in women than men, presumably due to higher rates of anemia and increased risks associated with pregnancy in women. Although gonadal hormones would be expected to play a significant role in the development and/or exacerbation of sleep disturbances, no causal link between these factors has been clearly established. In large part, the impact of hormones on sleep disturbances is significantly confounded by factors such as psychiatric, physical, and lifestyle concerns, which may play an equal or greater role in the development and/or exacerbation of sleep disturbances than do hormonal factors. Current standard of care for persons with sleep disorders includes use of psychological, pharmacologic, and/or medical device supported interventions. Hormonal-based treatments are not typically recommended given the potential for long-term adverse health

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

Science.gov (United States)

Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B

2016-01-01

Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.

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

Science.gov (United States)

... 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development Printable PDF Open ... to view the expand/collapse boxes. Description 46,XX testicular disorder of sex development is a condition ...

Sex differences in stress-related receptors: ″micro″ differences with ″macro″ implications for mood and anxiety disorders

Science.gov (United States)

2013-01-01

Stress-related psychiatric disorders, such as unipolar depression and post-traumatic stress disorder (PTSD), occur more frequently in women than in men. Emerging research suggests that sex differences in receptors for the stress hormones, corticotropin releasing factor (CRF) and glucocorticoids, contribute to this disparity. For example, sex differences in CRF receptor binding in the amygdala of rats may predispose females to greater anxiety following stressful events. Additionally, sex differences in CRF receptor signaling and trafficking in the locus coeruleus arousal center combine to make females more sensitive to low levels of CRF, and less adaptable to high levels. These receptor differences in females could lead to hyperarousal, a dysregulated state associated with symptoms of depression and PTSD. Similar to the sex differences observed in CRF receptors, sex differences in glucocorticoid receptor (GR) function also appear to make females more susceptible to dysregulation after a stressful event. Following hypothalamic pituitary adrenal axis activation, GRs are critical to the negative feedback process that inhibits additional glucocorticoid release. Compared to males, female rats have fewer GRs and impaired GR translocation following chronic adolescent stress, effects linked to slower glucocorticoid negative feedback. Thus, under conditions of chronic stress, attenuated negative feedback in females would result in hypercortisolemia, an endocrine state thought to cause depression. Together, these studies suggest that sex differences in stress-related receptors shift females more easily into a dysregulated state of stress reactivity, linked to the development of mood and anxiety disorders. The implications of these receptor sex differences for the development of novel pharmacotherapies are also discussed. PMID:23336736

Sex differences in stress-related psychiatric disorders: neurobiological perspectives.

Science.gov (United States)

Bangasser, Debra A; Valentino, Rita J

2014-08-01

Stress is associated with the onset and severity of several psychiatric disorders that occur more frequently in women than men, including posttraumatic stress disorder (PTSD) and depression. Patients with these disorders present with dysregulation of several stress response systems, including the neuroendocrine response to stress, corticolimbic responses to negatively valenced stimuli, and hyperarousal. Thus, sex differences within their underlying circuitry may explain sex biases in disease prevalence. This review describes clinical studies that identify sex differences within the activity of these circuits, as well as preclinical studies that demonstrate cellular and molecular sex differences in stress responses systems. These studies reveal sex differences from the molecular to the systems level that increase endocrine, emotional, and arousal responses to stress in females. Exploring these sex differences is critical because this research can reveal the neurobiological underpinnings of vulnerability to stress-related psychiatric disorders and guide the development of novel pharmacotherapies. Copyright © 2014 Elsevier Inc. All rights reserved.

Reliving emotional personal memories: affective biases linked to personality and sex-related differences.

Science.gov (United States)

Denkova, Ekaterina; Dolcos, Sanda; Dolcos, Florin

2012-06-01

Although available evidence suggests that the emotional valence and recollective properties of autobiographical memories (AMs) may be influenced by personality- and sex-related differences, overall these relationships remain poorly understood. The present study investigated these issues by comparing the effect of general personality traits (extraversion and neuroticism) and specific traits linked to emotion regulation (ER) strategies (reappraisal and suppression) on the retrieval of emotional AMs and on the associated postretrieval emotional states, in men and women. First, extraversion predicted recollection of positive AMs in both men and women, whereas neuroticism predicted the proportion of negative AMs in men and the frequency of rehearsing negative AMs in women. Second, reappraisal predicted positive AMs in men, and suppression predicted negative AMs in women. Third, while reliving of positive memories had an overall indirect effect on postretrieval positive mood through extraversion, reliving of negative AMs had a direct effect on postretrieval negative mood, which was linked to inefficient engagement of suppression in women. Our findings suggest that personality traits associated with positive affect predict recollection of positive AMs and maintenance of a positive mood, whereas personality traits associated with negative affect, along with differential engagement of habitual ER strategies in men and women, predict sex-related differences in the recollection and experiencing of negative AMs. These findings provide insight into the factors that influence affective biases in reliving AMs, and into their possible link to sex-related differences in the susceptibility to affective disorders.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Energy Technology Data Exchange (ETDEWEB)

Rossi, Massimiliano; Edery, Patrick [Hospices Civils de Lyon, Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mere-Enfant Hospital, Bron (France); INSERM U1028 UMR CNRS 5,292, UCBL, CRNL TIGER Team, CH le Vinater, Bron (France); Hall, Christine M. [Retired from Department of Radiology, Great Ormond Street Hospital, London (United Kingdom); Bouvier, Raymonde; Collardeau-Frachon, Sophie [Hospices Civils de Lyon, Department of Pathology, CBPE, Bron (France); Le Breton, Frederique [Hospices Civils de Lyon, Department of Pathology, Croix-Rousse Hospital, Lyon (France); Bucourt, Martine [AP-HP, Foetopathology Unit, Jean Verdier Hospital, Bondy (France); Cordier, Marie Pierre [Hospices Civils de Lyon, Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mere-Enfant Hospital, Bron (France); Vianey-Saban, Christine [Hospices Civils de Lyon, Department of Inborn Errors of Metabolism and Neonatal Screening, CBPE, Bron (France); Parenti, Giancarlo; Andria, Generoso [Federico II University, Department of Translational Medical Sciences, Section of Pediatrics, Naples (Italy); Le Merrer, Martine [AP-HP, Genetic Department, Referal Centre for Skeletal Dysplasias, Institut Imagine, Necker-Enfants Malades Hospital, Paris (United Kingdom); Offiah, Amaka C. [Stephenson Wing Sheffield Children' s NHS Foundation Trust Western Bank, Radiology Department, Children' s Hospital, Academic Unit of Child Health Room C4, Sheffield (United Kingdom)

2015-07-15

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. (orig.)

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

International Nuclear Information System (INIS)

Rossi, Massimiliano; Edery, Patrick; Hall, Christine M.; Bouvier, Raymonde; Collardeau-Frachon, Sophie; Le Breton, Frederique; Bucourt, Martine; Cordier, Marie Pierre; Vianey-Saban, Christine; Parenti, Giancarlo; Andria, Generoso; Le Merrer, Martine; Offiah, Amaka C.

2015-01-01

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. (orig.)

Sex Bias in Classifying Borderline and Narcissistic Personality Disorder.

Science.gov (United States)

Braamhorst, Wouter; Lobbestael, Jill; Emons, Wilco H M; Arntz, Arnoud; Witteman, Cilia L M; Bekker, Marrie H J

2015-10-01

This study investigated sex bias in the classification of borderline and narcissistic personality disorders. A sample of psychologists in training for a post-master degree (N = 180) read brief case histories (male or female version) and made DSM classification. To differentiate sex bias due to sex stereotyping or to base rate variation, we used different case histories, respectively: (1) non-ambiguous case histories with enough criteria of either borderline or narcissistic personality disorder to meet the threshold for classification, and (2) an ambiguous case with subthreshold features of both borderline and narcissistic personality disorder. Results showed significant differences due to sex of the patient in the ambiguous condition. Thus, when the diagnosis is not straightforward, as in the case of mixed subthreshold features, sex bias is present and is influenced by base-rate variation. These findings emphasize the need for caution in classifying personality disorders, especially borderline or narcissistic traits.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

Science.gov (United States)

Gagliardi, Assunta; Besio, Roberta; Carnemolla, Chiara; Landi, Claudia; Armini, Alessandro; Aglan, Mona; Otaify, Ghada; Temtamy, Samia A; Forlino, Antonella; Bini, Luca; Bianchi, Laura

2017-09-07

Osteogenesis imperfecta (OI) is a collagen-related disorder associated to dominant, recessive or X-linked transmission, mainly caused by mutations in type I collagen genes or in genes involved in type I collagen metabolism. Among the recessive forms, OI types VII, VIII, and IX are due to mutations in CRTAP, P3H1, and PPIB genes, respectively. They code for the three components of the endoplasmic reticulum complex that catalyzes 3-hydroxylation of type I collagen α1Pro986. Under-hydroxylation of this residue leads to collagen structural abnormalities and results in moderate to lethal OI phenotype, despite the exact molecular mechanisms are still not completely clear. To shed light on these recessive forms, primary fibroblasts from OI patients with mutations in CRTAP (n=3), P3H1 (n=3), PPIB (n=1) genes and from controls (n=4) were investigated by a functional proteomic approach. Cytoskeleton and nucleoskeleton asset, protein fate, and metabolism were delineated as mainly affected. While western blot experiments confirmed altered expression of lamin A/C and cofilin-1, immunofluorescence analysis using antibody against lamin A/C and phalloidin showed an aberrant organization of nucleus and cytoskeleton. This is the first report describing an altered organization of intracellular structural proteins in recessive OI and pointing them as possible novel target for OI treatment. OI is a prototype for skeletal dysplasias. It is a highly heterogeneous collagen-related disorder with dominant, recessive and X-linked transmission. There is no definitive cure for this disease, thus a better understanding of the molecular basis of its pathophysiology is expected to contribute in identifying potential targets to develop new treatments. Based on this concept, we performed a functional proteomic study to delineate affected molecular pathways in primary fibroblasts from recessive OI patients, carrying mutations in CRTAP (OI type VII), P3H1 (OI type VIII), and PPIB (OI type IX) genes

Sex differences in sleep disordered breathing in adults.

Science.gov (United States)

Lozo, Tijana; Komnenov, Dragana; Badr, M Safwan; Mateika, Jason H

2017-11-01

The prevalence of sleep disordered breathing is greater in men compared to women. This disparity could be due to sex differences in the diagnosis and presentation of sleep apnea, and the pathophysiological mechanisms that instigate this disorder. Women tend to report more non-typical symptoms of sleep apnea compared to men, and the presentation of apneic events are more prevalent in rapid compared to non-rapid eye movement sleep. In addition, there is evidence of sex differences in upper airway structure and mechanics and in neural mechanisms that impact on the control of breathing. The purpose of this review is to summarize the literature that addresses sex differences in sleep-disordered breathing, and to discuss the influence that upper airway mechanics, chemoreflex properties, and sex hormones have in modulating breathing during sleep in men and women. Published by Elsevier B.V.

New segregation analysis of panic disorder

Energy Technology Data Exchange (ETDEWEB)

Vieland, V.J.; Fyer, A.J.; Chapman, T. [Columbia Univ., New York, NY (United States)] [and others

1996-04-09

We performed simple segregation analyses of panic disorder using 126 families of probands with DSM-III-R panic disorder who were ascertained for a family study of anxiety disorders at an anxiety disorders research clinic. We present parameter estimates for dominant, recessive, and arbitrary single major locus models without sex effects, as well as for a nongenetic transmission model, and compare these models to each other and to models obtained by other investigators. We rejected the nongenetic transmission model when comparing it to the recessive model. Consistent with some previous reports, we find comparable support for dominant and recessive models, and in both cases estimate nonzero phenocopy rates. The effect of restricting the analysis to families of probands without any lifetime history of comorbid major depression (MDD) was also examined. No notable differences in parameter estimates were found in that subsample, although the power of that analysis was low. Consistency between the findings in our sample and in another independently collected sample suggests the possibility of pooling such samples in the future in order to achieve the necessary power for more complex analyses. 32 refs., 4 tabs.

Different perspectives on the sex-attachment link: towards an emotion-motivational account.

Science.gov (United States)

Dewitte, Marieke

2012-01-01

Although the link between sex and attachment was made decades ago (Hazan & Shaver, 1987), theories on sexual and attachment functioning have been developed in relative isolation. Recent efforts to integrate both literatures have been complicated by the fact that the sex-attachment link has been approached from very different perspectives, including biological, evolutionary, developmental, cognitive, and social psychology approaches. Also, at the empirical level, research on sex and attachment lacks overarching synthesis. This article gives an overview of the most important theoretical ideas and empirical insights on sex and attachment. It starts with describing general models that approach the sex-attachment link from an evolutionary and neurobiological perspective. Then, it summarizes theoretical and empirical ideas of attachment theory and describes how attachment style differences are manifested in intimate and sexual relationships. Research so far has been limited to studying the predicted link between sex and attachment in terms of broad descriptives, and it would benefit the literature to specify the processes and pathways that mediate the sex-attachment link. After a short discussion of the functional similarities between the sexual and the attachment systems, the article describes some specific--dynamical--models that focus on the emotional and cognitive-motivational processes through which attachment schemas influence sexual experiences. Such an emotion-motivational perspective on sex and attachment can help to organize theoretical ideas and empirical findings and eventually promote an integrative view on how attachment dynamics can interact with sexual experiences.

Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

Science.gov (United States)

Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan GM

2016-01-01

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. PMID:26802113

Borderline personality disorder and regularly drinking alcohol before sex.

Science.gov (United States)

Thompson, Ronald G; Eaton, Nicholas R; Hu, Mei-Chen; Hasin, Deborah S

2017-07-01

Drinking alcohol before sex increases the likelihood of engaging in unprotected intercourse, having multiple sexual partners and becoming infected with sexually transmitted infections. Borderline personality disorder (BPD), a complex psychiatric disorder characterised by pervasive instability in emotional regulation, self-image, interpersonal relationships and impulse control, is associated with substance use disorders and sexual risk behaviours. However, no study has examined the relationship between BPD and drinking alcohol before sex in the USA. This study examined the association between BPD and regularly drinking before sex in a nationally representative adult sample. Participants were 17 491 sexually active drinkers from Wave 2 of the National Epidemiologic Survey on Alcohol and Related Conditions. Logistic regression models estimated effects of BPD diagnosis, specific borderline diagnostic criteria and BPD criterion count on the likelihood of regularly (mostly or always) drinking alcohol before sex, adjusted for controls. Borderline personality disorder diagnosis doubled the odds of regularly drinking before sex [adjusted odds ratio (AOR) = 2.26; confidence interval (CI) = 1.63, 3.14]. Of nine diagnostic criteria, impulsivity in areas that are self-damaging remained a significant predictor of regularly drinking before sex (AOR = 1.82; CI = 1.42, 2.35). The odds of regularly drinking before sex increased by 20% for each endorsed criterion (AOR = 1.20; CI = 1.14, 1.27) DISCUSSION AND CONCLUSIONS: This is the first study to examine the relationship between BPD and regularly drinking alcohol before sex in the USA. Substance misuse treatment should assess regularly drinking before sex, particularly among patients with BPD, and BPD treatment should assess risk at the intersection of impulsivity, sexual behaviour and substance use. [Thompson Jr RG, Eaton NR, Hu M-C, Hasin DS Borderline personality disorder and regularly drinking alcohol

Status of sex reassignment surgery for gender identity disorder in Japan.

Science.gov (United States)

Masumori, Naoya

2012-05-01

An incongruence between one's physiological sex and the gender identity that is one's basic sense of self as a man or a woman is known as gender identity disorder. In general, the conditions of physiological men having female gender identity and physiological women having male gender identity are called male-to-female and female-to-male gender identity disorder, respectively. Although the precise pathogenesis of gender identity disorder remains unclear, the prevalence of gender identity disorder is quite high, with the rates calculated for male-to-female to be 1:25,000 and female-to-male to be 1:12,000 in Hokkaido, Japan. The diagnosis and treatment of gender identity disorder in Japan are based on the Diagnostic and Therapeutic Guidelines for Patients with Gender Identity Disorder, 4th edition. Although gender identity disorder was previously thought to be a psychiatric condition, it is extremely difficult to assign gender identity to physiological sex by psychiatric and psychological treatments. To adapt the figure of the body to the native gender identity, physical treatments such as administration of cross-sex steroids and sex reassignment surgery are considered. However, there are very few institutions that routinely carry out sex reassignment surgery in Japan, even though it is mandatory for changing sex on the census register at the present time. Sex reassignment surgery for male-to-female and female-to-male patients includes orchiectomy, penectomy, clitoroplasty, vaginoplasty and vulvoplasty, and hysterectomy, ovariectomy, metoidioplasty and phalloplasty, respectively. To provide accurate information about physical treatment for patients with gender identity disorder, even urologists who are not actively involved in the diagnosis and treatment of gender identity disorder should understand the fundamental aspects and contemporary problems of gender identity disorder. © 2012 The Japanese Urological Association.

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

NARCIS (Netherlands)

Hellemans, J; Coucke, PJ; Giedion, A; De Paepe, A; Kramer, P; Beemer, F; Mortier, GR

Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genome-wide homozygosity mapping in two consanguineous families linked the

Autosomal recessive polycystic kidney disorder due to two novel compound heterozygote mutations in PKHD1 gene: case report

Directory of Open Access Journals (Sweden)

Mohammad Miryounesi

2017-01-01

Full Text Available Background: Autosomal recessive polycystic kidney disorder (ARPCKD is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in neonatal and childhood period. PKHD1 gene located on chromosome 6 is linked with this disorder. About half of detected mutations in this gene are missense ones. The largest protein product of this gene is called the FPC/polyductin complex (FPC. It is a single-membrane spanning protein whose absence leads to abnormal ciliogenesis in the kidneys. Case presentation: Here we present a 5-year-old female patient affected with ARPCKD. She has been born to a non-consanguineous healthy Iranian parents. No similar disorder has been seen in the family. Prenatal history has been normal. In order to find the genetic background, DNA was extracted from patient's peripheral blood lymphocytes. PKHD1 gene exons and exon-intron boundaries were sequenced using next generation sequencing platform. Two novel variants have been detected in compound heterozygote state in the patient (c.6591C>A, c.8222C>A. Bioinformatics tools predicted these variants to be pathogenic. Conclusion: In the present study, we detected two novel variants in PKHD1 gene in a patient with ARPCKD. The relatively mild phenotype of this patient is in accordance with the missense mutations found. Molecular genetic tools can help in accurate risk assessment as well as precise genotype-phenotype correlation establishment in families affected with such disorder to decrease the birth of affected individuals through preimplantation genetic diagnosis or better management of disorder.

Possible X linked congenital mitochondrial cardiomyopathy in three families.

OpenAIRE

Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

1993-01-01

Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

Sex-related and non-sex-related comorbidity subtypes of tic disorders: a latent class approach.

Science.gov (United States)

Rodgers, S; Müller, M; Kawohl, W; Knöpfli, D; Rössler, W; Castelao, E; Preisig, M; Ajdacic-Gross, V

2014-05-01

Recent evidence suggests that there may be more than one Gilles de la Tourette syndrome (GTS)/tic disorder phenotype. However, little is known about the common patterns of these GTS/tic disorder-related comorbidities. In addition, sex-specific phenomenological data of GTS/tic disorder-affected adults are rare. Therefore, this community-based study used latent class analyses (LCA) to investigate sex-related and non-sex-related subtypes of GTS/tic disorders and their most common comorbidities. The data were drawn from the PsyCoLaus study (n = 3691), a population-based survey conducted in Lausanne, Switzerland. LCA were performed on the data of 80 subjects manifesting motor/vocal tics during their childhood/adolescence. Comorbid attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depressive, phobia and panic symptoms/syndromes comprised the selected indicators. The resultant classes were characterized by psychosocial correlates. In LCA, four latent classes provided the best fit to the data. We identified two male-related classes. The first class exhibited both ADHD and depression. The second class comprised males with only depression. Class three was a female-related class depicting obsessive thoughts/compulsive acts, phobias and panic attacks. This class manifested high psychosocial impairment. Class four had a balanced sex proportion and comorbid symptoms/syndromes such as phobias and panic attacks. The complementary occurrence of comorbid obsessive thoughts/compulsive acts and ADHD impulsivity was remarkable. To the best of our knowledge, this is the first study applying LCA to community data of GTS symptoms/tic disorder-affected persons. Our findings support the utility of differentiating GTS/tic disorder subphenotypes on the basis of comorbid syndromes. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.

Sex bias in classifying borderline and narcissistic personality disorder

NARCIS (Netherlands)

Braamhorst, W.; Lobbestael, J.; Emons, W.H.M.; Arntz, A.; Witteman, C.L.M.; Bekker, M.H.J.

2015-01-01

This study investigated sex bias in the classification of borderline and narcissistic personality disorders. A sample of psychologists in training for a post-master degree (N = 180) read brief case histories (male or female version) and made DSM classification. To differentiate sex bias due to sex

Playing fair: the contribution of high-functioning recess to overall school climate in low-income elementary schools.

Science.gov (United States)

London, Rebecca A; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey

2015-01-01

Recess is a part of the elementary school day with strong implications for school climate. Positive school climate has been linked to a host of favorable student outcomes, from attendance to achievement. We examine 6 low-income elementary schools' experiences implementing a recess-based program designed to provide safe, healthy, and inclusive play to study how improving recess functioning can affect school climate. Data from teacher, principal, and recess coach interviews; student focus groups; recess observations; and a teacher survey are triangulated to understand the ways that recess changed during implementation. Comparing schools that achieved higher- and lower-functioning recesses, we link recess functioning with school climate. Recess improved in all schools, but 4 of the 6 achieved a higher-functioning recess. In these schools, teachers and principals agreed that by the end of the year, recess offered opportunities for student engagement, conflict resolution, pro-social skill development, and emotional and physical safety. Respondents in these four schools linked these changes to improved overall school climate. Recess is an important part of the school day for contributing to school climate. Creating a positive recess climate helps students to be engaged in meaningful play and return to class ready to learn. © 2014, American School Health Association.

Sex differences in life span: Females homozygous for the X chromosome do not suffer the shorter life span predicted by the unguarded X hypothesis.

Science.gov (United States)

Brengdahl, Martin; Kimber, Christopher M; Maguire-Baxter, Jack; Friberg, Urban

2018-03-01

Life span differs between the sexes in many species. Three hypotheses to explain this interesting pattern have been proposed, involving different drivers: sexual selection, asymmetrical inheritance of cytoplasmic genomes, and hemizygosity of the X(Z) chromosome (the unguarded X hypothesis). Of these, the unguarded X has received the least experimental attention. This hypothesis suggests that the heterogametic sex suffers a shortened life span because recessive deleterious alleles on its single X(Z) chromosome are expressed unconditionally. In Drosophila melanogaster, the X chromosome is unusually large (∼20% of the genome), providing a powerful model for evaluating theories involving the X. Here, we test the unguarded X hypothesis by forcing D. melanogaster females from a laboratory population to express recessive X-linked alleles to the same degree as males, using females exclusively made homozygous for the X chromosome. We find no evidence for reduced life span or egg-to-adult viability due to X homozygozity. In contrast, males and females homozygous for an autosome both suffer similar, significant reductions in those traits. The logic of the unguarded X hypothesis is indisputable, but our results suggest that the degree to which recessive deleterious X-linked alleles depress performance in the heterogametic sex appears too small to explain general sex differences in life span. © 2018 The Author(s). Evolution © 2018 The Society for the Study of Evolution.

Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance.

Science.gov (United States)

Toufaily, M Hassan; Westgate, Marie-Noel; Nasri, Hanah; Holmes, Lewis B

2018-01-01

The number of malformations attributed to mutations with autosomal or X-linked patterns of inheritance has increased steadily since the cataloging began in the 1960s. These diagnoses have been based primarily on the pattern of phenotypic features among close relatives. A malformations surveillance program conducted in consecutive pregnancies can identify both known and "new" hereditary disorders. The Active Malformations Surveillance Program was carried out among 289,365 births over 41 years (1972-2012) at Brigham and Women's Hospital in Boston. The findings recorded by examining pediatricians and all consultants were reviewed by study clinicians to establish the most likely diagnoses. The findings in laboratory testing in the newborn period were reviewed, as well. One hundred ninety-six (0.06%) infants among 289,365 births had a malformation or malformation syndrome that was attributed to Mendelian inheritance. A total of 133 (68%) of the hereditary malformations were attributed to autosomal dominant inheritance, with 94 (71%) attributed to apparent spontaneous mutations. Forty-six (23%) were attributed to mutations with autosomal recessive inheritance, 17 associated with consanguinity. Seventeen (9%) were attributed to X-linked inheritance. Fifteen novel familial phenotypes were identified. The family histories showed that most (53 to 71%) of the affected infants were born, as a surprise, to healthy, unaffected parents. It is important for clinicians to discuss with surprised healthy parents how they can have an infant with an hereditary condition. Future studies, using DNA samples from consecutive populations of infants with malformations and whole genome sequencing, will identify many more mutations in loci associated with mendelizing phenotypes. Birth Defects Research 110:92-97, 2018.© 2018 Wiley Periodicals, Inc. © 2018 Wiley Periodicals, Inc.

Sex differences in depression and anxiety disorders: potential biological determinants.

Science.gov (United States)

Altemus, Margaret

2006-11-01

The phenomenon of higher rates of affective disorders in women illustrates many of the difficulties as well as promises of translating preclinical models to human disorders. Abnormalities in the regulation of the hypothalamic-pituitary adrenal axis and the sympathoadrenomedullary system have been identified in depression and anxiety disorders, and these disorders are clearly precipitated and exacerbated by stress. Despite the striking sex difference in the prevalence of depression and anxiety disorders, attempts to identify corresponding sex differences in stress response reactivity in animal models have met with limited success. Processes which may contribute to increased rates of affective disorders in women are greater fluxes in reproductive hormones across the life span, and increased sensitivity to catecholamine augmentation of emotional memory consolidation.

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

Energy Technology Data Exchange (ETDEWEB)

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

1994-09-01

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.

Conservation of Sex-Linked Markers among Conspecific Populations of a Viviparous Skink, Niveoscincus ocellatus, Exhibiting Genetic and Temperature-Dependent Sex Determination

Science.gov (United States)

Burridge, Christopher P; Ezaz, Tariq; Wapstra, Erik

2018-01-01

Abstract Sex determination systems are exceptionally diverse and have undergone multiple and independent evolutionary transitions among species, particularly reptiles. However, the mechanisms underlying these transitions have not been established. Here, we tested for differences in sex-linked markers in the only known reptile that is polymorphic for sex determination system, the spotted snow skink, Niveoscincus ocellatus, to quantify the genomic differences that have accompanied this transition. In a highland population, sex is determined genetically, whereas in a lowland population, offspring sex ratio is influenced by temperature. We found a similar number of sex-linked loci in each population, including shared loci, with genotypes consistent with male heterogamety (XY). However, population-specific linkage disequilibrium suggests greater differentiation of sex chromosomes in the highland population. Our results suggest that transitions between sex determination systems can be facilitated by subtle genetic differences. PMID:29659810

Economic recession and suicidal behaviour: Possible mechanisms and ameliorating factors.

Science.gov (United States)

Haw, Camilla; Hawton, Keith; Gunnell, David; Platt, Stephen

2015-02-01

A growing body of research evidence from countries around the world indicates that economic recession is associated with increases in suicide, particularly in males of working age. To explore contributory and ameliorating factors associated with economic recession and suicide and thereby stimulate further research in this area and encourage policy makers to consider how best to reduce the impact of recession on mental health and suicidal behaviour. We conducted a selective review of the worldwide literature focusing on possible risk factors, mechanisms and preventative strategies for suicidal behaviour linked to economic recession. A model of how recession might affect suicide rates is presented. A major and often prolonged effect of recession is on unemployment and job insecurity. Other important effects include those exerted by financial loss, bankruptcy and home repossession. It is proposed these factors may lead directly or indirectly to mental health problems such as depression, anxiety and binge drinking and then to suicidal behaviour. Countries with active labour market programmes and sustained welfare spending during recessions have less marked increases in suicide rates than those that cut spending on welfare and job-search initiatives for the unemployed. Other measures likely to help include targeted interventions for unemployed people, membership of social organisations and responsible media reporting. Good primary care and mental health services are needed to cope with increased demand in times of economic recession but some governments have in fact reduced healthcare spending as an austerity measure. The research evidence linking recession, unemployment and suicide is substantial, but the evidence for the other mechanisms we have investigated is much more tentative. We describe the limitations of the existing body of research as well as make suggestions for future research into the effects of economic recession on suicidal behaviour. © The Author

Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

Directory of Open Access Journals (Sweden)

Sangita Ghosh

2014-01-01

Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

Sex steroid-related candidate genes in psychiatric disorders.

Science.gov (United States)

Westberg, Lars; Eriksson, Elias

2008-07-01

Sex steroids readily pass the blood-brain barrier, and receptors for them are abundant in brain areas important for the regulation of emotions, cognition and behaviour. Animal experiments have revealed both important early effects of these hormones on brain development and their ongoing influence on brain morphology and neurotransmission in the adult organism. The important effects of sex steroids on human behaviour are illustrated by, for example, the effect of reduced levels of these hormones on sexual drive and conditions such as premenstrual dysphoric disorder, perimenopausal dysphoria, postpartum depression, postpartum psychosis, dysphoria induced by oral contraceptives or hormonal replacement therapy and anabolic steroid-induced aggression. The fact that men and women (as groups) differ with respect to the prevalence of several psychiatric disorders, certain aspects of cognitive function and certain personality traits may possibly also reflect an influence of sex steroids on human behaviour. The heritability of most behavioural traits, including personality, cognitive abilities and susceptibility to psychiatric illness, is considerable, but as yet, only few genes of definite importance in this context have been identified. Given the important role of sex steroids for brain function, it is unfortunate that relatively few studies so far have addressed the possible influence of sex steroid-related genes on interindividual differences with respect to personality, cognition and susceptibility to psychiatric disorders. To facilitate further research in this area, this review provides information on several such genes and summarizes what is currently known with respect to their possible influence on brain function.

Isolation of a sex-linked DNA sequence in cranes.

Science.gov (United States)

Duan, W; Fuerst, P A

2001-01-01

A female-specific DNA fragment (CSL-W; crane sex-linked DNA on W chromosome) was cloned from female whooping cranes (Grus americana). From the nucleotide sequence of CSL-W, a set of polymerase chain reaction (PCR) primers was identified which amplify a 227-230 bp female-specific fragment from all existing crane species and some other noncrane species. A duplicated versions of the DNA segment, which is found to have a larger size (231-235 bp) than CSL-W in both sexes, was also identified, and was designated CSL-NW (crane sex-linked DNA on non-W chromosome). The nucleotide similarity between the sequences of CSL-W and CSL-NW from whooping cranes was 86.3%. The CSL primers do not amplify any sequence from mammalian DNA, limiting the potential for contamination from human sources. Using the CSL primers in combination with a quick DNA extraction method allows the noninvasive identification of crane gender in less than 10 h. A test of the methodology was carried out on fully developed body feathers from 18 captive cranes and resulted in 100% successful identification.

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

Science.gov (United States)

Thomas, P K; Claus, D; King, R H

1999-02-01

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

Inherited XX sex reversal originating from wild medaka populations.

Science.gov (United States)

Shinomiya, A; Otake, H; Hamaguchi, S; Sakaizumi, M

2010-11-01

The teleost fish, medaka (Oryzias latipes), has an XX/XY sex-determining mechanism. A Y-linked DM domain gene, DMY, has been isolated by positional cloning as the sex-determining gene in this species. Previously, we conducted a field survey of genotypic sex and found that approximately 1% of wild medaka are sex-reversed (XX males and XY females). Here, we performed genetic analyses of nine spontaneous XX sex-reversed males to elucidate its genetic basis. In all cases, the F(1) progeny were all females, whereas XX males reappeared in the backcross (BC) progeny, suggesting that XX sex reversal is a recessive trait. Although the incidences of sex reversal in the BC progeny were mostly low, 40% were males derived from one XX male. We performed linkage analysis using 55 BC males and located a single major factor, sda-1 (sex-determining autosomal factor-1), controlling sex reversal in an autosomal linkage group. Thus, genes involved in the sex-determining pathway can be isolated from spontaneous mutants in wild populations.

Gender and Race/Ethnicity Differences in Mental Health Care Use before and during the Great Recession.

Science.gov (United States)

Chen, Jie; Dagher, Rada

2016-04-01

This study examines the changes in health care utilization for mental health disorders among patients who were diagnosed with depressive and/or anxiety disorders during the Great Recession 2007-2009 in the USA. Negative binomial regressions are used to estimate the association of the economic recession and mental health care use for females and males separately. Results show that prescription drug utilization (e.g., antidepressants, psychotropic medications) increased significantly during the economic recession 2007-2009 for both females and males. Physician visits for mental health disorders decreased during the same period. Results show that racial disparities in mental health care might have increased, while ethnic disparities persisted during the Great Recession. Future research should separately examine mental health care utilization by gender and race/ethnicity.

Sex and gender differences in substance use disorders.

Science.gov (United States)

McHugh, R Kathryn; Votaw, Victoria R; Sugarman, Dawn E; Greenfield, Shelly F

2017-11-10

The gender gap in substance use disorders (SUDs), characterized by greater prevalence in men, is narrowing, highlighting the importance of understanding sex and gender differences in SUD etiology and maintenance. In this critical review, we provide an overview of sex/gender differences in the biology, epidemiology and treatment of SUDs. Biological sex differences are evident across an array of systems, including brain structure and function, endocrine function, and metabolic function. Gender (i.e., environmentally and socioculturally defined roles for men and women) also contributes to the initiation and course of substance use and SUDs. Adverse medical, psychiatric, and functional consequences associated with SUDs are often more severe in women. However, men and women do not substantively differ with respect to SUD treatment outcomes. Although several trends are beginning to emerge in the literature, findings on sex and gender differences in SUDs are complicated by the interacting contributions of biological and environmental factors. Future research is needed to further elucidate sex and gender differences, especially focusing on hormonal factors in SUD course and treatment outcomes; research translating findings between animal and human models; and gender differences in understudied populations, such as those with co-occurring psychiatric disorders and gender-specific populations, such as pregnant women. Copyright © 2017 Elsevier Ltd. All rights reserved.

Sex Differences in Internalizing Problems during Adolescence in Autism Spectrum Disorder

Science.gov (United States)

Oswald, Tasha M.; Winter-Messiers, Mary Ann; Gibson, Brandon; Schmidt, Alexandra M.; Herr, Cynthia M.; Solomon, Marjorie

2016-01-01

We hypothesized that the double hit conferred by sex and diagnosis increases the risk for internalizing disorders in adolescent females with autism spectrum disorder (ASD). In a sample of 32 adolescents with ASD and 32 controls, we examined the effects of sex, diagnostic factors, and developmental stages on depression and anxiety. A 3-way…

A familial disorder with low bone density and renal phosphate wasting.

NARCIS (Netherlands)

Grondel, I.M.; Deure, J. van der; Zanen, A.L.; Dogger, M.; Heuvel, L.P.W.J. van den

2009-01-01

Hereditary forms of renal phosphate wasting have been studied thoroughly in the past years. X-linked Hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and autosomal recessive hypophosphatemic rickets (ARHR) are known genetic disorders in which a

[From a categorical diagnostic approach to a dimensional approach for mental disorders: interest of sex differences].

Science.gov (United States)

Tordjman, S

2006-01-01

showing autistic disorder aged two and half years old and who evolved positively; in contrast we have observed that parents bring their son for professional advice later, after kindergarten begins. Finally, a more complex, non-linear model is proposed in which biological genetic factors (such as sex-linked chromosomes) and/or hormonal factors (such as sex hormones) may play a role in differentiation of girls' and boys' behavior from birth. These different behaviors would induce differentiated expectations and attitudes in parents depending on the child's gender, which in turn would reinforce sex-related characteristic behaviors in the child. Thus, there may be a continuum in different behavioral domains (for example, boys would interact and communicate less than girls, and girls would express more their emotions), with mental disorders occurring at the extremes of this continuum (for example, autistic disorder for certain boys and anxiety disorder for certain girls). This hypothesis fits within an integrated psycho-biological approach that takes into account sex differences in mental disorders; it stems from a model in which a dimensional conception of mental disorders replaces a categorical nosographical one. New perspectives could be envisioned concerning the identification, follow-up and treatment of mental disorders (or sub-types of mental disorders), which are currently considered to belong to different nosographical categories, but which could overlap through shared common dimensions.

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

Science.gov (United States)

Palin, Eino J H; Hakonen, Anna H; Korpela, Mari; Paetau, Anders; Suomalainen, Anu

2012-04-15

We studied the genetic background of a family with SCA, showing dominant inheritance and anticipation. Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS. The healthy father was a heterozygous carrier for the same mutation. Recessively inherited MIRAS mutations should be tested in dominantly inherited SCAs cases of unknown cause, as the high carrier frequency of MIRAS may result in two independent introductions of the mutant allele in the family and thereby mimic dominant inheritance. Copyright © 2011 Elsevier B.V. All rights reserved.

X-linked ichthyosis along with epidermolysis bullosa

Directory of Open Access Journals (Sweden)

Shambulingappa Pallagatti

2012-01-01

Full Text Available Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation.In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

A Comparison of Selective Pressures in Plant X-Linked and Autosomal Genes.

Science.gov (United States)

Krasovec, Marc; Nevado, Bruno; Filatov, Dmitry A

2018-05-03

Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes. Our analysis, based on over 1000 genes, demonstrated that, similar to animals, X-linked genes in Silene evolve significantly faster than autosomal genes—the so-called faster-X effect. Contrary to expectations, faster-X divergence was detectable only for non-hemizygous X-linked genes. Our phylogeny-based analyses of selection revealed no evidence for faster adaptation in X-linked genes compared to autosomal genes. On the other hand, partial relaxation of purifying selection was apparent on the X-chromosome compared to the autosomes, consistent with a smaller genetic diversity in S. latifolia X-linked genes (π x = 0.016; π aut = 0.023). Thus, the faster-X divergence in S. latifolia appears to be a consequence of the smaller effective population size rather than of a faster adaptive evolution on the X-chromosome. We argue that this may be a general feature of “young” sex chromosomes, where the majority of X-linked genes are not hemizygous, preventing haploid selection in heterogametic sex.

Does Sex Influence the Diagnostic Evaluation of Autism Spectrum Disorder in Adults?

Science.gov (United States)

Wilson, C. Ellie; Murphy, Clodagh M.; McAlonan, Grainne; Robertson, Dene M.; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P. Quinton; Gillan, Nicola; Ohlsen, J. Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C.; Murphy, Declan G. M.

2016-01-01

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1,244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more…

46,XX T testicular disorder of sex development. Case report.

Science.gov (United States)

Pastor Guzmán, José María; Pastor Navarro, Hector; Quintanilla Mata, María Luisa; Carrión López, Pedro; Martínez Ruíz, Jesús; Martínez Sanchiz, Carlos; Perán Teruel, Miguel; Virseda Rodríguez, Julio Antonio

2011-06-01

We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature. Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a cytogenetic study of peripheral blood (phytohemagglutinin-timulated lymphocyte culture over 72 hours). G-banding analysis of 25 metaphases showed a 46,XX chromosome constitution (46 chromosomes with XX sexual composition). Fluorescence in situ hybridization (FISH) analysis with probes for X centromeres and the sex-determining region of the Y chromosome (SRY) (testis-determining factor gene) showed two X chromosomes. The analysis also showed the SRY signal in the telomeric region of the short arm of one of the chromosomes. In recent years, a number of other genes involved in disorders of sex development in animals and humans have also been identified. Genetic defects in the peptide hormone receptors, members of the steroid receptor superfamily, and other transcription factors, as well as any of a series of enzymes and cofactors involved in steroid biosynthesis can cause abnormal determination and differentiation. Although chromosomal abnormalities are rarely present in patients with apparently normal external genitalia, they should be considered in urology consultations by adolescents and adults, particularly in the investigation of gynecomastia or infertility.

Family functioning in the context of parental bipolar disorder: associations with offspring age, sex, and psychopathology.

Science.gov (United States)

Freed, Rachel D; Tompson, Martha C; Wang, Christine H; Otto, Michael W; Hirshfeld-Becker, Dina R; Nierenberg, Andrew A; Henin, Aude

2015-02-01

Previous research has shown that families with a parent who has bipolar disorder (BD) may experience family functioning difficulties. However, the association between family functioning and psychopathology among offspring of parents with BD, and offspring characteristics that may moderate this association, remains poorly understood. This study examined the cross-sectional associations between family functioning (cohesion, expressiveness, and conflict) and psychopathology in 117 offspring (ages 5-18) of 75 parents with BD. We also examined whether age and sex differences moderated these associations. We measured offspring psychopathology by examining current dimensional symptoms and DSM-IV emotional and behavioral disorders. Correlational analyses indicated that higher family conflict and lower cohesion were associated with higher internalizing and externalizing symptoms in offspring. Lower family cohesion was also associated with current offspring mood disorders. Moderation analyses indicated, first, that the link between lower family cohesion and internalizing symptoms was stronger for younger offspring compared to older offspring. Second, higher family conflict and current mood disorder were associated in younger males but not in older males or in females. Results remained the same after controlling for parental anxiety or substance use disorder comorbidity. Our study highlights the importance of accounting for family functioning when working with offspring at risk for BD, while also recognizing that the connections between family functioning and offspring outcomes are complex and differ based on offspring sex and developmental stage. PsycINFO Database Record (c) 2015 APA, all rights reserved.

Attention deficit hyperactivity disorder and disordered eating behaviors: links, risks, and challenges faced

Directory of Open Access Journals (Sweden)

Ptacek R

2016-03-01

Full Text Available Radek Ptacek,1,2 George B Stefano,1,3 Simon Weissenberger,1 Devang Akotia,1 Jiri Raboch,1 Hana Papezova,1 Lucie Domkarova,1 Tereza Stepankova,1 Michal Goetz4 1Department of Psychiatry, Charles University 1st Medical Faculty and General Teaching Hospital, Prague, Czech Republic; 2Department of Psychology, University of New York in Prague, Prague, Czech Republic; 3MitoGenetics Research Institute, MitoGenetics, LLC, Farmingdale, NY, USA; 4Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Attention deficit hyperactivity disorder (ADHD is a neurodevelopmental disorder that often persists in adulthood. It is defined by inattention and/or hyperactivity–impulsivity. ADHD is associated with many comorbidities, including eating disorders (EDs. In the last decade, studies have reported that ADHD is linked with binge EDs, bulimia nervosa, and anorexia nervosa. Many postulates have been proposed to explain the association: 1 impulsive behavior in ADHD patients leads to disordered eating behavior; 2 other psychologic comorbidities present in ADHD patients account for eating behavior; 3 poor eating habits and resulting nutritional deficiencies contribute to ADHD symptoms; and 4 other risk factors common to both ADHD and EDs contribute to the coincidence of both diseases. Additionally, sex differences become a significant issue in the discussion of EDs and ADHD because of the higher incidence of bulimia nervosa and anorexia nervosa in females and the ability of females to mask the symptoms of ADHD. Interestingly, both EDs and ADHD rely on a common neural substrate, namely, dopaminergic signaling. Dopaminergic signaling is critical for motor activity and emotion, the latter enabling the former into a combined motivated movement like eating. This linkage aids in explaining the many comorbidities associated with ADHD. The interconnection of ADHD and EDs is discussed from

Absence of sex differences in mental rotation performance in autism spectrum disorder.

Science.gov (United States)

Rohde, Melanie S; Georgescu, Alexandra L; Vogeley, Kai; Fimmers, Rolf; Falter-Wagner, Christine M

2017-08-01

Mental rotation is one of the most investigated cognitive functions showing consistent sex differences. The 'Extreme Male Brain' hypothesis attributes the cognitive profile of individuals with autism spectrum disorder to an extreme version of the male cognitive profile. Previous investigations focused almost exclusively on males with autism spectrum disorder with only limited implications for affected females. This study is the first testing a sample of 12 female adults with high-functioning autism spectrum disorder compared to 14 males with autism spectrum disorder, 12 typically developing females and 14 typically developing males employing a computerised version of the mental rotation test. Reaction time and accuracy served as dependent variables. Their linear relationship with degree of rotation allows separation of rotational aspects of the task, indicated by slopes of the psychometric function, and non-rotational aspects, indicated by intercepts of the psychometric function. While the typical and expected sex difference for rotational task aspects was corroborated in typically developing individuals, no comparable sex difference was found in autism spectrum disorder individuals. Autism spectrum disorder and typically developing individuals did not differ in mental rotation performance. This finding does not support the extreme male brain hypothesis of autism.

Understanding Factors Associated with Children's Motivation to Engage in Recess-Time Physical Activity

Science.gov (United States)

Efrat, Merav W.

2016-01-01

Physical activity is linked with health and academic benefits. While recess provides the greatest opportunity for children to accumulate physical activity, most children are not motivated to engage in sufficient amounts of physical activity during recess. Research demonstrates a strong relationship between self-efficacy and children's motivation…

Sex differences in neuropsychological performance and social functioning in schizophrenia and bipolar disorder.

Science.gov (United States)

Vaskinn, Anja; Sundet, Kjetil; Simonsen, Carmen; Hellvin, Tone; Melle, Ingrid; Andreassen, Ole A

2011-07-01

To investigate sex differences in neurocognition and social functioning in schizophrenia and bipolar disorder and the possible role of sex as a moderator of this relationship. Participants with schizophrenia (60 women/94 men), bipolar I disorder (55 women/51 men), and healthy controls (158 women/182 men) were assessed with an extensive neuropsychological test battery and a social functioning questionnaire. We found significant main effects of sex for neuropsychological tests (p neuropsychological tests (except attention and working memory). Both clinical groups performed below healthy controls for all neuropsychological tests (except attention). Post hoc comparisons of persons with schizophrenia and healthy controls yielded significant interaction effects (p neuropsychological tests (California Verbal Learning Test II [CVLT-II], Color-Word Interference, and Interference/Switching), with men with schizophrenia being disproportionally disadvantaged compared with their female counterparts. Regression analyses investigating sex as a moderator between neurocognition and social functioning showed that neurocognition predicted social functioning in schizophrenia, whereas sex predicted social functioning in healthy controls. Sex was not a moderator in any of the three groups. This study is the first to find neurocognitive sex differences for bipolar disorder and replicated previous findings for schizophrenia. The data did not support the hypothesis that sex is a moderator between neurocognition and social functioning. Clinical implications include the use of different cognitive remediation strategies based on sex. PsycINFO Database Record (c) 2011 APA, all rights reserved.

A Case of Hemophilia A Associated with Spontaneous Hemorrhagic Pleural Effusion and Intracranial Hem

Directory of Open Access Journals (Sweden)

Nuri Tutar

2014-03-01

Full Text Available Hemophilia A is a sex-linked recessive coagulation disorder almost exclusively occurring in male subjects and caused by a deficiency of factor VIII. It  is a rare disorder characterized by spontaneous hemorrhages. Spontaneous bleeding in the pleural space is very rare in hemophilia both in children and adults. Here in, we present the case of a 56-year-old hemophilia A patient with hemorrhagic pleural effusion and intracranial hematoma.

Sex Reversal and Comparative Data Undermine the W Chromosome and Support Z-linked DMRT1 as the Regulator of Gonadal Sex Differentiation in Birds.

Science.gov (United States)

Hirst, Claire E; Major, Andrew T; Ayers, Katie L; Brown, Rosie J; Mariette, Mylene; Sackton, Timothy B; Smith, Craig A

2017-09-01

The exact genetic mechanism regulating avian gonadal sex differentiation has not been completely resolved. The most likely scenario involves a dosage mechanism, whereby the Z-linked DMRT1 gene triggers testis development. However, the possibility still exists that the female-specific W chromosome may harbor an ovarian determining factor. In this study, we provide evidence that the universal gene regulating gonadal sex differentiation in birds is Z-linked DMRT1 and not a W-linked (ovarian) factor. Three candidate W-linked ovarian determinants are HINTW, female-expressed transcript 1 (FET1), and female-associated factor (FAF). To test the association of these genes with ovarian differentiation in the chicken, we examined their expression following experimentally induced female-to-male sex reversal using the aromatase inhibitor fadrozole (FAD). Administration of FAD on day 3 of embryogenesis induced a significant loss of aromatase enzyme activity in female gonads and masculinization. However, expression levels of HINTW, FAF, and FET1 were unaltered after experimental masculinization. Furthermore, comparative analysis showed that FAF and FET1 expression could not be detected in zebra finch gonads. Additionally, an antibody raised against the predicted HINTW protein failed to detect it endogenously. These data do not support a universal role for these genes or for the W sex chromosome in ovarian development in birds. We found that DMRT1 (but not the recently identified Z-linked HEMGN gene) is male upregulated in embryonic zebra finch and emu gonads, as in the chicken. As chicken, zebra finch, and emu exemplify the major evolutionary clades of birds, we propose that Z-linked DMRT1, and not the W sex chromosome, regulates gonadal sex differentiation in birds. Copyright © 2017 Endocrine Society.

Maternal condition but not corticosterone is linked to offspring sex ratio in a passerine bird.

Directory of Open Access Journals (Sweden)

Lindsay J Henderson

Full Text Available There is evidence of offspring sex ratio adjustment in a range of species, but the potential mechanisms remain largely unknown. Elevated maternal corticosterone (CORT is associated with factors that can favour brood sex ratio adjustment, such as reduced maternal condition, food availability and partner attractiveness. Therefore, the steroid hormone has been suggested to play a key role in sex ratio manipulation. However, despite correlative and causal evidence CORT is linked to sex ratio manipulation in some avian species, the timing of adjustment varies between studies. Consequently, whether CORT is consistently involved in sex-ratio adjustment, and how the hormone acts as a mechanism for this adjustment remains unclear. Here we measured maternal baseline CORT and body condition in free-living blue tits (Cyanistes caeruleus over three years and related these factors to brood sex ratio and nestling quality. In addition, a non-invasive technique was employed to experimentally elevate maternal CORT during egg laying, and its effects upon sex ratio and nestling quality were measured. We found that maternal CORT was not correlated with brood sex ratio, but mothers with elevated CORT fledged lighter offspring. Also, experimental elevation of maternal CORT did not influence brood sex ratio or nestling quality. In one year, mothers in superior body condition produced male biased broods, and maternal condition was positively correlated with both nestling mass and growth rate in all years. Unlike previous studies maternal condition was not correlated with maternal CORT. This study provides evidence that maternal condition is linked to brood sex ratio manipulation in blue tits. However, maternal baseline CORT may not be the mechanistic link between the maternal condition and sex ratio adjustment. Overall, this study serves to highlight the complexity of sex ratio adjustment in birds and the difficulties associated with identifying sex biasing mechanisms.

Sex Differences in Anxiety Disorders: Interactions between Fear, Stress, and Gonadal Hormones

Science.gov (United States)

Maeng, Lisa Y.; Milad, Mohammed R.

2015-01-01

Women are more vulnerable to stress- and fear-based disorders, such as anxiety and post-traumatic stress disorder. Despite the growing literature on this topic, the neural basis of these sex differences remains unclear, and the findings appear inconsistent. The neurobiological mechanisms of fear and stress in learning and memory processes have been extensively studied, and the crosstalk between these systems is beginning to explain the disproportionate incidence and differences in symptomatology and remission within these psychopathologies. In this review, we discuss the intersect between stress and fear mechanisms and their modulation by gonadal hormones and discuss the relevance of this information to sex differences in anxiety and fear-based disorders. Understanding these converging influences is imperative to the development of more effective, individualized treatments that take sex and hormones into account. PMID:25888456

Psychosocial well-being in Dutch adults with disorders of sex development

NARCIS (Netherlands)

de Neve-Enthoven, Nita G M; Callens, Nina; van Kuyk, Maaike; van Kuppenveld, Jet H.; Drop, Stenvert L S; Cohen-Kettenis, Peggy T.; Dessens, Arianne B.

2016-01-01

OBJECTIVE: Atypical sex development is associated with psychosocial vulnerability. We investigated psychosocial well-being in individuals with disorders of sex development (DSD) and hypothesized that psychosocial well-being was related to degree of genital atypicality at birth. METHODS: 120 male

Influence of gender constancy and social power on sex-linked modeling.

Science.gov (United States)

Bussey, K; Bandura, A

1984-12-01

Competing predictions derived from cognitive-developmental theory and social learning theory concerning sex-linked modeling were tested. In cognitive-developmental theory, gender constancy is considered a necessary prerequisite for the emulation of same-sex models, whereas according to social learning theory, sex-role development is promoted through a vast system of social influences with modeling serving as a major conveyor of sex role information. In accord with social learning theory, even children at a lower level of gender conception emulated same-sex models in preference to opposite-sex ones. Level of gender constancy was associated with higher emulation of both male and female models rather than operating as a selective determinant of modeling. This finding corroborates modeling as a basic mechanism in the sex-typing process. In a second experiment we explored the limits of same-sex modeling by pitting social power against the force of collective modeling of different patterns of behavior by male and female models. Social power over activities and rewarding resources produced cross-sex modeling in boys, but not in girls. This unexpected pattern of cross-sex modeling is explained by the differential sex-typing pressures that exist for boys and girls and socialization experiences that heighten the attractiveness of social power for boys.

Systematic review of recess interventions to increase physical activity.

Science.gov (United States)

Ickes, Melinda J; Erwin, Heather; Beighle, Aaron

2013-08-01

With the rapid increase in obesity rates among youth, efforts to increase physical activity (PA) have become a priority. School-based strategies for PA promotion must be cost-effective, unobtrusive, and linked to improved academic performance. Efforts to maximize recess PA are advocated because of both health and academic benefits. The purpose of this manuscript was to review recess interventions aimed to improve PA among youth, and make recommendations to develop related best practices. An extensive literature search was conducted to include all primary research articles evaluating any recess intervention with PA as an outcome. The included 13 interventions represented both settings within the U.S and internationally, among preschools and elementary/primary schools. A variety of strategies were used within the design and implementation of each of the interventions including: added equipment/materials, markings, zones, teacher involvement, active video games, activity of the week, and activity cards. Of the included studies, 95% demonstrated positive outcomes as a result of the recess intervention. A number of simple, low-cost strategies can be implemented to maximize the amount of recess time students are allotted. Long-term follow-up studies are warranted for each of the recess strategies identified to be effective.

Maternal Eating Disorders Influence Sex Ratio at Birth

OpenAIRE

Bulik, Cynthia M; Von Holle, Ann; Gendall, Kelly; Kveim Lie, Kari; Hoffman, Elizabeth; Mo, Xiaofei; Torgersen, Leila; Reichborn-Kjennerud, Ted

2008-01-01

We explored sex ratio at birth, defined as the proportion of male live births, in women with anorexia nervosa, bulimia nervosa, binge eating disorder, and eating disorders not otherwise specified-purging type (EDNOS-P) relative to a referent group in a large population based sample of 38,340 pregnant women in Norway. Poisson regressions were adjusted for mother’s age, pre-pregnancy BMI, lifetime smoking status, maternal education, income, marital status, gestational age, and parity. Lower pro...

A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.

Science.gov (United States)

Grover, S; Fishman, G A; Anderson, R J; Lindeman, M

2000-02-01

This study was carried out to evaluate the progression of visual function impairment in carriers of X-linked recessive retinitis pigmentosa. We also assessed the relationship between the retinal findings at presentation and the extent of deterioration. Observational, retrospective, case series. Twenty-seven carriers of X-linked recessive retinitis pigmentosa. Each carrier was clinically categorized into one of four grades (grades 0 through 3) depending on the presence or absence of a tapetal-like retinal reflex and the extent of peripheral pigmentary degeneration. A complete ophthalmologic examination was performed and data for visual acuity, visual field area, and electroretinographic measurements were collected on the most recent visit in both eyes. These were then compared with similar data obtained on their initial visits. A comparison of visual function was carried out between the initial visit and the most recent visit on each carrier. The visual acuity was measured with Snellen's acuity charts. The visual fields to targets V-4-e and II-4-e were planimeterized and used for the analysis. The electroretinographic (ERG) measures used were light-adapted single-flash b-wave amplitudes and 30-Hz red flicker for cone function, dark-adapted maximal b-wave amplitudes, and response to a low intensity blue-flash for rod function. None of the 11 carriers with a tapetal-like reflex only (grade 1) showed any significant change in visual acuity or fields as compared with 3 of 7 (43%) carriers with diffuse peripheral pigmentary findings (grade 3) who showed significant deterioration in visual acuity in at least one eye, and 6 of 7 (86%) who showed a significant decrease in visual field area with at least one target size in at least one eye. By comparison, only 1 of 10 carriers with a grade 1 fundus finding demonstrated a significant decrease in maximal dark-adapted ERG function as compared with 5 of 6 (83%) carriers with grade 3 in response to a single-flash stimulus and

Analysis of the factors linked to a diagnosis of attention deficit hyperactivity disorder in children.

Science.gov (United States)

Rivas-Juesas, C; de Dios, J G; Benac-Prefaci, M; Colomer-Revuelta, J

2017-09-01

Attention deficit hyperactivity disorder (ADHD) is a neuropsychiatric disorder originating from multiple factors. The aim of this study is to determine the percentage of patients with ADHD out of all patients referred to our clinic for assessment, and to explore the epidemiological and clinical factors linked to this diagnosis. retrospective analytical study of a sample of patients under 15 years old sent to the paediatric neurology clinic for suspected ADHD. DSM-IV criteria were used for diagnosis. We completed a binary logistic regression analysis to determine which risk factors were associated with the diagnosis. Of the 280 selected patients, 224 were male (male/female ratio 4:1); mean age (SD) was 8.4 (3.08) years. Almost half (49%) of the patients were referred by their schools and 64.9% were born in the second half of the year, but this tendency was more marked in girls than in boys. Assessment according to DSM-IV criteria resulted in diagnosis of 139 subjects (49.7%). The risk factors linked to diagnosis were male sex, parents with ADHD, associated sleep disorders, tics, and absence of neurodevelopmental delay. Only half of the children referred for suspected ADHD were diagnosed with that condition, and most were among the youngest in their classes, which suggests that suspected ADHD is overestimated. An exhaustive clinical interview investigating the family's psychological disorders and the patient's sleep disorders and tics is needed to improve the diagnostic process. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Gastrocnemius Recession Leads to Increased Ankle Motion and Improved Patient Satisfaction After 2 Years of Follow-Up

DEFF Research Database (Denmark)

Holtmann, Julia Alessandra; Südkamp, Norbert P; Schmal, Hagen

2017-01-01

The isolated gastrocnemius contracture present in neurologic healthy patients results in a significant limitation of ankle dorsiflexion causing pathologic gait patterns and a greater risk of further foot disorders. Gastrocnemius recession is an established procedure to increase ankle dorsiflexion....... However, little evidence is available of the use of gastrocnemius recession in these patients. Complication rates, recurrence of gastrocnemius contracture, and the prevalence of additional foot disorders needs further evaluation. A study group of 64 operated limbs undergoing gastrocnemius recession...... was evaluated to determine the prevalence of foot disorders, pre- and postoperative ankle dorsiflexion, and incidence of complications. A subgroup of 15 (23.4%) patients without additional operative procedures was examined regarding ankle dorsiflexion, strength (Janda method), sensitivity in the operated limb...

Popularity among Same-Sex and Cross-Sex Peers: A Process-Oriented Examination of Links to Aggressive Behaviors and Depressive Affect

Science.gov (United States)

Troop-Gordon, Wendy; Ranney, John D.

2014-01-01

Popularity has been linked to heightened aggression and fewer depressive symptoms. The current study extends this literature by examining the unique contributions of same-sex and cross-sex popularity to children's development, as well as potential mediating processes. Third- and 4th-graders (212 boys, 250 girls) provided data at 3 time points over…

Using Link Disconnection Entropy Disorder to Detect Fast Moving Nodes in MANETs.

Science.gov (United States)

Alvarez, Carlos F; Palafox, Luis E; Aguilar, Leocundo; Sanchez, Mauricio A; Martinez, Luis G

2016-01-01

Mobile ad-hoc networks (MANETs) are dynamic by nature; this dynamism comes from node mobility, traffic congestion, and other transmission conditions. Metrics to evaluate the effects of those conditions shine a light on node's behavior in an ad-hoc network, helping to identify the node or nodes with better conditions of connection. In this paper, we propose a relative index to evaluate a single node reliability, based on the link disconnection entropy disorder using neighboring nodes as reference. Link disconnection entropy disorder is best used to identify fast moving nodes or nodes with unstable communications, this without the need of specialized sensors such as GPS. Several scenarios were studied to verify the index, measuring the effects of Speed and traffic density on the link disconnection entropy disorder. Packet delivery ratio is associated to the metric detecting a strong relationship, enabling the use of the link disconnection entropy disorder to evaluate the stability of a node to communicate with other nodes. To expand the utilization of the link entropy disorder, we identified nodes with higher speeds in network simulations just by using the link entropy disorder.

The Great Recession, unemployment and suicide.

Science.gov (United States)

Norström, Thor; Grönqvist, Hans

2015-02-01

How have suicide rates responded to the marked increase in unemployment spurred by the Great Recession? Our paper puts this issue into a wider perspective by assessing (1) whether the unemployment-suicide link is modified by the degree of unemployment protection, and (2) whether the effect on suicide of the present crisis differs from the effects of previous economic downturns. We analysed the unemployment-suicide link using time-series data for 30 countries spanning the period 1960-2012. Separate fixed-effects models were estimated for each of five welfare state regimes with different levels of unemployment protection (Eastern, Southern, Anglo-Saxon, Bismarckian and Scandinavian). We included an interaction term to capture the possible excess effect of unemployment during the Great Recession. The largest unemployment increases occurred in the welfare state regimes with the least generous unemployment protection. The unemployment effect on male suicides was statistically significant in all welfare regimes, except the Scandinavian one. The effect on female suicides was significant only in the eastern European country group. There was a significant gradient in the effects, being stronger the less generous the unemployment protection. The interaction term capturing the possible excess effect of unemployment during the financial crisis was not significant. Our findings suggest that the more generous the unemployment protection the weaker the detrimental impact on suicide of the increasing unemployment during the Great Recession. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

How does sex matter? Behavior, stress and animal models of neurobehavioral disorders.

Science.gov (United States)

Palanza, Paola; Parmigiani, Stefano

2017-05-01

Many aspects of brain functioning exhibit important sex differences that affect behavior, mental health and mental disorders. However, most translational neuroscience research related to animal models of neurobehavioral disorders are carried out in male animals only. Based on published data from our laboratory on the House mouse, we discuss the following issues: (1) sex differences in social behavior of wild-derived mice; (2) artificial selection of laboratory strains and its consequences on social and reproductive competition; (3) sex-dependent effects of common experimental procedures; (4) differential effects of developmental events: the case of endocrine disruption; (5) implications for female models of stress and neurobehavioral disorders. Altogether, this review of data outline the marked differences of male and female responses to different social challenges and evinces the current lack of a relevant female mouse model of social stress. Whilst animal modelling is an important approach towards understanding mechanisms of neurobehavioral disorders, it is evident that data obtained in males may be irrelevant for inferring psychopathology and efficacy of pharmacological treatments for females. Copyright © 2017 Elsevier Ltd. All rights reserved.

3. Pattern of Inheritance of Autosome and Sex. Chromosome Linked ...

Indian Academy of Sciences (India)

Home; Journals; Resonance – Journal of Science Education; Volume 4; Issue 10. Teaching and Learning Genetics with Drosophila – Pattern of Inheritance of Autosome and Sex Chro-mosome Linked Genes/Characters. H A Ranganath M T Tanuja. Classroom Volume 4 Issue 10 October 1999 pp 78-87 ...

Ecohealth Approach to Flood Recession Farming in Okavango Delta ...

International Development Research Centre (IDRC) Digital Library (Canada)

In the Okavango Delta, Botswana, flood-recession farming (molapu) is a lucrative but ... Moreover, some practices involved in molapu farming may pose a threat to the ... Linking research to urban planning at the ICLEI World Congress 2018.

Genetics Home Reference: autosomal recessive congenital stationary night blindness

Science.gov (United States)

... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

Quality of life in 70 women with disorders of sex development

DEFF Research Database (Denmark)

Johannsen, Trine H.; Ripa, Caroline P.L.; Mortensen, Erik L.

2006-01-01

OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed ...... and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.......OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed...... with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom...

Norrie's disease in an Asian family.

OpenAIRE

Harendra de Silva, D G; de Silva, D B

1988-01-01

Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.

Sex, stress, and mood disorders: at the intersection of adrenal and gonadal hormones.

Science.gov (United States)

Fernández-Guasti, A; Fiedler, J L; Herrera, L; Handa, R J

2012-07-01

The risk for neuropsychiatric illnesses has a strong sex bias, and for major depressive disorder (MDD), females show a more than 2-fold greater risk compared to males. Such mood disorders are commonly associated with a dysregulation of the hypothalamo-pituitary-adrenal (HPA) axis. Thus, sex differences in the incidence of MDD may be related with the levels of gonadal steroid hormone in adulthood or during early development as well as with the sex differences in HPA axis function. In rodents, organizational and activational effects of gonadal steroid hormones have been described for the regulation of HPA axis function and, if consistent with humans, this may underlie the increased risk of mood disorders in women. Other developmental factors, such as prenatal stress and prenatal overexposure to glucocorticoids can also impact behaviors and neuroendocrine responses to stress in adulthood and these effects are also reported to occur with sex differences. Similarly, in humans, the clinical benefits of antidepressants are associated with the normalization of the dysregulated HPA axis, and genetic polymorphisms have been found in some genes involved in controlling the stress response. This review examines some potential factors contributing to the sex difference in the risk of affective disorders with a focus on adrenal and gonadal hormones as potential modulators. Genetic and environmental factors that contribute to individual risk for affective disorders are also described. Ultimately, future treatment strategies for depression should consider all of these biological elements in their design. © Georg Thieme Verlag KG Stuttgart · New York.

Identifying new sex-linked genes through BAC sequencing in the dioecious plant Silene latifolia

Czech Academy of Sciences Publication Activity Database

Blavet, Nicolas; Blavet, Hana; Muyle, A.; Käfer, J.; Cegan, R.; Deschamps, C.; Zemp, N.; Mousset, S.; Aubourg, S.; Bergero, R.; Charlesworth, D.; Hobza, Roman; Widmer, A.; Marais, G.A.B.

2015-01-01

Roč. 16, JUL 25 (2015), s. 546 ISSN 1471-2164 R&D Projects: GA ČR GAP501/12/2220 Institutional support: RVO:61389030 Keywords : Sex chromosomes * Sex-linked genes * Plant Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.867, year: 2015

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

Directory of Open Access Journals (Sweden)

Margret L Casal

Full Text Available Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del, the 157th base (cytosine in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin protein of 248 amino acids instead of the wild-type length of 404. Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. More importantly, the development of this canine model of autosomal recessive congenital ichthyosis will provide insight into the development of new treatments across species.

Physical activity levels of normal-weight and overweight girls and boys during primary school recess.

Science.gov (United States)

Stratton, Gareth; Ridgers, Nicola D; Fairclough, Stuart J; Richardson, David J

2007-06-01

This study aimed to compare moderate-to-vigorous physical activity (MVPA) and vigorous physical activity (VPA) in normal-weight and overweight boys and girls during school recess. Four hundred twenty children, age 6 to 10 years, were randomly selected from 25 schools in England. Three hundred seventy-seven children completed the study. BMI was calculated from height and weight measurements, and heart rate reserve thresholds of 50% and 75% reflected children's engagement in MVPA and VPA, respectively. There was a significant main effect for sex and a significant interaction between BMI category and sex for the percent of recess time spent in MVPA and VPA. Normal-weight girls were the least active group, compared with overweight boys and girls who were equally active. Fifty-one boys and 24 girls of normal weight achieved the 40% threshold; of these, 30 boys and 10 girls exceeded 50% of recess time in MVPA. Eighteen overweight boys and 22 overweight girls exceeded the 40% threshold, whereas 8 boys and 8 girls exceeded the 50% threshold. Overweight boys were significantly less active than their normal-weight male counterparts; this difference did not hold true for girls. Even though nearly double the number of normal-weight children achieved the 40% of MVPA during recess compared with overweight children, physical activity promotion in school playgrounds needs to be targeted not only at overweight but at other health parameters, as 40 overweight children met the 40% MVPA target proposed for recess.

Psychosocial and psychosexual aspects of disorders of sex development

NARCIS (Netherlands)

Cohen-Kettenis, P.T.

2010-01-01

Psychosocial aspects of the treatment of disorders of sex development (DSDs) concern gender assignment, information management and communication, timing of medical interventions, consequences of surgery, and sexuality. Although outcome is often satisfactory, a variety of medical and psychosocial

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

Energy Technology Data Exchange (ETDEWEB)

Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

1995-12-04

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

The Great Recession: a comparison of recession magnitudes in Europe, USA and Japan

OpenAIRE

Mazurek, Jiří

2013-01-01

In this article recession magnitudes in Europe, the USA and Japan during the Great Recession are compared. The strongest recessions (of severe category) occurred in Latvia, Lithuania and Estonia, while recessions in Japan and the USA were significantly weaker. Even the strongest recession (in Latvia) was found smaller in its magnitude than the Great Depression 1929-1933 in the USA. Hence, comparisons of the Great Recession to the Great Depression in the literature are somewhat exaggerated.

Forecasting US Recessions

DEFF Research Database (Denmark)

Christiansen, Charlotte; Eriksen, Jonas Nygaard; Møller, Stig Vinther

2014-01-01

We study the role of sentiment variables as predictors for US recessions. We combine sentiment variables with either classical recession predictors or common factors based on a large panel of macroeconomic and financial variables. Sentiment variables hold vast predictive power for US recessions...

Economic recession and fertility in the developed world.

Science.gov (United States)

Sobotka, Tomáš; Skirbekk, Vegard; Philipov, Dimiter

2011-01-01

This article reviews research on the effects of economic recessions on fertility in the developed world. We study how economic downturns, as measured by various indicators, especially by declining GDP levels, falling consumer confidence, and rising unemployment, were found to affect fertility. We also discuss particular mechanisms through which the recession may have influenced fertility behavior, including the effects of economic uncertainty, falling income, changes in the housing market, and rising enrollment in higher education, and also factors that influence fertility indirectly such as declining marriage rates. Most studies find that fertility tends to be pro-cyclical and often rises and declines with the ups and downs of the business cycle. Usually, these aggregate effects are relatively small (typically, a few percentage points) and of short durations; in addition they often influence especially the timing of childbearing and in most cases do not leave an imprint on cohort fertility levels. Therefore, major long-term fertility shifts often continue seemingly uninterrupted during the recession—including the fertility declines before and during the Great Depression of the 1930s and before and during the oil shock crises of the 1970s. Changes in the opportunity costs of childbearing and fertility behavior during economic downturn vary by sex, age, social status, and number of children; childless young adults are usually most affected. Furthermore, various policies and institutions may modify or even reverse the relationship between recessions and fertility. The first evidence pertaining to the recent recession falls in line with these findings. In most countries, the recession has brought a decline in the number of births and fertility rates, often marking a sharp halt to the previous decade of rising fertility rates.

Two males with SRY-positive 46,XX testicular disorder of sex development.

Science.gov (United States)

Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

2013-02-01

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

Molecular Method for Sex Identification of Half-Smooth Tongue Sole (Cynoglossus semilaevis Using a Novel Sex-Linked Microsatellite Marker

Directory of Open Access Journals (Sweden)

Xiaolin Liao

2014-07-01

Full Text Available Half-smooth tongue sole (Cynoglossus semilaevis is one of the most important flatfish species for aquaculture in China. To produce a monosex population, we attempted to develop a marker-assisted sex control technique in this sexually size dimorphic fish. In this study, we identified a co-dominant sex-linked marker (i.e., CyseSLM by screening genomic microsatellites and further developed a novel molecular method for sex identification in the tongue sole. CyseSLM has a sequence similarity of 73%–75% with stickleback, medaka, Fugu and Tetraodon. At this locus, two alleles (i.e., A244 and A234 were amplified from 119 tongue sole individuals with primer pairs CyseSLM-F1 and CyseSLM-R. Allele A244 was present in all individuals, while allele A234 (female-associated allele, FAA was mostly present in females with exceptions in four male individuals. Compared with the sequence of A244, A234 has a 10-bp deletion and 28 SNPs. A specific primer (CyseSLM-F2 was then designed based on the A234 sequence, which amplified a 204 bp fragment in all females and four males with primer CyseSLM-R. A time-efficient multiplex PCR program was developed using primers CyseSLM-F2, CyseSLM-R and the newly designed primer CyseSLM-F3. The multiplex PCR products with co-dominant pattern could be detected by agarose gel electrophoresis, which accurately identified the genetic sex of the tongue sole. Therefore, we have developed a rapid and reliable method for sex identification in tongue sole with a newly identified sex-linked microsatellite marker.

Movement disorders in hereditary ataxias.

Science.gov (United States)

Garcia Ruiz, Pedro J; Mayo, David; Hernandez, Jaime; Cantarero, Susana; Ayuso, Carmen

2002-10-15

Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in patients referred for HA over the last 3 years. Only those patients with a confirmed family history of ataxia were included. We studied 84 cases of HA, including 46 cases of recessive and 38 cases of dominant HA. Thirty out of 46 cases of recessive HA could be classified as: Friedreich ataxia (FA), 29 cases; vitamin E deficiency, 1 case. Twenty-three out of 38 cases of dominant HA could be classified as: SCA 2, 4 cases; SCA 3, 8 cases; SCA 6, 4 cases; SCA 7, 6 cases and SCA 8, 1 case. We observed movement disorders in 20/38 (52%) patients with dominant HA and 25/46 (54%) cases with recessive HA, including 16 patients (16/29) with FA. In general, postural tremor was the most frequent observed movement disorder (27 cases), followed by dystonia (22 cases). Five patients had akinetic rigid syndrome, and in 13 cases, several movement disorders coexisted. Movement disorders are frequent findings in HA, not only in dominant HA but also in recessive HA. Copyright 2002 Elsevier Science B.V.

Sex addiction and gambling disorder: similarities and differences.

Science.gov (United States)

Farré, J M; Fernández-Aranda, F; Granero, R; Aragay, N; Mallorquí-Bague, N; Ferrer, V; More, A; Bouman, W P; Arcelus, J; Savvidou, L G; Penelo, E; Aymamí, M N; Gómez-Peña, M; Gunnard, K; Romaguera, A; Menchón, J M; Vallès, V; Jiménez-Murcia, S

2015-01-01

Recently, the DSM-5 has developed a new diagnostic category named "Substance-related and Addictive Disorders". This category includes gambling disorder (GD) as the sole behavioral addiction, but does not include sex addiction (SA). The aim of this study is to investigate whether SA should be classified more closely to other behavioral addictions, via a comparison of the personality characteristics and comorbid psychopathology of individuals with SA with those of individuals with GD, which comes under the category of addiction and related disorders. The sample included 59 patients diagnosed with SA, who were compared to 2190 individuals diagnosed with GD and to 93 healthy controls. Assessment measures included the Diagnostic Questionnaire for Pathological Gambling, the South Oaks Gambling Screen, the Symptom CheckList-90 Items-Revised and the Temperament and Character Inventory-Revised. No statistically significant differences were found between the two clinical groups, except for socio-economic status. Although statistically significant differences were found between both clinical groups and controls for all scales on the SCL-90, no differences were found between the two clinical groups. The results were different for personality characteristics: logistic regression models showed that sex addictive behavior was predicted by a higher education level and by lower scores for TCI-R novelty-seeking, harm avoidance, persistence and self-transcendence. Being employed and lower scores in cooperativeness also tended to predict the presence of sex addiction. While SA and GD share some psychopathological and personality traits that are not present in healthy controls, there are also some diagnostic-specific characteristics that differentiate between the two clinical groups. These findings may help to increase our knowledge of phenotypes existing in behavioral addictions. Copyright © 2014 Elsevier Inc. All rights reserved.

Mental health disorders among homeless, substance-dependent men who have sex with men.

Science.gov (United States)

Fletcher, Jesse B; Reback, Cathy J

2017-07-01

Homelessness is associated with increased prevalence of mental health disorders, substance use disorders and mental health/substance use disorder comorbidity in the United States of America. Gay, bisexual and other men who have sex with men (MSM) living in the United States are at increased risk for homelessness, and have also evidenced elevated mental health and substance use disorder prevalence relative to their non-MSM male counterparts. Secondary analysis of data from a randomised controlled trial estimating the diagnostic prevalence of substance use/mental health disorder comorbidity among a sample of homeless, substance-dependent MSM (DSM-IV verified; n = 131). The most prevalent substance use/mental health disorder comorbidities were stimulant dependence comorbid with at least one depressive disorder (28%), alcohol dependence comorbid with at least one depressive disorder (26%) and stimulant dependence comorbid with antisocial personality disorder (25%). Diagnostic depression and antisocial personality disorder both demonstrated high rates of prevalence among homeless, substance-dependent (particularly stimulant and alcohol dependent) MSM. [Fletcher JB, Reback CJ. Mental health disorders among homeless, substance-dependent men who have sex with men. Drug Alcohol Rev 2016;36:555-559]. © 2016 Australasian Professional Society on Alcohol and other Drugs.

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Science.gov (United States)

Ravia, Y; Braier-Goldstein, O; Bat-Miriam, K M; Erlich, S; Barkai, G; Goldman, B

1993-08-01

X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.

The sex ratio of siblings of individuals with a history of developmental language disorder

DEFF Research Database (Denmark)

Mouridsen, Svend Erik; Hauschild, Karen-Marie

2010-01-01

There is a well documented predominance of males diagnosed with neurodevelopmental disorders. The influence of sex steroids upon brain development has been suggested to mediate sex differences in developmental psychopathology, and has been epitomized in the 'extreme male brain theory......'. The objective of this study was to extend previous studies dealing with the extreme male brain theory and to study the sex ratio (proportion of males) in the siblings of 469 individuals with a developmental language disorder (DLD) who were consecutively assessed in the same clinic during a period of 10 years....... Among their 908 live-born siblings, 503 were males and 405 females. This yields a sex ratio of 0.554, which is significantly higher than the Danish live birth sex ratio of 0.514 over the same period (P = 0.02). Our findings are consistent with the hypothesis that male sex hormones may be implicated...

Corrective surgery for canine patellar luxation in 75 cases (107 limbs): landmark for block recession

OpenAIRE

Mitsuhiro Isaka; Masahiko Befu; Nami Matsubara; Mayuko Ishikawa; Yurie Arase; Toshiyuki Tsuyama; Akiko Doi; Shinichi Namba

2014-01-01

Canine medial patellar luxation (MPL) is a very common orthopedic disease in small animals. Because the pathophysiology of this disease involves various pathways, the surgical techniques and results vary according to the veterinarian. Further, the landmark for block recession is not completely clear. We retrospectively evaluated 75 dogs (107 limbs) with MPL in whom our landmark for block recession was used from July 2008 to May 2013. Information regarding the breed, age, sex, body weight, bod...

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Directory of Open Access Journals (Sweden)

Dirk J Lefeber

2011-12-01

Full Text Available Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years with a predominant presentation of dilated cardiomyopathy (DCM. Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG. Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.

Sex differences in the genetic and environmental influences on childhood conduct disorder and adult antisocial behavior.

Science.gov (United States)

Meier, Madeline H; Slutske, Wendy S; Heath, Andrew C; Martin, Nicholas G

2011-05-01

Sex differences in the genetic and environmental influences on childhood conduct disorder and adult antisocial behavior were examined in a large community sample of 6,383 adult male, female, and opposite-sex twins. Retrospective reports of childhood conduct disorder (prior to 18 years of age) were obtained when participants were approximately 30 years old, and lifetime reports of adult antisocial behavior (antisocial behavior after 17 years of age) were obtained 8 years later. Results revealed that either the genetic or the shared environmental factors influencing childhood conduct disorder differed for males and females (i.e., a qualitative sex difference), but by adulthood, these sex-specific influences on antisocial behavior were no longer apparent. Further, genetic and environmental influences accounted for proportionally the same amount of variance in antisocial behavior for males and females in childhood and adulthood (i.e., there were no quantitative sex differences). Additionally, the stability of antisocial behavior from childhood to adulthood was slightly greater for males than females. Though familial factors accounted for more of the stability of antisocial behavior for males than females, genetic factors accounted for the majority of the covariation between childhood conduct disorder and adult antisocial behavior for both sexes. The genetic influences on adult antisocial behavior overlapped completely with the genetic influences on childhood conduct disorder for both males and females. Implications for future twin and molecular genetic studies are discussed.

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Science.gov (United States)

Drury, Suzanne; Mason, Sarah; McKay, Fiona; Lo, Kitty; Boustred, Christopher; Jenkins, Lucy; Chitty, Lyn S

2016-01-01

Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

Directory of Open Access Journals (Sweden)

Saleha Shamim

2017-05-01

Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

Fully automated pipeline for detection of sex linked genes using RNA-Seq data.

Science.gov (United States)

Michalovova, Monika; Kubat, Zdenek; Hobza, Roman; Vyskot, Boris; Kejnovsky, Eduard

2015-03-11

Sex chromosomes present a genomic region which to some extent, differs between the genders of a single species. Reliable high-throughput methods for detection of sex chromosomes specific markers are needed, especially in species where genome information is limited. Next generation sequencing (NGS) opens the door for identification of unique sequences or searching for nucleotide polymorphisms between datasets. A combination of classical genetic segregation analysis along with RNA-Seq data can present an ideal tool to map and identify sex chromosome-specific expressed markers. To address this challenge, we established genetic cross of dioecious plant Rumex acetosa and generated RNA-Seq data from both parental generation and male and female offspring. We present a pipeline for detection of sex linked genes based on nucleotide polymorphism analysis. In our approach, tracking of nucleotide polymorphisms is carried out using a cross of preferably distant populations. For this reason, only 4 datasets are needed - reads from high-throughput sequencing platforms for parent generation (mother and father) and F1 generation (male and female progeny). Our pipeline uses custom scripts together with external assembly, mapping and variant calling software. Given the resource-intensive nature of the computation, servers with high capacity are a requirement. Therefore, in order to keep this pipeline easily accessible and reproducible, we implemented it in Galaxy - an open, web-based platform for data-intensive biomedical research. Our tools are present in the Galaxy Tool Shed, from which they can be installed to any local Galaxy instance. As an output of the pipeline, user gets a FASTA file with candidate transcriptionally active sex-linked genes, sorted by their relevance. At the same time, a BAM file with identified genes and alignment of reads is also provided. Thus, polymorphisms following segregation pattern can be easily visualized, which significantly enhances primer design

The Great Recession and the risk for child maltreatment.

Science.gov (United States)

Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane

2013-10-01

This study draws on the Fragile Families and Child Wellbeing Study (N=2,032), a birth cohort study of families with children from 20 U.S. cities. Interviews occurred between August 2007, and February 2010, when the children were approximately 9 years old. Macro-economic indicators of the Great Recession such as the Consumer Sentiment Index and unemployment and home foreclosure rates were matched to the data to estimate the links between different measures of the Great Recession and high frequency maternal spanking. We find that the large decline in consumer confidence during the Great Recession, as measured by the Consumer Sentiment Index, was associated with worse parenting behavior. In particular, lower levels of consumer confidence were associated with increased levels of high frequency spanking, a parenting behavior that is associated with greater likelihood of being contacted by child protective services. Copyright © 2013 Elsevier Ltd. All rights reserved.

Orexin: a Missing Link Between Sleep Disorders and Heart Failure?

Science.gov (United States)

Pan, Stephen; Cabral, Carolina S; Ashley, Euan A; Perez, Marco V

2017-04-01

Sleep disorders represent a significant comorbidity in the heart failure population, and there is mounting evidence that treatment of sleep disorders such as obstructive sleep apnea can significantly improve cardiac function. However, the link between these two disorders is still not entirely clear. Recently, a novel neurohormonal pathway has been elucidated involving signaling molecules now collectively known as the orexins, which have been implicated in regulating autonomic function during sleep/wake cycles. Further evidence has mounted that orexin signaling is deeply perturbed in the setting of sleep disorders, and furthermore that abnormal orexin signaling may be implicated in the pathology of heart failure. The orexin signaling pathway represents an enticing novel target for both the treatment of sleep disorders as well as heart failure, and may represent one facet of the "missing link" between these two prevalent and often comorbid diseases.

Consanguinity and genetic disorders: Profile from Jordan

International Nuclear Information System (INIS)

Hamamy, Hanan A.; Ajlouni, Kamel M.; Masri, Amira T.; Al-Hadidy, Azmy M.

2007-01-01

With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. Etiological categories and consanguinity rates were studied among 623 families with genetic syndromes, congenital anomalies or mental retardation, or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the period August 2002 to August 2006. Comparisons were made for first cousin marriage rates in the study group and that for the general population. First cousin marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal recessive conditions (group 1), dominant, X-linked and chromosomal conditions (group 2) and sporadic undiagnosed conditions (group 3) respectively. The differences in the rates of the first cousin matings were highly significant when comparing known figures in the general population with group 1 and 3, but not significant with group 2. Two messages to the public and health care personnel regarding consanguinity can be derived from this study. The first message is that among genetic disorders, only autosomal recessive disorders are strongly associated with consanguinity. The second message is that approximately 30% of sporadic undiagnosed cases of mental retardation, congenital anomalies and dimorphism may have an autosomal recessive etiology with risks of recurrence in future pregnancies. (author)

Attitudes towards "disorders of sex development" nomenclature among affected individuals.

Science.gov (United States)

Johnson, Emilie K; Rosoklija, Ilina; Finlayson, Courtney; Chen, Diane; Yerkes, Elizabeth B; Madonna, Mary Beth; Holl, Jane L; Baratz, Arlene B; Davis, Georgiann; Cheng, Earl Y

2017-12-01

Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms. A web-based survey was developed in collaboration with the AIS-DSDSG (Androgen Insensitivity Syndrome-DSD Support Group) leadership. AIS-DSDSG members (caregivers and affected individuals) were surveyed about attitudes towards DSD, potential impact on healthcare utilization, and alternate terms. A qualitative analysis of reasons for using/avoiding specific terms was performed. Surveys were completed by 202 out of 580 (35%) AIS-DSDSG members (61% affected, 39% caregivers; 16% non-gender binary; age range of affected individuals 0-86 years). Only 24% use disorder of sex development to describe themselves/their child. A majority (69%) had a negative emotional experience because of clinical use of nomenclature; 81% changed their care because of it. Preferred and non-preferred terms for clinical care and research are illustrated in the figure. Preferred diagnostic terms were intersex, variation in sex development, and difference of sex development (55%, 52%, and 50% liked/strongly liked, respectively). Disorder of sex development was not preferred (17% liked/strongly liked). About one-third reported that they would not attend a clinic named the Disorder of Sex Development Clinic. Overall, 81% provided qualitative comments; flexible terminology use was a key theme. These study findings are consistent with previous

Gender identity in disorders of sex development: review article.

Science.gov (United States)

Yang, Jennifer H; Baskin, Laurence S; DiSandro, Michael

2010-01-01

Many concerns have been raised regarding the treatment and long-term outcome of infants born with complex genital anomalies. Debate among clinicians, psychologists, ethicists, and patient advocate groups regarding the optimal management of these individuals is ongoing. Although determining the most appropriate gender is a difficult task, this review will help clarify some of the issues at hand. A literature review which addresses the challenges of advising families about gender identity in infants and children with disorders of sex development. The evidence for endocrine effects on neurobiological development with regard to sexual behavior is compelling, although the existing outcome studies are largely anecdotal and somewhat contradictory. Gender assignment in infants born with a disorder of sex development remains only one of the many difficult decisions faced by both the treatment team and the family. Improved long-term follow-up of these patients will provide much needed feedback on previous and contemporary management. 2010 Elsevier Inc. All rights reserved.

Sibling sex ratio of individuals diagnosed with autism spectrum disorder as children

DEFF Research Database (Denmark)

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2010-01-01

AIM: To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children. METHOD: In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals...... the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands. INTERPRETATION: Our findings suggest a potential indirect confirmation of the androgen theory of autism....

Associations between Antisocial Personality Disorder and Sex on Discounting Rates.

Science.gov (United States)

Andrade, Leonardo F; Riven, Levi; Petry, Nancy M

2014-12-01

Numerous studies show that individuals with substance use and gambling problems discount delayed and probabilistic outcomes at different rates than controls. Few studies, however, investigated the association of discounting with antisocial personality disorders (ASPD), and none evaluated whether sex impacts these relationships. Because females with ASPD exhibit different patterns of antisocial behavior than their male counterparts, they may also differ in their decision-making tendencies. This study examined the effects of ASPD and sex on discounting in pathological gamblers. Results revealed effects of ASPD, and an interaction between ASPD and sex, on probability discounting rates. None of these variables, however, were related to delay discounting. Females with ASPD highly preferred probabilistic outcomes, suggesting that female gamblers with ASPD are particularly impulsive when it comes to probabilistic rewards. Greater understanding of sex differences in ASPD might help guide the selection of more effective sex-specific prevention and treatment programs.

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Science.gov (United States)

Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

1995-01-01

Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

Adversity and sex differences in social and emotional sensitivity in children; a possible mechanism for sex differences in psychiatric disorders

OpenAIRE

Jonathan Hill; Helen Sharp; Lynne Murray

2010-01-01

Females are superior to males on a range of tasks indexing social sensitivity, the capacity to infer others' mental states and respond with appropriate behaviours and emotions(1-3). There are also sex differences in psychiatric disorders in children and adolescents. Boys have higher rates of psychiatric disorders before puberty, but disorders increase markedly in girls after puberty (4). The causes of the commonest forms of disorder, antisocial behaviour problems in boys, and depression ...

Psychotic disorder and its characteristics in sex chromosome aneuploidies

Directory of Open Access Journals (Sweden)

Annapia Verri

2009-09-01

Full Text Available Sex chromosome anomalies have been associated with psychoses. We report a patient with XYY chromosome anomaly who developed a paranoid psychosis. The second case deal with a 51-year-old woman affected by Turner Syndrome and Psychotic Disorder, with a prevalent somatic and sexual focus.

Risk Factors for Eating Disorder Psychopathology within the Treatment Seeking Transgender Population: The Role of Cross-Sex Hormone Treatment.

Science.gov (United States)

Jones, Bethany Alice; Haycraft, Emma; Bouman, Walter Pierre; Brewin, Nicola; Claes, Laurence; Arcelus, Jon

2018-03-01

Many transgender people experience high levels of body dissatisfaction, which is one of the numerous factors known to increase vulnerability to eating disorder symptoms in the cisgender (non-trans) population. Cross-sex hormones can alleviate body dissatisfaction so might also alleviate eating disorder symptoms. This study aimed to explore risk factors for eating disorder symptoms in transgender people and the role of cross-sex hormones. Individuals assessed at a national transgender health service were invited to participate (N = 563). Transgender people not on cross-sex hormones reported higher levels of eating disorder psychopathology than people who were. High body dissatisfaction, perfectionism, anxiety symptoms, and low self-esteem were risk factors for eating psychopathology, but, after controlling for these, significant differences in eating psychopathology between people who were and were not on cross-sex hormones disappeared. Cross-sex hormones may alleviate eating disorder psychopathology. Given the high prevalence of transgender identities, clinicians at eating disorder services should assess for gender identity issues. Copyright © 2018 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2018 John Wiley & Sons, Ltd and Eating Disorders Association.

STATISTICAL STUDY ON THE PREVALENCE OF GINGIVAL RECESSION IN YOUNG ADULTS

Directory of Open Access Journals (Sweden)

Oana POTÂRNICHIE

2013-07-01

Full Text Available Gingival recession represents a serious problem, for both patient and physician, especially when exposure of the radicular surface is related to the deterioration of the aesthetic aspect and to a more pronounced dental hyper‐ sensitivity. Scope of the study: to determine the preva‐ lence and severity of recessions in young adults, correlated with the local dental, as well as socio‐economic and cultu‐ ral conditions. Materials and method: A number of 85 persons, having addressed the Department of Perio‐ dontology, Faculty of Dental Medicine of Iasi, between February‐May 2011, were examined. The following para‐ meters were recorded: sex, education level, total number of gingival recessions at the level of the oral cavity, type of brush employed, frequency of dental brushing, amount of attached gingiva, existence of labial phrenum, type of occlusion, presence of certain complications induced by the manifestation of recessions, such as hypersensitivity. Results and discussion: Analysis and correlation of data showed that the most important role in the occurrence of recessions was played by the local factors, which intensi‐ fied the action of the determining element, the bacterial plaque. Thus, the nature of periodontal recessions is of inflammatory type, those with traumatic causes being sta‐ tistically non‐significant. The type of periodontium influ‐ enced the development of recessions, so that, for a delicate periodontium, 10.4 recessions/patient have been discove‐ red, while, in a thick periodontium, only 7 recessions/ patient. In cases of phrenectomies with insertion in the vicinity of the gingival margin, recessions of various sizes have been always present. In cases of dental occlusion, the obtained data suggest that the occurrence of recessions is not considerably influenced by the type of occlusion, the values being quite close. As to their sizes, most of the reces‐ sions were situated at a level of 2‐3 mm, a

Linking Temperamental Shyness and Social Anxiety in Childhood and Adolescence: Moderating Influences of Sex and Age.

Science.gov (United States)

Tsui, Tiffany Y L; Lahat, Ayelet; Schmidt, Louis A

2017-10-01

Although childhood shyness has been linked to social anxiety problems, the factors playing a role in this association have gone largely unexplored. Here we examined the potential moderating roles of sex and age on this relation in a sample of 119 (75 girls) children (10-12 years) and adolescents (14-16 years). As predicted, shyness was positively associated with social anxiety symptoms. Sex, but not age, served as a moderating factor in linking shyness and social anxiety. Specifically, shyness was more strongly associated with social anxiety symptoms among girls than boys. These results suggest the importance of considering sex differences when examining the relation between shyness and social anxiety in childhood and adolescence.

Histrionic personality disorder and antisocial personality disorder: sex-differentiated manifestations of psychopathy?

Science.gov (United States)

Cale, Ellison M; Lilienfeld, Scott O

2002-02-01

Little is known about the etiology of histrionic personality disorder (HPD) or its relation to other personality disorders. In this study, we examined whether HPD is etiologically related to psychopathy and more specifically whether HPD and antisocial personality disorder (ASPD) are sex-typed alternative manifestations of psychopathy. In addition, based on Newman's (1987) response modulation hypothesis of psychopathy, we examined the associations between psychopathic, HPD, and ASPD features and performance on laboratory measures of passive avoidance errors and interference effects. Seventy-five live theater actors completed self-report questionnaires and two laboratory measures of response modulation, and peers completed questionnaires concerning the participants' personality disorder features. The results provided weak and inconsistent support for the hypotheses that HPD is a female-typed variant of psychopathy and that ASPD is a male-typed variant of psychopathy. Contrary to previous findings, scores on response modulation tasks were not significantly related to psychopathy, or to either HPD or ASPD. The limitations of this study and possibilities for future research in this area are outlined.

Sex differences in the brain, behavior, and neuropsychiatric disorders

NARCIS (Netherlands)

Bao, Ai-Min; Swaab, Dick F.

2010-01-01

Sex differences in the brain are reflected in behavior and in the risk for neuropsychiatric disorders. The fetal brain develops in the male direction due to a direct effect of testosterone on the developing neurons, or in the female direction due to the absence of such a testosterone surge. Because

[Professional stressors and common mental health disorders: Causal links?

Science.gov (United States)

Nicolas, C; Chawky, N; Jourdan-Ionescu, C; Drouin, M-S; Page, C; Houlfort, N; Beauchamp, G; Séguin, M

2017-03-22

According to the World Health Organization, depression has become the leading cause of disability in the world, contributing significantly to the burden of health issues especially in the industrialized countries. This is a major public health problem, with potential impact on work climates, productivity at work and the continued existence of the organizations. Some recent studies have examined potential links between professional factors and common mental health disorders, but none have demonstrated a direct causal link. In the present study, we explored possible links between work-related stressors and common mental health disorders, with the objective of determining priority mental health prevention axes. The study used a life trajectory method. We compared professional stressors and difficulties present in other spheres of life in the last five years between two groups: a group of 29 participants with common mental health disorders during the last five years (depression, anxiety disorders, eating disorders, substance use disorders, pathological gambling), and a group of 29 participants who have not experienced a mental health disorder in the last five years. Data were collected from semi-structured interviews with the participants using a life course analysis method. Each participant was interviewed during two or three meetings of two to three hour duration. Questions regarding difficulties in different spheres of life and mental health were asked. More precisely, data were collected with regards to the presence or absence of mental health disorders in the last five years and the nature of mental health disorders and difficulties. Moreover, we collected data pertaining to the most important positive and negative events in different spheres of life that were present in the last five years, including family life, romantic relationships, social life, academic difficulties, losses and separations, episodes of personal difficulties, financial difficulties as well as

Links between sex-typed time use in middle childhood and gender development in early adolescence.

Science.gov (United States)

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

2004-09-01

The authors studied sex-typing in the kinds (e.g., sports, handicrafts) and social contexts (same- vs. other-sex companions) of children's free time activities, and the links between sex-typed activities and gender development over 2 years. Participants were 200 White, working- and middle-class children (103 girls, 97 boys; mean age = 10.86 years). In annual home interviews, children rated their self-esteem, gender role attitudes and sex-typed personality qualities, academic interests, and school grades. During 7 nightly phone interviews each year, children reported on their activities. Boys were more sex-typed than girls in their peer activities, and children were least sex-typed in their activities with siblings. Sex-typed activities in middle childhood predicted individual differences in gender development in early adolescence. Copyright 2004 American Psychological Association

Sex Differences in Arab Children with Autism Spectrum Disorders

Science.gov (United States)

Amr, Mostafa; Raddad, Dahoud; El-Mehesh, Fatima; Mahmoud, El-Hassanin; El-Gilany, Abdel-Hady

2011-01-01

Although autism spectrum disorders (ASD) prevalence is higher in males than females in Arab countries, few studies address sex differences in autistic symptoms and coexiting behavioral problems. A total of 37 boys and 23 girls recruited from three Arab countries (Egypt, Saudi Arabia, Jordan) matched for age and IQ. They were compared using Indian…

The Great Recession and risk for child abuse and neglect.

Science.gov (United States)

Schneider, William; Waldfogel, Jane; Brooks-Gunn, Jeanne

2017-01-01

This paper examines the association between the Great Recession and four measures of the risk for maternal child abuse and neglect: (1) maternal physical aggression; (2) maternal psychological aggression; (3) physical neglect by mothers; and (4) supervisory/exposure neglect by mothers. It draws on rich longitudinal data from the Fragile Families and Child Wellbeing Study, a longitudinal birth cohort study of families in 20 U.S. cities (N = 3,177; 50% African American, 25% Hispanic; 22% non-Hispanic white; 3% other). The study collected information for the 9-year follow-up survey before, during, and after the Great Recession (2007-2010). Interview dates were linked to two macroeconomic measures of the Great Recession: the national Consumer Sentiment Index and the local unemployment rate. Also included are a wide range of socio-demographic controls, as well as city fixed effects and controls for prior parenting. Results indicate that the Great Recession was associated with increased risk of child abuse but decreased risk of child neglect. Households with social fathers present may have been particularly adversely affected. Results also indicate that economic uncertainty during the Great Recession, as measured by the Consumer Sentiment Index and the unemployment rate, had direct effects on the risk of abuse or neglect, which were not mediated by individual-level measures of economic hardship or poor mental health.

Influence of female sex and fertile age on neuromyelitis optica spectrum disorders.

Science.gov (United States)

Borisow, Nadja; Kleiter, Ingo; Gahlen, Anna; Fischer, Katrin; Wernecke, Klaus-Dieter; Pache, Florence; Ruprecht, Klemens; Havla, Joachim; Krumbholz, Markus; Kümpfel, Tania; Aktas, Orhan; Ringelstein, Marius; Geis, Christian; Kleinschnitz, Christoph; Berthele, Achim; Hemmer, Bernhard; Angstwurm, Klemens; Weissert, Robert; Stellmann, Jan-Patrick; Schuster, Simon; Stangel, Martin; Lauda, Florian; Tumani, Hayrettin; Mayer, Christoph; Zeltner, Lena; Ziemann, Ulf; Linker, Ralf A; Schwab, Matthias; Marziniak, Martin; Then Bergh, Florian; Hofstadt-van Oy, Ulrich; Neuhaus, Oliver; Winkelmann, Alexander; Marouf, Wael; Rückriem, Lioba; Faiss, Jürgen; Wildemann, Brigitte; Paul, Friedemann; Jarius, Sven; Trebst, Corinna; Hellwig, Kerstin

2017-07-01

Gender and age at onset are important epidemiological factors influencing prevalence, clinical presentation, and treatment response in autoimmune diseases. To evaluate the impact of female sex and fertile age on aquaporin-4-antibody (AQP4-ab) status, attack localization, and response to attack treatment in patients with neuromyelitis optica (NMO) and its spectrum disorders (neuromyelitis optica spectrum disorder (NMOSD)). Female-to-male ratios, diagnosis at last visit (NMO vs NMOSD), attack localization, attack treatment, and outcome were compared according to sex and age at disease or attack onset. A total of 186 NMO/SD patients (82% female) were included. In AQP4-ab-positive patients, female predominance was most pronounced during fertile age (female-to-male ratio 23:1). Female patients were more likely to be positive for AQP4-abs (92% vs 55%; p 40 years. Our data suggest an influence of sex and age on susceptibility to AQP4-ab-positive NMO/SD. Genetic and hormonal factors might contribute to pathophysiology of NMO/SD.

Cross-sex hormone treatment does not change sex-sensitive cognitive performance in gender identity disorder patients.

Science.gov (United States)

Haraldsen, Ira R; Egeland, Thore; Haug, Egil; Finset, Arnstein; Opjordsmoen, Stein

2005-12-15

Cognitive performance in untreated early onset gender identity disorder (GID) patients might correspond to their born sex and not to their perceived gender. As a current mode of intervention, cross-sex hormone treatment causes considerable physical changes in GID patients. We asked, as has been suggested, whether this treatment skews cognitive performance towards that of the acquired sex. Somatically healthy male and female early onset GID patients were neuropsychologically tested before, 3 and 12 months after initiating cross-sex hormone treatment, whereas untreated healthy subjects without GID served as controls (C). Performance was assessed by testing six cognitive abilities (perception, arithmetic, rotation, visualization, logic, and verbalization), and controlled for age, education, born sex, endocrine differences and treatment by means of repeated measures analysis of variance. GID patients and controls showed an identical time-dependent improvement in cognitive performance. The slopes were essentially parallel for males and females. There was no significant three-way interaction of born sex by group by time for the six investigated cognitive abilities. Only education and age significantly influenced this improvement. Despite the substantial somatic cross-sex changes in GID patients, no differential effect on cognition over time was found between C and GID participants. The cognitive performance of cross-sex hormone-treated GID patients was virtually identical to that of the control group. The documented test-retest effect should be taken into consideration when evaluating treatment effects generally in psychiatry.

Playing Fair: The Contribution of High-Functioning Recess to Overall School Climate in Low-Income Elementary Schools

Science.gov (United States)

London, Rebecca A.; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey

2015-01-01

Background: Recess is a part of the elementary school day with strong implications for school climate. Positive school climate has been linked to a host of favorable student outcomes, from attendance to achievement. We examine 6 low-income elementary schools' experiences implementing a recess-based program designed to provide safe, healthy,…

The influence of media suggestions about links between criminality and autism spectrum disorder.

Science.gov (United States)

Brewer, Neil; Zoanetti, Jordana; Young, Robyn L

2017-01-01

We examined whether media reports linking criminal behaviour and autism spectrum disorder foster negative attitudes towards individuals with autism spectrum disorder. In a between-subjects design, participants were exposed to (a) a media story in which a murderer was labelled with autism spectrum disorder (media exposure condition) or not labelled with any disorder (control) and (b) an autism spectrum disorder-education condition attacking the myth that people diagnosed with autism spectrum disorder are likely to be violent criminals or a no-autism spectrum disorder-education condition. Participants attitudes towards three different crime perpetrators (one with autism spectrum disorder) described in separate vignettes were probed. The media exposure linking crime and autism spectrum disorder promoted more negative attitudes towards individuals with autism spectrum disorder, whereas the positive autism spectrum disorder-related educational message had the opposite effect. © The Author(s) 2016.

Mechanisms of Sex Differences in Fear and Posttraumatic Stress Disorder.

Science.gov (United States)

Ramikie, Teniel Sonya; Ressler, Kerry J

2018-05-15

Following sexual maturity, females disproportionately have higher rates of posttraumatic stress disorder (PTSD) and experience greater symptom severity and chronicity as compared with males. This observation has led many to examine sex differences in PTSD risk factors. Though relatively few, these studies reveal that the root causes of PTSD sex differences are complex, and partly represent interactions between sex-specific nonbiological and biological risk factors, which differentially shape PTSD vulnerability. Moreover, these studies suggest that sex-specific PTSD vulnerability is partly regulated by sex differences in fear systems. Fear, which represents a highly conserved adaptive response to threatening environmental stimuli, becomes pathological in trauma- and stress-based psychiatric syndromes, such as PTSD. Over the last 30 years, considerable progress has been made in understanding normal and pathological molecular and behavioral fear processes in humans and animal models. Thus, fear mechanisms represent a tractable PTSD biomarker in the study of sex differences in fear. In this review, we discuss studies that examine nonbiological and biological sex differences that contribute to normal and pathological fear behaviors in humans and animal models. This, we hope, will shed greater light on the potential mechanisms that contribute to increased PTSD vulnerability in females. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

The Clinician Perspective on Sex Differences in Autism Spectrum Disorders

Science.gov (United States)

Jamison, Rene; Bishop, Somer L.; Huerta, Marisela; Halladay, Alycia K.

2017-01-01

Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited,…

Examining the intersection of sex and stress in modelling neuropsychiatric disorders.

Science.gov (United States)

Goel, N; Bale, T L

2009-03-01

Sex-biased neuropsychiatric disorders, including major depressive disorder and schizophrenia, are the major cause of disability in the developed world. Elevated stress sensitivity has been proposed as a key underlying factor in disease onset. Sex differences in stress sensitivity are associated with corticotrophin-releasing factor (CRF) and serotonin neurotransmission, which are important central regulators of mood and coping responses. To elucidate the underlying neurobiology of stress-related disease predisposition, it is critical to develop appropriate animal models of stress pathway dysregulation. Furthermore, the inclusion of sex difference comparisons in stress responsive behaviours, physiology and central stress pathway maturation in these models is essential. Recent studies by our laboratory and others have begun to investigate the intersection of stress and sex where the development of mouse models of stress pathway dysregulation via prenatal stress experience or early-life manipulations has provided insight into points of developmental vulnerability. In addition, examination of the maturation of these pathways, including the functional importance of the organisational and activational effects of gonadal hormones on stress responsivity, is essential for determination of when sex differences in stress sensitivity may begin. In such studies, we have detected distinct sex differences in stress coping strategies where activational effects of testosterone produced females that displayed male-like strategies in tests of passive coping, but were similar to females in tests of active coping. In a second model of elevated stress sensitivity, male mice experiencing prenatal stress early in gestation showed feminised physiological and behavioural stress responses, and were highly sensitive to a low dose of selective serotonin reuptake inhibitors. Analyses of expression and epigenetic patterns revealed changes in CRF and glucocorticoid receptor genes in these mice

Examining the intersection of sex and stress in modeling neuropsychiatric disorders

Science.gov (United States)

Goel, Nirupa; Bale, Tracy L.

2009-01-01

Sex-biased neuropsychiatric disorders, including major depressive disorder and schizophrenia, are the major cause of disability in the developed world. Elevated stress sensitivity has been proposed as a key underlying factor in disease onset. Sex differences in stress sensitivity are associated with CRF and serotonin neurotransmission, important central regulators of mood and coping responses. To elucidate the underlying neurobiology of stress-related disease predisposition, it is critical to develop appropriate animal models of stress pathway dysregulation. Further, the inclusion of sex difference comparisons in stress responsive behaviors, physiology, and central stress pathway maturation in these models is essential. Recent studies by our lab and others have begun to investigate the intersection of stress and sex where the development of mouse models of stress pathway dysregulation via prenatal stress experience or early life manipulations has provided insight into points of developmental vulnerability. In addition, examination of the maturation of these pathways including the functional importance of the organizational and activational effects of gonadal hormones on stress responsivity is essential for determination of when sex differences in stress sensitivity may begin. In such studies, we have detected distinct sex differences in stress coping strategies where activational effects of testosterone produced females that displayed male-like strategies in tests of passive coping, but were similar to females in tests of active coping. In a second model of elevated stress sensitivity, male mice experiencing prenatal stress early in gestation showed feminized physiological and behavioral stress responses, and were highly sensitive to a low dose of SSRI. Analyses of expression and epigenetic patterns revealed changes in CRF and glucocorticoid receptor genes in these mice. Mechanistically, stress early in pregnancy produced a significant sex-dependent effect on

Parental Reports of Stigma Associated with Child’s Disorder of Sex Development

OpenAIRE

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

2015-01-01

Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn?17 years) questionnaire comprising two scales, child-focused and parent-focused, and three subscales, perceived stigmatization, future worries, and feelings about the child's condition. ...

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

Science.gov (United States)

Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

2010-01-01

There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

Relationships between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men – a preliminary study

Directory of Open Access Journals (Sweden)

Rotter I

2016-11-01

Full Text Available Iwona Rotter,1 Karolina Skonieczna-Żydecka,2 Danuta Kosik-Bogacka,3 Grażyna Adler,2 Aleksandra Rył,4 Maria Laszczyńska4 1Department of Medical Rehabilitation, 2Department of Gerontobiology, 3Department of Biology and Medical Parasitology, 4Department of Histology and Developmental Biology, Pomeranian Medical University, Szczecin, Poland Purpose: Metabolic disorders, including MetS, obesity, and lipid disorders, may be related to genetic factors. Metabolic disorders are associated with decreased TS levels in aging men. The aim of this study was to evaluate the relationship between FTO rs9939609, MC4R rs17782313, and PPARɣ rs1801282 polymorphisms and the presence of MetS and its components, the concurrent lipid disorders, as well as sex hormone concentrations. Subjects and methods: This study involved 272 men of Caucasian descent aged 50–75 years. Lipid profile, including TCh, LDL, HDL, and TG, was evaluated by spectrophotometric method. Anthropometric measurements concerned WC and blood pressure. MetS was diagnosed according to the criteria of the IDF. Sex hormone profile, including TST, FTS, E2, DHEAS, and SHBG, was examined using enzyme-linked immunosorbent assay. Polymorphisms within FTO, MC4R, and PPARɣ genes were identified using polymerase chain reaction-restriction fragments length polymorphism. Results: This study did not show links between the analyzed genetic polymorphisms and the presence of MetS, T2DM, HT, and obesity. However, higher concentrations of TCh and LDL were found in men with the FTO rs9939609 polymorphism in the recessive mode of inheritance (P=0.03 and P=0.05, respectively. Lower WC was found to be associated with MC4R rs17782313 gene inherited in the same model (P=0.005. Conclusion: FTO rs9939609, MC4R rs17782313, and PPARɣ rs1801282 polymorphisms seem to have little effect on the incidence of metabolic malfunctions and no effect on androgen-related disorders in the examined middle-aged and elderly men

Sex-Steroid Hormone Manipulation Reduces Brain Response to Reward

DEFF Research Database (Denmark)

Macoveanu, Julian; Henningsson, Susanne; Pinborg, Anja

2016-01-01

's vulnerability for mood disorders is linked to sex-steroid dynamics by investigating the effects of a pharmacologically induced fluctuation in ovarian sex steroids on the brain response to monetary rewards. In a double-blinded placebo controlled study, healthy women were randomized to receive either placebo...... or the gonadotropin-releasing hormone agonist (GnRHa) goserelin, which causes a net decrease in sex-steroid levels. Fifty-eight women performed a gambling task while undergoing functional MRI at baseline, during the mid-follicular phase, and again following the intervention. The gambling task enabled us to map...

Examining sex differences in DSM-IV-TR narcissistic personality disorder symptom expression using Item Response Theory (IRT).

Science.gov (United States)

Hoertel, Nicolas; Peyre, Hugo; Lavaud, Pierre; Blanco, Carlos; Guerin-Langlois, Christophe; René, Margaux; Schuster, Jean-Pierre; Lemogne, Cédric; Delorme, Richard; Limosin, Frédéric

2017-12-14

The limited published literature on the subject suggests that there may be differences in how females and males experience narcissistic personality disorder (NPD) symptoms. The aim of this study was to use methods based on item response theory to examine whether, when equating for levels of NPD symptom severity, there are sex differences in the likelihood of reporting DSM-IV-TR NPD symptoms. We conducted these analyses using a large, nationally representative sample from the USA (n=34,653), the second wave of the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC). There were statistically and clinically significant sex differences for 2 out of the 9 DSM-IV-TR NPD symptoms. We found that males were more likely to endorse the item 'lack of empathy' at lower levels of narcissistic personality disorder severity than females. The item 'being envious' was a better indicator of NPD severity in males than in females. There were no clinically significant sex differences on the remaining NPD symptoms. Overall, our findings indicate substantial sex differences in narcissistic personality disorder symptom expression. Although our results may reflect sex-bias in diagnostic criteria, they are consistent with recent views suggesting that narcissistic personality disorder may be underpinned by shared and sex-specific mechanisms. Copyright © 2017 Elsevier B.V. All rights reserved.

Rhinitis and sleep disorders: The trigeminocardiac reflex link?

Science.gov (United States)

Bindu, Barkha; Singh, Gyaninder Pal; Chowdhury, Tumul; Schaller, Bernhard

2017-06-01

Rhinitis, allergic or non-allergic, is an inflammatory condition of the nose. It is associated with a wide range of sleep disorders that are generally attributed to nasal congestion and presence of inflammatory mediators like cytokines and interleukins. However, the pathophysiological mechanisms behind these sleep disorders remain unclear. On the other hand, the trigeminocardiac reflex (TCR) has recently been linked to various sleep disorders like obstructive sleep apnea, sleep bruxism and rapid eye movement (REM) sleep apnea. TCR can be incited by stimulation of the trigeminal nerve or the area innervated by its branches including the nasal mucosa. Trigeminal nasal afferents can be activated on exposure to noxious stimuli (mechanical or chemical) like ammonia vapors, carbon-dioxide, nicotine, hypertonic saline, air-puffs and smoke. In rhinitis, there is associated neuronal hyper-responsiveness of sensory nasal afferents due to inflammation (which can be suppressed by steroids). This may further lead to increased occurrence of TCR in rhinitis. Moreover, there is involvement of autonomic nervous system both in rhinitis and TCR. In TCR, parasympathetic over activity and sympathetic inhibition leads to sudden onset bradycardia, hypotension, apnea and gastric motility. Also, the autonomic imbalance reportedly plays a significant role in the pathophysiology of rhinitis. Thus, considering these facts we hypothesize that the TCR could be the link between rhinitis and sleep disorders and we believe that further research in this direction may yield significant development in our understanding of sleep disorders in rhinitis. Copyright © 2017 Elsevier Ltd. All rights reserved.

Social phobia as a comorbid condition in sex offenders with paraphilia or impulse control disorder.

Science.gov (United States)

Hoyer, J; Kunst, H; Schmidt, A

2001-07-01

Studies on the prevalence of social anxiety in sex offenders show mixed results. This may be due to social anxiety being heightened only in diagnostic subgroups of sex offenders, namely in paraphiliacs. In study 1, 72 mentally disordered sexual delinquents and 30 controls were screened for social anxiety with the Social Interaction Anxiety Scale and the Social Phobia Scale by Mattick and Clarke (German versions). In study 2, 55 mentally disordered sexual delinquents were diagnosed with a structured clinical interview. In both studies, sex offenders were categorized as either paraphilic or impulse control disordered (without paraphilia) according to research criteria. Study 1 showed markedly heightened scores for social anxiety in paraphiliacs, particularly for social interaction anxiety. Study 2 found a high lifetime and point prevalence of social phobia in paraphiliacs for which corroborating evidence was again found in questionnaire results. Implications for further research, diagnostic procedures, and therapy are discussed.

Identification of a sex-linked SNP marker in the salmon louse (Lepeophtheirus salmonis using RAD sequencing.

Directory of Open Access Journals (Sweden)

Stephen N Carmichael

Full Text Available The salmon louse (Lepeophtheirus salmonis (Krøyer, 1837 is a parasitic copepod that can, if untreated, cause considerable damage to Atlantic salmon (Salmo salar Linnaeus, 1758 and incurs significant costs to the Atlantic salmon mariculture industry. Salmon lice are gonochoristic and normally show sex ratios close to 1:1. While this observation suggests that sex determination in salmon lice is genetic, with only minor environmental influences, the mechanism of sex determination in the salmon louse is unknown. This paper describes the identification of a sex-linked Single Nucleotide Polymorphism (SNP marker, providing the first evidence for a genetic mechanism of sex determination in the salmon louse. Restriction site-associated DNA sequencing (RAD-seq was used to isolate SNP markers in a laboratory-maintained salmon louse strain. A total of 85 million raw Illumina 100 base paired-end reads produced 281,838 unique RAD-tags across 24 unrelated individuals. RAD marker Lsa101901 showed complete association with phenotypic sex for all individuals analysed, being heterozygous in females and homozygous in males. Using an allele-specific PCR assay for genotyping, this SNP association pattern was further confirmed for three unrelated salmon louse strains, displaying complete association with phenotypic sex in a total of 96 genotyped individuals. The marker Lsa101901 was located in the coding region of the prohibitin-2 gene, which showed a sex-dependent differential expression, with mRNA levels determined by RT-qPCR about 1.8-fold higher in adult female than adult male salmon lice. This study's observations of a novel sex-linked SNP marker are consistent with sex determination in the salmon louse being genetic and following a female heterozygous system. Marker Lsa101901 provides a tool to determine the genetic sex of salmon lice, and could be useful in the development of control strategies.

Growth in Spending on and Use of Services for Mental and Substance Use Disorders After the Great Recession Among Individuals With Private Insurance.

Science.gov (United States)

Mark, Tami L; Hodgkin, Dominic; Levit, Katharine R; Thomas, Cindy Parks

2016-05-01

Recessions are associated with increased prevalence of mental and substance use disorders, but their effect on use of behavioral health services is less clear. This study examined changes in spending per enrollee for behavioral health services compared with general medical services among individuals with private insurance following the Great Recession that began in 2007. The National Survey on Drug Use and Health was used to examine the prevalence of behavioral health conditions among persons with private insurance from 2004 to 2013. Truven Health MarketScan Commercial Claims and Encounters data (2004-2012) were used to calculate use of and spending on treatment of behavioral and general medical conditions before and after the recession among individuals with employer-sponsored private health insurance. There was a statistically significant increase in serious psychological distress and episodes of major depression between 2007 and 2010. Between 2004-2009 and 2009-2012, the growth in average annual spending per individual slowed for general medical care (from 6.6% to 3.7%) but accelerated for behavioral health care (from 4.8% to 6.6%). From 2009 to 2012, the percentage of individuals receiving inpatient treatment, outpatient treatment, and prescription drugs for behavioral conditions increased, whereas use of these services for general medical care decreased or remained flat. Out-of-pocket costs increased more slowly for behavioral conditions than for other medical conditions. The recession was associated with increased need for and use of behavioral health services among individuals with private insurance. The Mental Health Parity and Addiction Equity Act may have also played a role in facilitating increasing use of behavioral health services after 2008.

Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.

Science.gov (United States)

Chan, Angel O K; But, W M; Lee, C Y; Lam, Y Y; Ng, K L; Loung, P Y; Lam, Aimen; Cheng, C W; Shek, C C; Wong, W S; Wong, K F; Wong, M Y; Tse, W Y

2015-12-01

Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. The objective of this study was to determine the aetiology of this group of disorders in the Hong Kong Chinese population. Five public hospitals in Hong Kong. Patients with 46,XY disorders of sex development under the care of paediatric endocrinologists between July 2009 and June 2011. Measurement of serum gonadotropins, adrenal and testicular hormones, and urinary steroid profiling. Mutational analysis of genes involved in sexual differentiation by direct DNA sequencing and multiplex ligation-dependent probe amplification. Overall, 64 patients were recruited for the study. Their age at presentation ranged from birth to 17 years. The majority presented with ambiguous external genitalia including micropenis and severe hypospadias. A few presented with delayed puberty and primary amenorrhea. Baseline and post-human chorionic gonadotropin-stimulated testosterone and dihydrotestosterone levels were not discriminatory in patients with or without AR gene mutations. Of the patients, 22 had a confirmed genetic disease, with 11 having 5α-reductase 2 deficiency, seven with androgen insensitivity syndrome, one each with cholesterol side-chain cleavage enzyme deficiency, Frasier syndrome, NR5A1-related sex reversal, and persistent Müllerian duct syndrome. Our findings suggest that 5α-reductase 2 deficiency and androgen insensitivity syndrome are possibly the two most common causes of 46,XY disorders of sex development in the Hong Kong Chinese population. Since hormonal findings can be unreliable, mutational analysis of the SRD5A2 and AR genes should be considered the first-line tests for these patients.

Attention Deficit Hyperactivity Disorder, Tic Disorder, and Allergy: Is There a Link? A Nationwide Population-Based Study

Science.gov (United States)

Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei

2013-01-01

Background: Attention deficit hyperactivity disorder (ADHD) and tic disorder usually co-occur in the same individuals, but the underlying mechanisms remain unclear. Previous evidence has shown that a frequent coexistence of allergic diseases was noted in patients with ADHD or tic disorder. We attempted to investigate the possible link among ADHD,…

The Great Recession and the Health of Young Children: A Fixed Effects Analysis in Ireland.

Science.gov (United States)

Reinhard, Erica; Layte, Richard; McCrory, Cathal; Panico, Lidia; Avendano, Mauricio

2018-01-12

Economic recessions have been linked to adult health, but few studies have examined how recessions influence the health of young children. This study examines the impact of life transitions linked to the financial crisis in Ireland on the health of young children. Data came from the Growing Up in Ireland Infant Cohort Study (n = 11,134), which assessed children before (2008), during (2011), and after (2013) the recession and incorporated questions on the impacts of the financial crisis on families. Using fixed effects models to control for confounding, we found that a reduction in welfare benefits during the recession was associated with a significant increase in the risk of asthma (β = 0.0136, 95% confidence interval (95% CI): 0.0062, 0.0328) and atopy (β = 0.0161, 95% CI: 0.0026, 0.0297). While parental job loss was not associated with child health, a reduction in working hours was associated with increased reports of fair or poor child health (β = 0.0235, 95% CI: 0.0041, 0.0429), as were difficulties affording basics (β = 0.0193, 95% CI: 0.0005, 0.0381). Results suggest that failing to protect vulnerable families and children during economic recessions may have long-lasting implications for child health. © The Author(s) 2018. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

DEFF Research Database (Denmark)

Martin, Joanna; Walters, Raymond K; Demontis, Ditte

2017-01-01

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk...... disorder and congenital malformations), potentially indicating some clinical and etiological heterogeneity. Polygenic risk score analysis did not support a higher burden of ADHD common risk variants in female cases (odds ratio [confidence interval] = 1.02 [0.98-1.06], p = .28). In contrast, epidemiological...... using two methods suggested near complete sharing of common variant effects across sexes, with rg estimates close to 1. Analyses of population data, however, indicated that female individuals with ADHD may be at especially high risk for certain comorbid developmental conditions (i.e., autism spectrum...

Disorders of sex development in Indonesia: The course of psychological development in late identified patients

NARCIS (Netherlands)

A. Ediati (Annastasia)

2014-01-01

markdownabstract__Abstract__ In individuals with a disorder of sex development (DSD), prenatal development into male or female has deviated. Consequently, the child is born with anomalies of the genital tract and may have ambiguous sex characteristics. In Western countries, identification and

Sex differences in objective measures of sleep in post-traumatic stress disorder and healthy control subjects.

Science.gov (United States)

Richards, Anne; Metzler, Thomas J; Ruoff, Leslie M; Inslicht, Sabra S; Rao, Madhu; Talbot, Lisa S; Neylan, Thomas C

2013-12-01

A growing literature shows prominent sex effects for risk for post-traumatic stress disorder and associated medical comorbid burden. Previous research indicates that post-traumatic stress disorder is associated with reduced slow wave sleep, which may have implications for overall health, and abnormalities in rapid eye movement sleep, which have been implicated in specific post-traumatic stress disorder symptoms, but most research has been conducted in male subjects. We therefore sought to compare objective measures of sleep in male and female post-traumatic stress disorder subjects with age- and sex-matched control subjects. We used a cross-sectional, 2 × 2 design (post-traumatic stress disorder/control × female/male) involving83 medically healthy, non-medicated adults aged 19-39 years in the inpatient sleep laboratory. Visual electroencephalographic analysis demonstrated that post-traumatic stress disorder was associated with lower slow wave sleep duration (F(3,82)  = 7.63, P = 0.007) and slow wave sleep percentage (F(3,82)  = 6.11, P = 0.016). There was also a group × sex interaction effect for rapid eye movement sleep duration (F(3,82)  = 4.08, P = 0.047) and rapid eye movement sleep percentage (F(3,82)  = 4.30, P = 0.041), explained by greater rapid eye movement sleep in post-traumatic stress disorder females compared to control females, a difference not seen in male subjects. Quantitative electroencephalography analysis demonstrated that post-traumatic stress disorder was associated with lower energy in the delta spectrum (F(3,82)  = 6.79, P = 0.011) in non-rapid eye movement sleep. Slow wave sleep and delta findings were more pronounced in males. Removal of post-traumatic stress disorder subjects with comorbid major depressive disorder, who had greater post-traumatic stress disorder severity, strengthened delta effects but reduced rapid eye movement effects to non-significance. These findings support previous evidence that post

XX testicular disorder of sex differentiation: case report

Directory of Open Access Journals (Sweden)

Bianca Bianco

2011-09-01

Full Text Available The 46 XX, testicular sex differentiation disorder, or XX malesyndrome, is a rare condition detected by cytogenetics, in whichtesticular development occurs in the absence of the Y chromosome.It occurs in 1:20,000 to 25,000 male newborns and represents 2%of cases of male infertility. About 90% of individuals present withnormal phenotype at birth and are generally diagnosed after pubertyfor hypoganadism, gynecomastia, and/or infertility. The authorspresent the report of an XX male with complete masculinization andinfertility.

Tebufenozide resistance is associated with sex-linked inheritance in Plutella xylostella.

Science.gov (United States)

Cao, Guang-Chun; Han, Zhao-Jun

2015-04-01

The diamondback moth (DBM), Plutella xylostella (L.), is a major pest of cruciferous crops. Tebufenozide, a novel nonsteroidal ecdysone agonist, exhibits good efficacy and has played an increasingly important role in the control of Lepidopteran pests in China. For its resistance management, the genetic basis of tebufenozide resistance was studied using a laboratory selected resistant strain of DBM (resistant ratio, RR = 268). A series of crosses with laboratory susceptible and resistant strains revealed that tebufenozide resistance in this pest was partially biased toward female heredity, with a large difference in RR for F1 (RR = 29) and rF1 progeny (RR = 147). The dominance calculated for these 2 cross progeny was -0.788 and 0.09, respectively. Further analysis showed that the susceptible male and female larvae were similar in their sensitivity to tebufenozide, but the resistant female larvae showed significantly higher resistance than the resistant male larvae. The heredity of tebufenozide resistance in DBM might be linked with the W sex chromosome, which suggested that DBM has the ability to develop high levels of resistance to tebufenozide. This is the first report of sex-linked inheritance of tebufenozide resistance in P. xylostella (L.). © 2013 Institute of Zoology, Chinese Academy of Sciences.

Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

DEFF Research Database (Denmark)

Lethagen, Stefan Rune; Dunø, Morten; Nielsen, Lars Bo

2013-01-01

Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exo...... quality control systems in place, and participate in established external quality assessment programs....... the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal...

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Science.gov (United States)

Hiraoka, M; Rossi, F; Trese, M T; Shastry, B S

2001-01-01

Juvenile retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders. Both disorders, in the majority of cases, are monogenic and are caused by mutations in the RS and ND genes, respectively. Here we report the identification of a family in which mutations in both the RS and ND genes are segregating with RS pathology. Although the mutations identified in this report were not functionally characterized with regard to their pathogenicity, it is likely that both of them are involved in RS pathology in the family analyzed. This suggests the complexity and digenic nature of monogenic human disorders in some cases. If this proves to be a widespread problem, it will complicate the strategies used to identify the genes involved in diseases and to develop methods for intervention.

46, XX male: a case study of clinical, hormonal and molecular cytogenetic evaluation of sex development disorder

International Nuclear Information System (INIS)

Ali, S.; Shahid, S.M.; Azhar, A.

2012-01-01

Disorders of sex development (DSD) create medical and social dilemma. Maleness with XX genotype is a rare genetic condition affecting one in 24,000 new-born males. The XX male syndrome is a varied condition characterized by a spectrum of clinical presentation. ranging from normal male genitalia to ambiguous sex. Chromosomal anomalies are important cause of lack of development in secondary sexual characteristics, delayed puberty, miscarriage, infertility and other associated problems. An individual having ambiguous sex may have lifelong impact on social, psychological and sexual functions. The present case study describes the hormonal, clinical and molecular cytogenetics data of sex development disorders in a patient who was phenotypically male but cytogenetic analysis revealed 46.XX. (author)

Sexual selection and sex differences in the prevalence of childhood externalizing and adolescent internalizing disorders.

Science.gov (United States)

Martel, Michelle M

2013-11-01

Despite the well-established sex difference in prevalence of many childhood and adolescent psychopathological conditions, no integrative metatheory of sex differences in psychopathology exists. This review attempts to provide a metatheoretical framework to guide empirical examination of sex differences in prevalence of childhood-onset "externalizing" and adolescent-onset "internalizing" disorders, based on sexual selection evolutionary theory. Sexual selection theory suggests important between-sex differences in markers, mechanisms, etiology, and developmental timing of risk and resilience relevant to psychopathology. Namely, sexual selection theory hypothesizes that disinhibition and sensation-seeking may be important proximate risk markers for childhood-onset externalizing disorders in males. The theory suggests that these male-biased markers may be a product of their higher exposure to prenatal testosterone, which makes them more susceptible to prenatal stressors with downstream effects on dopaminergic neurotransmission, especially for those with genetic alleles associated with lower dopaminergic function. In contrast, sexual selection theory hypothesizes that negative emotionality, empathy, and cognitive rumination may be important proximate risk markers for adolescent-onset internalizing disorders in females. The theory suggests that these markers are propagated by rapidly rising levels of estradiol at puberty that interact with cortisol and oxytocin. These hormones exert downstream effects on the serotonergic system in such a way as to increase females' sensitivity to interpersonal stressors particularly at puberty and especially for those with lower functional serotonergic activity. Such a metatheory can help integrate prior ideas about sex differences and can also generate new predictions of sex differences in markers, etiology, mechanisms, and developmental timing of common forms of psychopathology. © 2013 American Psychological Association

Sex-linked hypophosphatemia in adults: Prevalence of radiologic features

International Nuclear Information System (INIS)

Hardy, D.C.; Reid, I.R.; Whyte, M.P.; Murphy, W.A.

1987-01-01

The authors performed a retrospective radiologic review of 38 adults (23 women, 15 men; aged 17-77 years) with clinically proved sex-linked hypophosphatemia to determine the prevalence of certain radiologic features, to compare the findings in men (hemizygotes) with findings in women (heterozygotes), and to elucidate the natural history of the disease by comparing a younger group (n = 12; mean age, 18) with an older group (n = 26; mean age, 43). They found age-related diminished skeletal mass on visual and CT studies and increased numbers of bone reinforcement lines (osteopenia) and Looser zones (osteomalacia). Osteoarthritis developed in many joints (88% of the older group), including the knees (87%) ankles (78%), feet (71%), sacroiliac joints (48%), and wrists (43%). Chondrocalcinosis was uncommon. Enthesopathy was absent in the younger group but present in every member of the older group, and was often accompanied by extra ossicles (48% hands; 37% feet). Phalangeal sclerosis (9%) and spinous process bridging (4%) wre uncommon. Except for traction spurs in the older group (60%), the thoracolumbar spine was unremarkable. There was no lumbar spinal stenosis detected by either radiogrammetric or CT measurement. Curvatures of the lower extremity long bones were common in both age groups. In keeping with the mode of genetic transmission, men were more severely affected than women. The authors noted three other skeletal alterations not previously described: (1) flaring of the iliac wgins (33% of the younger group, 75% of the older group), (2) trapezoidal distal femoral condyles (67% vs. 68%), and (3) thick, flat tali (100% vs. 89%). Our study of a large population of adult subjects with sex-linked hypophosphatemia reveals a variety of progressive skeletal features

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Directory of Open Access Journals (Sweden)

Jinglan Zhang

2016-04-01

Full Text Available Genetic leukoencephalopathies (gLEs are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS. The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES, we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G, as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ families. All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. The carrier frequency of the VPS11: c.2536T>G variant is 1:250 in the AJ population (n = 2,026. VPS11 protein is a core component of HOPS (homotypic fusion and protein sorting and CORVET (class C core vacuole/endosome tethering protein complexes involved in membrane trafficking and fusion of the lysosomes and endosomes. The cysteine 846 resides in an evolutionarily conserved cysteine-rich RING-H2 domain in carboxyl terminal regions of VPS11 proteins. Our data shows that the C846G mutation causes aberrant ubiquitination and accelerated turnover of VPS11 protein as well as compromised VPS11-VPS18 complex assembly, suggesting a loss of function in the mutant protein. Reduced VPS11 expression leads to an impaired autophagic activity in human cells. Importantly, zebrafish harboring a vps11 mutation with truncated RING-H2 domain demonstrated a significant reduction in CNS myelination following extensive neuronal death in the hindbrain and midbrain. Thus, our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway.

Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development

Science.gov (United States)

2011-01-01

Background The current study sought to compare levels of overprotection and parenting stress reported by caregivers of children with disorders of sex development at four different developmental stages. Methods Caregivers (N = 59) of children with disorders of sex development were recruited from specialty clinics and were asked to complete the Parent Protection Scale and Parenting Stress Index/Short Form as measures of overprotective behaviors and parenting stress, respectively. Results Analyses of covariance (ANCOVAs) were conducted to examine differences between caregiver report of overprotection and parenting stress. Results revealed that caregivers of infants and toddlers exhibited more overprotective behaviors than caregivers of children in the other age groups. Further, caregivers of adolescents experienced significantly more parenting stress than caregivers of school-age children, and this effect was driven by personal distress and problematic parent-child interactions, rather than having a difficult child. Conclusions These results suggest that caregivers of children with disorders of sex development may have different psychosocial needs based upon their child's developmental stage and based upon the disorder-related challenges that are most salient at that developmental stage. PMID:22074416

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

Science.gov (United States)

Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

Energy Technology Data Exchange (ETDEWEB)

Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

1993-04-01

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

Sex-driven vulnerability in stress and drug abuse.

Science.gov (United States)

Berry, Alessandra; Raggi, Carla; Borgi, Marta; Cirulli, Francesca

2016-01-01

A growing body of literature shows that a link exists between substance abuse and stress and that the crosstalk of sex hormones with the neuroendocrine system might differently prime vulnerability to drug addiction in male and female subjects. Thus, understanding the neurobiological mechanisms of addiction and the identification of sex-driven determinants in vulnerability to drug abuse may help to better devise and/or implement strategic (pharmacological, behavioural, social) interventions to prevent or face the issue of addiction. Differences between sexes can be found at all stages of life (in both the animal model and human studies) and may account for genetic, epigenetic and environmental/hormonal factors that in turn affect the functionality of the whole organism leading also to a sex-driven differential vulnerability or resilience to non-communicable pathologies. These include the onset and precipitation of stress-related psychiatric disorders as well as "substance-related and addictive disorders" (as defined in the DSM-V). This paper reviews the scientific literature highlighting significant differences in male and female subjects in stress and neuroendocrine function and the implications for sex-dependent differential vulnerability to drug addiction.

Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

International Nuclear Information System (INIS)

Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

2004-01-01

Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X-linked

Novel surveillance of psychological distress during the great recession.

Science.gov (United States)

Ayers, John W; Althouse, Benjamin M; Allem, Jon-Patrick; Childers, Matthew A; Zafar, Waleed; Latkin, Carl; Ribisl, Kurt M; Brownstein, John S

2012-12-15

Economic stressors have been retrospectively associated with net population increases in nonspecific psychological distress (PD). However, no sentinels exist to evaluate contemporaneous associations. Aggregate Internet search query surveillance was used to monitor population changes in PD around the United States' Great Recession. Monthly PD query trends were compared with unemployment, underemployment, homes in delinquency and foreclosure, median home value or sale prices, and S&P 500 trends for 2004-2010. Time series analyses, where economic indicators predicted PD one to seven months into the future, were performed in 2011. PD queries surpassed 1,000,000 per month, of which 300,000 may be attributable to the Great Recession. A one percentage point increase in mortgage delinquencies and foreclosures was associated with a 16% (95%CI, 9-24) increase in PD queries one-month, and 11% (95%CI, 3-18) four months later, in reference to a pre-Great Recession mean. Unemployment and underemployment had similar associations half and one-quarter the intensity. "Anxiety disorder", "what is depression", "signs of depression", "depression symptoms", and "symptoms of depression" were the queries exhibiting the strongest associations with mortgage delinquencies and foreclosures, unemployment or underemployment. Housing prices and S&P 500 trends were not associated with PD queries. A non-traditional measure of PD was used. It is unclear if actual clinically significant depression or anxiety increased during the Great Recession. Alternative explanations for strong associations between the Great Recession and PD queries, such as media, were explored and rejected. Because the economy is constantly changing, this work not only provides a snapshot of recent associations between the economy and PD queries but also a framework and toolkit for real-time surveillance going forward. Health resources, clinician screening patterns, and policy debate may be informed by changes in PD query

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4 reveals a requirement for MAPK signalling in mouse sex determination.

Directory of Open Access Journals (Sweden)

Debora Bogani

2009-09-01

Full Text Available Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY. In the developing male (XY gonad, sex-determining region of the Y (SRY protein acts to up-regulate expression of the related gene, SOX9, a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. Despite the requirement for a number of transcription factors and secreted signalling molecules in sex determination, intracellular signalling components functioning in this process have not been defined. Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK signalling pathway in mouse sex determination. Using a forward genetic screen, we identified the recessive boygirl (byg mutation. On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4, a mitogen-activated protein kinase kinase kinase. Analysis of XY byg/byg gonads at 11.5 d post coitum reveals a growth deficit and a failure to support mesonephric cell migration, both early cellular processes normally associated with testis development. Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. Moreover, we describe experiments showing the presence of activated MKK4, a direct target of MAP3K4, and activated p38 in the coelomic region of the XY gonad at 11.5 d post coitum, establishing a link between MAPK signalling in proliferating gonadal somatic cells and regulation of Sry expression. Finally, we provide evidence that haploinsufficiency for Map3k4 accounts for T-associated sex reversal (Tas. These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and

Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex Determination

Science.gov (United States)

Bogani, Debora; Siggers, Pam; Brixey, Rachel; Warr, Nick; Beddow, Sarah; Edwards, Jessica; Williams, Debbie; Wilhelm, Dagmar; Koopman, Peter; Flavell, Richard A.; Chi, Hongbo; Ostrer, Harry; Wells, Sara; Cheeseman, Michael; Greenfield, Andy

2009-01-01

Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY. In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9, a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. Despite the requirement for a number of transcription factors and secreted signalling molecules in sex determination, intracellular signalling components functioning in this process have not been defined. Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. Using a forward genetic screen, we identified the recessive boygirl (byg) mutation. On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. Analysis of XY byg/byg gonads at 11.5 d post coitum reveals a growth deficit and a failure to support mesonephric cell migration, both early cellular processes normally associated with testis development. Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. Moreover, we describe experiments showing the presence of activated MKK4, a direct target of MAP3K4, and activated p38 in the coelomic region of the XY gonad at 11.5 d post coitum, establishing a link between MAPK signalling in proliferating gonadal somatic cells and regulation of Sry expression. Finally, we provide evidence that haploinsufficiency for Map3k4 accounts for T-associated sex reversal (Tas). These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel

Mutagenic effects of irradiated glucose in Drosophila melanogaster

International Nuclear Information System (INIS)

Varma, M.B.; Rao, K.P.; Nandan, S.D.; Rao, M.S.

1982-01-01

The mutagenic effects of irradiated glucose were studied using the sex-linked recessive lethal test in Drosophila melanogaster. Oregon K males of D. melanogaster reared on a medium containing 20 or 40% glucose irradiated with a dose of 0.02, 0.10, 0.20, 2 or 5 Mrad #betta#-rays were scored for the induction of sex-linked recessive lethals. The results showed no significant increase in the frequency of X-lethals in Drosophila at any of the dose levels. (author)

Lundby revisited: first incidence of mental disorders 1947-1997

DEFF Research Database (Denmark)

Bogren, Mats; Mattisson, Cecilia; Horstmann, Vibeke

2007-01-01

OBJECTIVE: To investigate how first incidence of various mental disorders changed between the periods of 1947-1972 to 1972-1997 in the Lundby cohort. METHOD: First-incidence rates of mental disorders were calculated for two 25 year periods and ten 5 year periods. RESULTS: From 1947-1972 to 1972......-1997 a decrease in almost all age- and sex-specific incidences of neurotic and organic brain disorders was observed, whereas incidence rates of psychotic disorders increased consistently in male subjects but decreased in most age intervals in female subjects. For both sexes the age-standardized 5 year period...... incidences of neurotic disorders decreased after 1972, fluctuated for psychotic disorders 1947-1997 and decreased steadily for organic disorders 1947-1997. CONCLUSIONS: The reduction in neurotic and organic brain disorder incidences may be linked to structural changes in society and medical advances...

Autism spectrum disorder symptoms in juvenile suspects of sex offenses.

Science.gov (United States)

't Hart-Kerkhoffs, Lisette A; Jansen, Lucres M; Doreleijers, Theo A; Vermeiren, Robert; Minderaa, Ruud B; Hartman, Catharina A

2009-02-01

To investigate autism spectrum disorder (ASD) symptoms in juvenile suspects of sex offenses. A group of 175 juvenile suspected sex offenders (all males, mean +/- SD age = 14.9 +/- 1.4 years) was compared with a matched healthy control group (N = 500, mean +/- SD age = 14.0 +/- 1.4 years) and a group of children with DSM-IV-diagnosed ASD (N = 114, mean +/- SD age = 14.2 +/- 1.9 years) with respect to autistic symptoms as measured by means of a standardized questionnaire, the Children's Social Behavior Questionnaire. Furthermore, specific subgroups of sexual offenders, i.e., child molesters, solo peer offenders, and group offenders, were compared with regard to levels of ASD symptoms. The study was conducted from May 2003 to December 2006. Significantly higher levels of ASD symptoms were found in juvenile sex offenders than in healthy controls, while levels were lower than in the ASD group (F = 148.259, p symptoms than group offenders (F = 5.127, p symptoms are higher in juvenile suspects of sex offenses as compared to the healthy population, which argues for considering specific diagnostic assessment in this population, especially in solo offenders and child molesters. Copyright 2009 Physicians Postgraduate Press, Inc.

Inherent X-Linked Genetic Variability and Cellular Mosaicism Unique to Females Contribute to Sex-Related Differences in the Innate Immune Response

Directory of Open Access Journals (Sweden)

Zoltan Spolarics

2017-11-01

Full Text Available Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis. We describe the differences in X chromosome (ChrX regulation between males and females and its consequences in the context of common X-linked polymorphisms at the individual as well as population level. We also discuss the potential pathophysiological and immune-modulatory aspects of ChrX cellular mosaicism, which is unique to females and how this may contribute to sex-biased immune-modulation. The potential confounding effects of ChrX skewing of cell progenitors at the bone marrow is also presented together with aspects of acute trauma-induced de novo ChrX skewing at the periphery. In support of the hypothesis, novel observations indicating ChrX skewing in a female trauma cohort as well as case studies depicting the temporal relationship between trauma-induced cellular skewing and the clinical course are also described. Finally, we list and discuss a selected set of polymorphic X-linked genes, which are frequent in the population and have key regulatory or metabolic functions in the innate immune response and, therefore, are primary candidates for mediating sex-biased immune responses. We conclude that sex-related differences in a variety of disease processes including the innate inflammatory response to injury

Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development

Directory of Open Access Journals (Sweden)

Hullmann Stephanie E

2011-11-01

Full Text Available Abstract Background The current study sought to compare levels of overprotection and parenting stress reported by caregivers of children with disorders of sex development at four different developmental stages. Methods Caregivers (N = 59 of children with disorders of sex development were recruited from specialty clinics and were asked to complete the Parent Protection Scale and Parenting Stress Index/Short Form as measures of overprotective behaviors and parenting stress, respectively. Results Analyses of covariance (ANCOVAs were conducted to examine differences between caregiver report of overprotection and parenting stress. Results revealed that caregivers of infants and toddlers exhibited more overprotective behaviors than caregivers of children in the other age groups. Further, caregivers of adolescents experienced significantly more parenting stress than caregivers of school-age children, and this effect was driven by personal distress and problematic parent-child interactions, rather than having a difficult child. Conclusions These results suggest that caregivers of children with disorders of sex development may have different psychosocial needs based upon their child's developmental stage and based upon the disorder-related challenges that are most salient at that developmental stage.

Sex differences in the timing of identification among children and adults with autism spectrum disorders

NARCIS (Netherlands)

Begeer, S.; Mandell, S.; Wijnker-Holmes, B.; Venderbosch, S.; Rem, D.; Stekelenburg, F.; Koot, H.M.

2013-01-01

To examine differences by sex in the timing of identification of individuals with autism spectrum disorders (ASD), survey data were collected in the Netherlands from 2,275 males and females with autistic disorder, Asperger's syndrome and PDD-NOS. Among participants <18 years of age, females with

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Science.gov (United States)

Rees, E; Kirov, G; Walters, J T; Richards, A L; Howrigan, D; Kavanagh, D H; Pocklington, A J; Fromer, M; Ruderfer, D M; Georgieva, L; Carrera, N; Gormley, P; Palta, P; Williams, H; Dwyer, S; Johnson, J S; Roussos, P; Barker, D D; Banks, E; Milanova, V; Rose, S A; Chambert, K; Mahajan, M; Scolnick, E M; Moran, J L; Tsuang, M T; Glatt, S J; Chen, W J; Hwu, H-G; Neale, B M; Palotie, A; Sklar, P; Purcell, S M; McCarroll, S A; Holmans, P; Owen, M J; O'Donovan, M C

2015-07-21

Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.

Sex-sensitive cognitive performance in untreated patients with early onset gender identity disorder.

Science.gov (United States)

Haraldsen, I R; Opjordsmoen, S; Egeland, T; Finset, A

2003-10-01

We explored whether the cognitive performance of gender identity disorder patients (GID) was comparable to that of their biological sex or skewed towards that of their gender identity. We tested four potentially sex-sensitive cognitive factors (rotation, visualization, perception, and verbalization) as well as two neutral factors (logic and arithmetic) in GID patients from Norway (GID-N, n = 33) or the USA (GID-US, n = 19) and in a control group (C, n = 29). The testing was undertaken prior to cross sex hormone treatment. Four-way ANOVA was applied in the final analysis of the cognitive performance and its dependency on different predictors (age, biological sex, education, group). In both GID groups as well as in the control group (C) males excelled in visualization and rotation, also when controlling for potential confounders (biological sex, group, age and education). No female advantage was detected. Furthermore, no interaction between biological sex and group assignment was revealed in the samples. In this study the cognitive pattern of GID patients is consistent with that of their biological sex and not that of their gender identity.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Science.gov (United States)

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Barriers for recess physical activity

DEFF Research Database (Denmark)

Pawlowski, Charlotte Skau; Tjørnhøj-Thomsen, Tine; Schipperijn, Jasper

2014-01-01

BACKGROUND: Many children, in particular girls, do not reach the recommended amount of daily physical activity. School recess provides an opportunity for both boys and girls to be physically active, but barriers to recess physical activity are not well understood. This study explores gender...... differences in children's perceptions of barriers to recess physical activity. Based on the socio-ecological model four types of environmental barriers were distinguished: natural, social, physical and organizational environment. METHODS: Data were collected through 17 focus groups (at 17 different schools...... this study, we recommend promoting recess physical activity through a combination of actions, addressing barriers within the natural, social, physical and organizational environment....

Sex differences in the neuro-immune consequences of stress: Focus on depression and anxiety.

Science.gov (United States)

Bekhbat, Mandakh; Neigh, Gretchen N

2018-01-01

Women appear to be more vulnerable to the depressogenic effects of inflammation than men. Chronic stress, one of the most pertinent risk factors of depression and anxiety, is known to induce behavioral and affective-like deficits via neuroimmune alterations including activation of the brain's immune cells, pro-inflammatory cytokine expression, and subsequent changes in neurotransmission and synaptic plasticity within stress-related neural circuitry. Despite well-established sexual dimorphisms in the stress response, immunity, and prevalence of stress-linked psychiatric illnesses, much of current research investigating the neuroimmune impact of stress remains exclusively focused on male subjects. We summarize and evaluate here the available data regarding sex differences in the neuro-immune consequences of stress, and some of the physiological factors contributing to these differences. Furthermore, we discuss the extent to which sex differences in stress-related neuroinflammation can account for the overall female bias in stress-linked psychiatric disorders including major depressive disorder and anxiety disorders. The currently available evidence from rodent studies does not unequivocally support the peripheral inflammatory changes seen in women following stress. Replication of many recent findings in stress-related neuroinflammation in female subjects is necessary in order to build a framework in which we can assess the extent to which sex differences in stress-related inflammation contribute to the overall female bias in stress-related affective disorders. Copyright © 2017 Elsevier Inc. All rights reserved.

Sex, stress, and epigenetics: regulation of behavior in animal models of mood disorders

Directory of Open Access Journals (Sweden)

Hodes Georgia E

2013-01-01

Full Text Available Abstract Women have a higher incidence of stress related disorders including depression and generalized anxiety disorder, and epigenetic mechanisms likely contribute to this sex difference. Evidence from preclinical research suggests that epigenetic mechanisms are responsible for both sexual dimorphism of brain regions and sensitivity of the stress response. Epigenetic modifications such as DNA methylation and histone modifications can occur transgenerationally, developmentally, or in response to environmental stimuli such as stress exposure. This review will provide an overview of the various forms of epigenetic modifications observed in the central nervous system and will explain how these mechanisms contribute to a sexually dimorphic brain. It will also discuss the ways in which epigenetic alterations coincide with, and functionally contribute to, the behavioral response to stress across the lifespan. Ultimately, this review will focus on novel research utilizing animal models to investigate sex differences in epigenetic mechanisms that influence susceptibility to stress. Exploration of this relationship reveals epigenetic mechanisms with the potential to explain sexual dimorphism in the occurrence of stress related disorders.

Sex Differences in the Relationship Between Conduct Disorder and Cortical Structure in Adolescents.

Science.gov (United States)

Smaragdi, Areti; Cornwell, Harriet; Toschi, Nicola; Riccelli, Roberta; Gonzalez-Madruga, Karen; Wells, Amy; Clanton, Roberta; Baker, Rosalind; Rogers, Jack; Martin-Key, Nayra; Puzzo, Ignazio; Batchelor, Molly; Sidlauskaite, Justina; Bernhard, Anka; Martinelli, Anne; Kohls, Gregor; Konrad, Kerstin; Baumann, Sarah; Raschle, Nora; Stadler, Christina; Freitag, Christine; Sonuga-Barke, Edmund J S; De Brito, Stephane; Fairchild, Graeme

2017-08-01

Previous studies have reported reduced cortical thickness and surface area and altered gyrification in frontal and temporal regions in adolescents with conduct disorder (CD). Although there is evidence that the clinical phenotype of CD differs between males and females, no studies have examined whether such sex differences extend to cortical and subcortical structure. As part of a European multisite study (FemNAT-CD), structural magnetic resonance imaging (MRI) data were collected from 48 female and 48 male participants with CD and from 104 sex-, age-, and pubertal-status-matched controls (14-18 years of age). Data were analyzed using surface-based morphometry, testing for effects of sex, diagnosis, and sex-by-diagnosis interactions, while controlling for age, IQ, scan site, and total gray matter volume. CD was associated with cortical thinning and higher gyrification in ventromedial prefrontal cortex in both sexes. Males with CD showed lower, and females with CD showed higher, supramarginal gyrus cortical thickness compared with controls. Relative to controls, males with CD showed higher gyrification and surface area in superior frontal gyrus, whereas the opposite pattern was seen in females. There were no effects of diagnosis or sex-by-diagnosis interactions on subcortical volumes. Results are discussed with regard to attention-deficit/hyperactivity disorder, depression, and substance abuse comorbidity, medication use, handedness, and CD age of onset. We found both similarities and differences between males and females in CD-cortical structure associations. This initial evidence that the pathophysiological basis of CD may be partly sex-specific highlights the need to consider sex in future neuroimaging studies and suggests that males and females may require different treatments. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

[Identification of the genetic sex chromosomes in the monogenic blowfly Chrysomya rufifacies (Calliphoridae, Diptera)].

Science.gov (United States)

Ullerich, F H

1975-01-01

Previous investigations have shown the sex determination in the monogenic blowfly Chrysomya rufifacies to be controlled by a cytologically not discernible homogametry-heterogamety mechanism in the female. Female-producing (thelygenic) females are assumed to be heterozygous for a dominant female sex realizer (F') with sex-predetermining properties, while male-producing (arrhenogenic) females as well as males are supposed to be homozygous for the recessive allele (f). In order to identify the genetic sex chromosomes of C. rufifacies among its five pairs of long euchromatic chromosomes (nos. 1-5) plus one pair of small heterochromatic ones (no. 6), all chromosomes were marked by reciprocal translocations induced by X-ray treatment of adult males. The inheritance of thirteen different heteroxygous translocations has been analyzed. All of the translocations (eleven) between two of the four longer chromosomes did not show sex-linked inheritance, thus demonstrating the autosomal character of the chromosomes nos 1, 2, 3 and 4. The same is true for the translocation T6 (2/6). Therefore the small heterochromatic chromosome no. 6, corresponding to the morphlogically differentiated six chromosomes within the amphogenic calliphorid species, remains without sex determining function in the monogenic fly. This could be confirmed by the analysis of monosomic (monosomy-6) and trisomic (trisomy-6) individuals, which resulted from meiotic non-disfunction in T6/+ translocation heterozygotes. Contrary to these translocations, the heteroxygous 5/2 translocation (T14) exhibited sex-linked inheritance: There was but a very low frequency (0,76 per cent) of recombinants resulting from crossing-over between F'/f and the translocation breakage point in theylgenic F1 T14/+females. The sex-linked inheritance of T14 was confirmed by the progeny of a thelygenic F1 T14/+ female crossed to a homozygous T14/T14 translocation male.Among the offspring of that F1 T14/+ female, which had received the

Race/Ethnicity, Educational Attainment, and Foregone Health Care in the United States in the 2007–2009 Recession

Science.gov (United States)

Hawkins, Jaclynn M.

2014-01-01

Objectives. This study assessed possible associations between recessions and changes in the magnitude of social disparities in foregone health care, building on previous studies that have linked recessions to lowered health care use. Methods. Data from the 2006 to 2010 waves of the National Health Interview Study were used to examine levels of foregone medical, dental and mental health care and prescribed medications. Differences by race/ethnicity and education were compared before the Great Recession of 2007 to 2009, during the early recession, and later in the recession and in its immediate wake. Results. Foregone care rose for working-aged adults overall in the 2 recessionary periods compared with the pre-recession. For multiple types of pre-recession care, foregoing care was more common for African Americans and Hispanics and less common for Asian Americans than for Whites. Less-educated individuals were more likely to forego all types of care pre-recession. Most disparities in foregone care were stable during the recession, though the African American–White gap in foregone medical care increased, as did the Hispanic–White gap and education gap in foregone dental care. Conclusions. Our findings support the fundamental cause hypothesis, as even during a recession in which more advantaged groups may have had unusually high risk of losing financial assets and employer-provided health insurance, they maintained their relative advantage in access to health care. Attention to the macroeconomic context of social disparities in health care use is warranted. PMID:24328647

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development.

Science.gov (United States)

Bramble, Matthew S; Lipson, Allen; Vashist, Neerja; Vilain, Eric

2017-01-02

Sex differences in brain development and postnatal behavior are determined largely by genetic sex and in utero gonadal hormone secretions. In humans however, determining the weight that each of these factors contributes remains a challenge because social influences should also be considered. Cases of disorders of sex development (DSD) provide unique insight into how mutations in genes responsible for gonadal formation can perturb the subsequent developmental hormonal milieu and elicit changes in normal human brain maturation. Specific forms of DSDs such as complete androgen insensitivity syndrome (CAIS), congenital adrenal hyperplasia (CAH), and 5α-reductase deficiency syndrome have variable effects between males and females, and the developmental outcomes of such conditions are largely dependent on sex chromosome composition. Medical and psychological works focused on CAH, CAIS, and 5α-reductase deficiency have helped form the foundation for understanding the roles of genetic and hormonal factors necessary for guiding human brain development. Here we highlight how the three aforementioned DSDs contribute to brain and behavioral phenotypes that can uniquely affect 46,XY and 46,XX individuals in dramatically different fashions. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

The Influence of Media Suggestions about Links between Criminality and Autism Spectrum Disorder

Science.gov (United States)

Brewer, Neil; Zoanetti, Jordana; Young, Robyn L.

2017-01-01

We examined whether media reports linking criminal behaviour and autism spectrum disorder foster negative attitudes towards individuals with autism spectrum disorder. In a between-subjects design, participants were exposed to (a) a media story in which a murderer was labelled with autism spectrum disorder (media exposure condition) or not labelled…

Sex differences in rates of obesity in bipolar disorder: postulated mechanisms.

Science.gov (United States)

Baskaran, Anusha; Cha, Danielle S; Powell, Alissa M; Jalil, Dalya; McIntyre, Roger S

2014-02-01

The increased standardized mortality ratio (SMR) from cardiovascular disease (CVD) in women with bipolar disorder (BD), relative to men with BD and individuals of both sexes in the general population, provides the impetus to identify factors that contribute to the differential association of obesity with BD in women. We conducted a selective PubMed search of English-language articles published from September 1990 to June 2012. The key search terms were bipolar disorder and metabolic syndrome cross-referenced with gender, sex, obesity, diabetes mellitus, hypertension, and dyslipidemia. The search was supplemented with a manual review of relevant article reference lists. Articles selected for review were based on author consensus, the use of a standardized experimental procedure, validated assessment measures, and overall manuscript quality. It is amply documented that adults with BD are affected by the metabolic syndrome at a rate higher than the general population. Women with BD, when compared to men with BD and individuals of both sexes in the general population, have higher rates of abdominal obesity. The course and clinical presentation of BD manifest differently in men and women, wherein women exhibit a higher frequency of depression predominant illness, a later onset of BD, more seasonal variations in mood disturbance, and increased susceptibility to relapse. Phenomenological factors can be expanded to include differences in patterns of comorbidity between the sexes among patients with BD. Other factors that contribute to the increased risk for abdominal obesity in female individuals with BD include reproductive life events, anamnestic (e.g., sexual and/or physical abuse), lifestyle, and iatrogenic. A confluence of factors broadly categorized as broad- and sex-based subserve the increased rate of obesity in women with BD. It remains a testable hypothesis that the increased abdominal obesity in women with BD mediates the increased SMR from CVD. A clinical

One and a half million medical papers reveal a link between author gender and attention to gender and sex analysis

DEFF Research Database (Denmark)

Nielsen, Mathias Wullum; Andersen, Jens Peter; Schiebinger, Londa

2017-01-01

Gender and sex analysis is increasingly recognized as a key factor in creating better medical research and health care. Using a sample of more than 1.5 million medical research papers, our study examined the potential link between women’s participation in medical science and attention to gender......-related and sex-related factors in disease-specific research. Adjusting for variations across countries, disease topics and medical research areas, we compared the participation of women authors in studies that do and do not involve gender and sex analysis. Overall, our results show a robust positive correlation...... between women’s authorship and the likelihood of a study including gender and sex analysis. These findings corroborate discussions of how women’s participation in medical science links to research outcomes, and show the mutual benefits of promoting both the scientific advancement of women...

The Great Recession was not so Great

NARCIS (Netherlands)

van Ours, J.C.

2015-01-01

The Great Recession is characterized by a GDP-decline that was unprecedented in the past decades. This paper discusses the implications of the Great Recession analyzing labor market data from 20 OECD countries. Comparing the Great Recession with the 1980s recession it is concluded that there is a

Gene Linked to Excess Male Hormones in Female Infertility Disorder

Science.gov (United States)

... April 15, 2014 Gene linked to excess male hormones in female infertility disorder Discovery by NIH-supported ... may lead to the overproduction of androgens — male hormones similar to testosterone — occurring in women with polycystic ...

Sex-Linked Mating Strategies Diverge with a Manipulation of Genital Salience.

Science.gov (United States)

Fetterman, Adam K; Kruger, Nicole N; Robinson, Michael D

2015-02-01

Trivers (1972) proposed that evolutionary factors should favor divergent mating strategies for males versus females. Such differences may be less pronounced among human beings than other animals and social norms and sex roles are also pertinent influences. The present experiment ( N = 133 college undergraduates, 74 female) sought to bypass some of these other influences. Participants were randomly assigned to a condition designed to increase attention to the genital region (a downward pointing arrow) or not (an upward pointing arrow). They then reported on their interest in short-term (e.g., a one-night stand) and long-term (e.g., a potential marital partner) mating opportunities. A theory-consistent three-way interaction occurred such that the genital salience manipulation primed a shorter-term reproductive strategy among men and a longer-term reproductive strategy among women. The results provide unique support for evolution-linked ideas about sex differences in the form of a role for bodily attention.

Sex Differences in the Prevalence of Oppositional Defiant Disorder During Middle Childhood: a Meta-Analysis.

Science.gov (United States)

Demmer, David H; Hooley, Merrilyn; Sheen, Jade; McGillivray, Jane A; Lum, Jarrad A G

2017-02-01

This review provides a meta-analysed male:female prevalence ratio of oppositional defiant disorder (ODD) during middle childhood in non-referred children. It also analyses sex differences in prevalence across cultures and over time. A systematic search for studies via the following sources was conducted: PsycInfo, Web of Knowledge, Medline Complete, Scopus, EMBASE, InfoRMIT, Psychological and Behavioural Sciences Collection, Cochrane Library, PubMed and ProQuest Health. The studies presented in two previous systematic reviews were also added to the search results. Inclusion/exclusion criteria were then applied and final studies were appraised for their methodological quality. Nineteen independent effect sizes met full inclusion criteria (aggregated sample N = 44,107). Overall, the prevalence of ODD was significantly higher in boys than girls (RR = 1.59, 95 % CI [1.36, 1.86], p  0.05). Sex differences in prevalence were significant in studies published prior to and post the year 2000 (RR = 1.57, 95 % CI [1.22, 2.02], p  0.05). The sex differences in ODD prevalence are discussed within the context of (i) predominant theories of sex differences in externalising behaviours, and (ii) departure from the sex-differences pattern found for other disruptive behavioural disorders.

Attention deficit hyperactivity disorder and arrest history: Differential association of clinical characteristics by sex.

Science.gov (United States)

Kolla, Nathan J; van der Maas, Mark; Erickson, Patricia G; Mann, Robert E; Seeley, Jane; Vingilis, Evelyn

Attention deficit hyperactivity disorder (ADHD) is often cited as a risk factor for criminality. However, many studies do not take other criminogenic variables into account when reporting on this relationship. It is even less clear whether models that include ADHD as a potential risk factor for criminality consider the importance of sex differences. To answer this question, we collected data from a telephone population survey sampling adults over the age of 18 years in the province of Ontario, Canada (final sample size = 5196). Respondents were screened for ADHD using the Adult ADHD Self-Report Version 1.1 Screener (ASRS-V1.1) and four extra items. Problematic drinking was assessed using the Alcohol Use Disorders Identification Test (AUDIT), while cannabis misuse was evaluated using the Alcohol, Smoking and Substance Involvement Screening Test (ASSIST). The Antisocial Personality Disorder Scale from the Mini-International Neuropsychiatric Interview provided a measure of previous conduct disorder symptoms and the 12-item General Health Questionnaire screening procedure was used to gauge general distress. History of arrest was self-reported. Three separate logistic regression analyses (entire sample, male only, and female only) were applied to estimate the association of the foregoing variables with arrest history. In the combined sample, conduct disorder symptoms, problem alcohol use, and problem cannabis use all predicted history of arrest. With regard to the male sample, conduct disorder symptoms, elevated AUDIT and ASSIST scores, and general distress were associated with an arrest history. For the female subsample, only conduct disorder symptoms and problematic cannabis use showed a relationship with criminality. To summarize, ADHD did not predict history of arrest for either subsample or the combined sample. When comparing males and females, conduct disorder symptoms and cannabis misuse exerted stronger effects on history of arrest for females than males

Sex differences of gray matter morphology in cortico-limbic-striatal neural system in major depressive disorder.

Science.gov (United States)

Kong, Lingtao; Chen, Kaiyuan; Womer, Fay; Jiang, Wenyan; Luo, Xingguang; Driesen, Naomi; Liu, Jie; Blumberg, Hilary; Tang, Yanqing; Xu, Ke; Wang, Fei

2013-06-01

Sex differences are observed in both epidemiological and clinical aspects of major depressive disorder (MDD). The cortico-limbic-striatal neural system, including the prefrontal cortex, amygdala, hippocampus, and striatum, have shown sexually dimorphic morphological features and have been implicated in the dysfunctional regulation of mood and emotion in MDD. In this study, we utilized a whole-brain, voxel-based approach to examine sex differences in the regional distribution of gray matter (GM) morphological abnormalities in medication-naïve participants with MDD. Participants included 29 medication-naïve individuals with MDD (16 females and 13 males) and 33 healthy controls (HC) (17 females and 16 males). Gray matter morphology of the cortico-limbic-striatal neural system was examined using voxel-based morphometry analyzes of high-resolution structural magnetic resonance imaging scans. The main effect of diagnosis and interaction effect of diagnosis by sex on GM morphology were statistically significant (p sex-related patterns of abnormalities within the cortico-limbic-strial neural system, such as predominant prefrontal-limbic abnormalities in MDD females vs. predominant prefrontal-striatal abnormalities in MDD males, suggest differences in neural circuitry that may mediate sex differences in the clinical presentation of MDD and potential targets for sex-differentiated treatment of the disorder. Copyright © 2013 Elsevier Ltd. All rights reserved.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Science.gov (United States)

Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

2015-04-01

SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Preliminary Evidence for an Automatic Link between Sex and Power among Men Who Molest Children

Science.gov (United States)

Kamphuis, Jan H.; De Ruiter, Corine; Janssen, Bas; Spiering, Mark

2005-01-01

Understanding critical motivational processes of sexual offenders may ultimately provide important clues to more effective treatments. Implicit, automatic cognitive processes have received minimal attention; however, a lexical decision experiment revealed automatic links between the concepts of power and sex among participants who self-reported…

Do Economic Recessions During Early and Mid-Adulthood Influence Cognitive Function in Older Age?

Science.gov (United States)

Leist, Anja K.; Hessel, Philipp; Avendano, Mauricio

2014-01-01

Background Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Method Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/5 and 2006/7 were linked to complete work histories retrospectively collected in 2008/9, and to historical annual data on fluctuations in Gross Domestic Product (GDP) per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Results Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b = -0.06, Confidence Interval [CI] -0.11, -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34 = -0.03, CI -0.04, -0.01; b35-44= -0.02, CI -0.04, -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Conclusions Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly via more unfavourable labour market trajectories. If replicated in future studies, findings may indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function. PMID:24258197

Do economic recessions during early and mid-adulthood influence cognitive function in older age?

Science.gov (United States)

Leist, Anja K; Hessel, Philipp; Avendano, Mauricio

2014-02-01

Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/2005 and 2006/2007 were linked to complete work histories retrospectively collected in 2008/2009 and to historical annual data on fluctuations in Gross Domestic Product per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b=-0.06, CI -0.11 to -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34=-0.03, CI -0.04 to -0.01; b35-44=-0.02, CI -0.04 to -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly through more unfavourable labour market trajectories. If replicated in future studies, findings indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Science.gov (United States)

Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

2017-12-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

Gender identity outcomes in children with disorders/differences of sex development: Predictive factors.

Science.gov (United States)

Bakula, Dana M; Mullins, Alexandria J; Sharkey, Christina M; Wolfe-Christensen, Cortney; Mullins, Larry L; Wisniewski, Amy B

2017-06-01

Disorders/differences of sex development (DSD) comprise multiple congenital conditions in which chromosomal, gonadal, and/or anatomical sex are discordant. The prediction of future gender identity (i.e., self-identifying as male, female, or other) in children with DSD can be imprecise, and current knowledge about the development of gender identity in people with, and without DSD, is limited. However, sex of rearing is the strongest predictor of gender identity for the majority of individuals with various DSD conditions. When making decisions regarding sex of rearing biological factors (e.g., possession of a Y chromosome, degree and duration of pre- and postnatal androgen exposure, phenotypic presentation of the external genitalia, and fertility potential), social and cultural factors, as well as quality of life should be considered. Information on gender identity outcomes across a range of DSD diagnoses is presented to aid in sex of rearing assignment. Copyright © 2017 Elsevier Inc. All rights reserved.

Neurologic complications of disorders of the adrenal glands.

Science.gov (United States)

Bertorini, Tulio E; Perez, Angel

2014-01-01

Disorders of the adrenal glands frequently have secondary neurological manifestations, while some diseases that involve the central nervous system are accompanied by adrenal gland dysfunction. Excessive corticosteroid secretions in primary or secondary Cushing's syndrome causes muscle weakness and behavioral disturbances, such as emotional lability and sometimes depression, while adrenal insufficiency may cause fatigue, weakness, and depression. Adrenoleukodystrophy and adrenoneuromyelopathy are X-linked recessive disorders of the metabolism of very long chain fatty acids that manifest with white matter abnormalities of the brain, myelopathy and/or neuropathy, as well as adrenal insufficiency. Other disorders of the adrenal glands include hyperaldosteroidism, which may cause weakness from hypokalemia. Dysfunction of the adrenal medulla causes excessive or deficient secretion of catecholamines, primarily causing cardiovascular symptoms. This chapter reviews the clinical manifestations and diagnostic aspects and treatment of the various disorders of the adrenal glands. Some of the congenital adrenal diseases are also discussed. © 2014 Elsevier B.V. All rights reserved.

Gender identity and gender role orientation in female assigned patients with disorders of sex development.

Science.gov (United States)

Mattila, Aino K; Fagerholm, Riitta; Santtila, Pekka; Miettinen, Päivi J; Taskinen, Seppo

2012-11-01

Gender identity and gender role orientation were assessed in 24 female assigned patients with disorders of sex development. A total of 16 patients were prenatally exposed to androgens, of whom 15 had congenital adrenal hyperplasia and 1 was virilized due to maternal tumor. Eight patients had 46,XY karyotype, of whom 5 had partial and 3 had complete androgen insensitivity syndrome. Gender identity was measured by the 27-item Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults with 167 female medical students as controls, and gender role was assessed by the femininity and masculinity subscales of the 30-item Bem Sex Role Inventory with 104 female and 64 male medical students as controls. No patient reached the cutoff for gender identity disorder on the Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. However, patients with 46,XY karyotype demonstrated a somewhat more conflicted gender identity, although the overall differences were relatively small. As to gender role orientation, patients with complete androgen insensitivity syndrome had high scores on the femininity and masculinity scales of the Bem Sex Role Inventory, which made them the most androgynous group. Our findings, although clinically not clear cut, suggest that patients with disorders of sex development are a heterogeneous group regarding gender identity and gender role outcomes, and that this issue should be discussed with the family when treatment plans are made. Copyright © 2012 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Link prediction boosted psychiatry disorder classification for functional connectivity network

Science.gov (United States)

Li, Weiwei; Mei, Xue; Wang, Hao; Zhou, Yu; Huang, Jiashuang

2017-02-01

Functional connectivity network (FCN) is an effective tool in psychiatry disorders classification, and represents cross-correlation of the regional blood oxygenation level dependent signal. However, FCN is often incomplete for suffering from missing and spurious edges. To accurate classify psychiatry disorders and health control with the incomplete FCN, we first `repair' the FCN with link prediction, and then exact the clustering coefficients as features to build a weak classifier for every FCN. Finally, we apply a boosting algorithm to combine these weak classifiers for improving classification accuracy. Our method tested by three datasets of psychiatry disorder, including Alzheimer's Disease, Schizophrenia and Attention Deficit Hyperactivity Disorder. The experimental results show our method not only significantly improves the classification accuracy, but also efficiently reconstructs the incomplete FCN.

Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.

Science.gov (United States)

Matute, Daniel R; Gavin-Smyth, Jackie

2014-04-01

Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.

Objectively assessed recess physical activity in girls and boys from high and low socioeconomic backgrounds.

Science.gov (United States)

Baquet, Georges; Ridgers, Nicola D; Blaes, Aurélie; Aucouturier, Julien; Van Praagh, Emmanuel; Berthoin, Serge

2014-02-21

The school environment influences children's opportunities for physical activity participation. The aim of the present study was to assess objectively measured school recess physical activity in children from high and low socioeconomic backgrounds. Four hundred and seven children (6-11 years old) from 4 primary schools located in high socioeconomic status (high-SES) and low socioeconomic status (low-SES) areas participated in the study. Children's physical activity was measured using accelerometry during morning and afternoon recess during a 4-day school week. The percentage of time spent in light, moderate, vigorous, very high and in moderate- to very high-intensity physical activity were calculated using age-dependent cut-points. Sedentary time was defined as 100 counts per minute. Boys were significantly (p active than girls. No difference in sedentary time between socioeconomic backgrounds was observed. The low-SES group spent significantly more time in light (p physical activity compared to the high-SES group. High-SES boys and girls spent significantly more time in moderate (p physical activity than low-SES boys. Differences were observed in recess physical activity levels according to socioeconomic background and sex. These results indicate that recess interventions should target children in low-SES schools.

Results from a pediatric surgical centre justify early intervention in disorders of sex development.

Science.gov (United States)

Crawford, Jennifer M; Warne, Garry; Grover, Sonia; Southwell, Bridget R; Hutson, John M

2009-02-01

Controversy persists surrounding early management of disorders of sex development. We assessed genital appearance, gender identity, and quality of life in prepubertal children who have had early surgical intervention. Children treated for disorders of sex development who were 5 to 10 years of age were eligible (n = 54). Children were scored (modified Creighton scale) for anatomical and cosmetic outcome, and both patients and parents completed PedsQL quality-of-life and gender identity questionnaires, with ethics approval. Of 54 patients, 41 presented for review. Treatment began at 13.2 (1.8-250.1) months (median; range) and were reviewed at 7.5 +/- 2.1 (mean +/- SD) years of age. Nineteen were raised as girls and 22 as boys. Girls had good (85%) or satisfactory (15%) anatomical/cosmetic outcome, whereas 52% boys had good, 38% satisfactory, and 10% poor cosmetic outcomes. On gender identity questionnaire, boys scored 3.9 +/- 0.4 (mean +/- SD) and girls 3.6 +/- 0.5; 1 of 19 boys and 3 of 19 girls had lower scores, suggesting risk of gender identity disorder. Quality-of-life scores were 80+ for physical and 65 to 80 for psychosocial scores. Early intervention is generally associated with positive outcomes for patients and parents. Girls had better anatomical outcomes than boys, and gender dysphoria risks were low in both sexes.

Sex-linked pheromone receptor genes of the European corn borer, Ostrinia nubilalis, are in tandem arrays.

Directory of Open Access Journals (Sweden)

Yuji Yasukochi

Full Text Available BACKGROUND: Tuning of the olfactory system of male moths to conspecific female sex pheromones is crucial for correct species recognition; however, little is known about the genetic changes that drive speciation in this system. Moths of the genus Ostrinia are good models to elucidate this question, since significant differences in pheromone blends are observed within and among species. Odorant receptors (ORs play a critical role in recognition of female sex pheromones; eight types of OR genes expressed in male antennae were previously reported in Ostrinia moths. METHODOLOGY/PRINCIPAL FINDINGS: We screened an O. nubilalis bacterial artificial chromosome (BAC library by PCR, and constructed three contigs from isolated clones containing the reported OR genes. Fluorescence in situ hybridization (FISH analysis using these clones as probes demonstrated that the largest contig, which contained eight OR genes, was located on the Z chromosome; two others harboring two and one OR genes were found on two autosomes. Sequence determination of BAC clones revealed the Z-linked OR genes were closely related and tandemly arrayed; moreover, four of them shared 181-bp direct repeats spanning exon 7 and intron 7. CONCLUSIONS/SIGNIFICANCE: This is the first report of tandemly arrayed sex pheromone receptor genes in Lepidoptera. The localization of an OR gene cluster on the Z chromosome agrees with previous findings for a Z-linked locus responsible for O. nubilalis male behavioral response to sex pheromone. The 181-bp direct repeats might enhance gene duplications by unequal crossovers. An autosomal locus responsible for male response to sex pheromone in Heliothis virescens and H. subflexa was recently reported to contain at least four OR genes. Taken together, these findings support the hypothesis that generation of additional copies of OR genes can increase the potential for male moths to acquire altered specificity for pheromone components, and accordingly

Current models of care for disorders of sex development

DEFF Research Database (Denmark)

Kyriakou, Andreas; Dessens, Arianne; Bryce, Jillian

2016-01-01

BACKGROUND: To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. RESULTS: A total...... by 14 (19 %) centres. In addition to complex biochemistry and molecular genetic investigations, 40 clinicians (51 %) also had access to next generation sequencing. A genetic test was reported to be more preferable than biochemical tests for diagnosing 5-alpha reductase deficiency and 17-beta...

Differential Impairment as an Indicator of Sex Bias in DSM-IV Criteria for Four Personality Disorders

Science.gov (United States)

Boggs, Christina D.; Morey, Leslie C.; Skodol, Andrew E.; Shea, M. Tracie; Sanislow, Charles A.; Grilo, Carlos M.; McGlashan, Thomas H.; Zanarini, Mary C.; Gunderson, John G.

2005-01-01

The aim of the present study was to investigate the possibility of sex bias in the diagnostic criteria for borderline, schizotypal, avoidant, and obsessive-compulsive personality disorders. A clinical sample of 668 individuals was evaluated for personality disorder criteria using a semistructured interview, and areas of functional impairment were…

Does MRI add to ultrasound in the assessment of disorders of sex development?

Energy Technology Data Exchange (ETDEWEB)

Mansour, S.M., E-mail: sahar_mnsr@yahoo.com [Radiology Department (Women' s imaging unit), Faculty of Medicine, Cairo University,Egypt (Egypt); Hamed, S.T., E-mail: sohathamed@yahoo.com [Radiology Department (Women' s imaging unit), Faculty of Medicine, Cairo University,Egypt (Egypt); Adel, L., E-mail: lamiaadel73@yahoo.com [Radiology Department (Women' s imaging unit), Faculty of Medicine, Cairo University,Egypt (Egypt); Kamal, R.M., E-mail: rashaakamal@hotmail.com [Radiology Department (Women' s imaging unit), Faculty of Medicine, Cairo University,Egypt (Egypt); Ahmed, D.M., E-mail: sahar_mnsr@yahoo.com [National Research Center, Cairo (Egypt)

2012-09-15

Objective: The objective of the study was to evaluate the need of magnetic resonance imaging and using different approaches (transabdominal, endoluminal and transperineal) in the proper assessment of disorders of sex development regarding gonadal detection and gender differentiation. Subjects and methods: Twenty five patients with abnormalities of sex disorders were included. They were classified into two groups according to the time of clinical presentation: Group 1 (early onset) included eight cases. Their age ranged from one month to 12 years (mean age = 3.0). They presented with overt genital ambiguity of clitoral hypertrophy in a phenotypic female, non palpable testes or micropenis in a phenotypic male. Group 2 (late onset) included 17 cases. Their age ranged from 16 to 33 years (mean age 18.1). This group presented by distressing puberty symptoms of primary amenorrhea in a female phenotype or undescended testis and behaving as a male. Cases were subjected to Ultrasound and MR imaging examinations. Imaging results were correlated results of chromosomal and hormonal assays as well as laparoscopy findings. Results: The study included: 10/25 cases (40%) of female pseudo-hermaphroditism, 13/25 cases (52%) of male pseudo-hermaphroditism, one case (4%) of true hermaphroditism and one case (4%) of pure gonadal dysgenesis. The accuracy of multi approach ultrasound was 89.8% compared to 85.7% in MR imaging. Conclusion: Ultrasound should be considered the initial screening modality in the assessment of developmental sex disorders. MRI examination could be reserved for gonad identification when ultrasound examination fails to do so and for corrective surgery guidance.

Does MRI add to ultrasound in the assessment of disorders of sex development?

International Nuclear Information System (INIS)

Mansour, S.M.; Hamed, S.T.; Adel, L.; Kamal, R.M.; Ahmed, D.M.

2012-01-01

Objective: The objective of the study was to evaluate the need of magnetic resonance imaging and using different approaches (transabdominal, endoluminal and transperineal) in the proper assessment of disorders of sex development regarding gonadal detection and gender differentiation. Subjects and methods: Twenty five patients with abnormalities of sex disorders were included. They were classified into two groups according to the time of clinical presentation: Group 1 (early onset) included eight cases. Their age ranged from one month to 12 years (mean age = 3.0). They presented with overt genital ambiguity of clitoral hypertrophy in a phenotypic female, non palpable testes or micropenis in a phenotypic male. Group 2 (late onset) included 17 cases. Their age ranged from 16 to 33 years (mean age 18.1). This group presented by distressing puberty symptoms of primary amenorrhea in a female phenotype or undescended testis and behaving as a male. Cases were subjected to Ultrasound and MR imaging examinations. Imaging results were correlated results of chromosomal and hormonal assays as well as laparoscopy findings. Results: The study included: 10/25 cases (40%) of female pseudo-hermaphroditism, 13/25 cases (52%) of male pseudo-hermaphroditism, one case (4%) of true hermaphroditism and one case (4%) of pure gonadal dysgenesis. The accuracy of multi approach ultrasound was 89.8% compared to 85.7% in MR imaging. Conclusion: Ultrasound should be considered the initial screening modality in the assessment of developmental sex disorders. MRI examination could be reserved for gonad identification when ultrasound examination fails to do so and for corrective surgery guidance

Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.

Science.gov (United States)

McCann, Marcia V; Pongonis, Stephen J; Golomb, Meredith R; Edwards-Brown, Mary; Christensen, Celanie K; Sokol, Deborah K

2008-08-01

Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual-spatial learning deficits, consistent with nonverbal learning disability.

Sex Distribution and Psychiatric Features of Child and Adolescent Conversion Disorder Across 2 Decades

Directory of Open Access Journals (Sweden)

Kai-Lin Huang

2009-09-01

Conclusion: The sex distribution in conversion disorder might have significantly changed over the past 2 decades. There is an increasing need for screening and interventions for psychiatric comorbidity and experiences of being abused in children and adolescents with conversion disorder. Because of the small sample size of our study, further studies that include multiple study sites and a larger number of patients are needed before a firm conclusion can be drawn.

Sex differences in prevalence and comorbidity of alcohol and drug use disorders: results from wave 2 of the National Epidemiologic Survey on Alcohol and Related Conditions.

Science.gov (United States)

Goldstein, Risë B; Dawson, Deborah A; Chou, S Patricia; Grant, Bridget F

2012-11-01

The present study examined sex differences in lifetime Axis I and II psychiatric comorbidity of DSM-IV alcohol use disorders (AUDs) and drug use disorders (DUDs) among general population U.S. adults. Using data from Waves 1 and 2 of the National Epidemiologic Survey on Alcohol and Related Conditions, Wave 2 lifetime prevalences of each disorder comorbid with alcohol abuse, alcohol dependence, drug abuse, and drug dependence were compared between men and women. Sex-specific associations of alcohol, any drug, and cannabis- and cocaine-specific abuse and dependence with each comorbid disorder were examined using logistic regression, first with adjustment for sociodemographic variables and then with additional adjustment for all other psychiatric disorders. Prevalences of most comorbid disorders differed significantly by sex among respondents with each AUD and DUD. However, after adjustment for sociodemographic characteristics and additional co-occurring psychiatric diagnoses, there were few sex differences in unique comorbid associations of specific AUDs and DUDs with specific psychiatric disorders. Rates of psychiatric disorders comorbid with AUDs and DUDs indicate large burdens of morbidity in both sexes, highlighting the need for careful assessment and appropriate treatment of both substance use and mental health disorders. The unique comorbid associations with AUDs and DUDs identified in this study further indicate the need for prospective etiological research to characterize these associations, their underlying mechanisms, and the possible sex specificity of those mechanisms.

Diallel analysis for sex-linked and maternal effects.

Science.gov (United States)

Zhu, J; Weir, B S

1996-01-01

Genetic models including sex-linked and maternal effects as well as autosomal gene effects are described. Monte Carlo simulations were conducted to compare efficiencies of estimation by minimum norm quadratic unbiased estimation (MINQUE) and restricted maximum likelihood (REML) methods. MINQUE(1), which has 1 for all prior values, has a similar efficiency to MINQUE(θ), which requires prior estimates of parameter values. MINQUE(1) has the advantage over REML of unbiased estimation and convenient computation. An adjusted unbiased prediction (AUP) method is developed for predicting random genetic effects. AUP is desirable for its easy computation and unbiasedness of both mean and variance of predictors. The jackknife procedure is appropriate for estimating the sampling variances of estimated variances (or covariances) and of predicted genetic effects. A t-test based on jackknife variances is applicable for detecting significance of variation. Worked examples from mice and silkworm data are given in order to demonstrate variance and covariance estimation and genetic effect prediction.

Sex and gender differences in depression - proclivity in women

Directory of Open Access Journals (Sweden)

Ignacio Zarragoitía Alonso

2013-04-01

Full Text Available The article presents and analyzes the major factors involved in depression, taking into account those related to biological, psychological and social issues linked to sex and gender. Ultimately, these sex and gender-associated factors determine that the condition is present more often in women than in men, nearly doubling the cases. In addition, the article describes the singularities of depressive disorders in different reproductive periods when the disease acquires clinical specificity in accordance with sexual and hormonal functions. Finally, the way in which gender roles can intervene in how depression is approached in women vis-à-vis men is covered.

Profile of Egyptian Patients with Mucopolysaccharidosis | Shawky ...

African Journals Online (AJOL)

Background: Mucopolysaccharidoses (MPS) are chronic progressive lysosomal disorders (Six distinct types) which are inherited as autosomal recessive except MPS II which is inherited as X-linked recessive disorder. Patients and Methods: This study is designed to investigate a group of Egyptian patients with MPS ...

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Science.gov (United States)

Bichet, Daniel G; Bockenhauer, Detlef

2016-03-01

Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

Role of neuroinflammation and sex hormones in war-related PTSD.

Science.gov (United States)

Mendoza, Cristhian; Barreto, George E; Ávila-Rodriguez, Marco; Echeverria, Valentina

2016-10-15

The susceptibility to develop posttraumatic stress disorder (PTSD) is greatly influenced by both innate and environmental risk factors. One of these factors is gender, with women showing higher incidence of trauma-related mental health disorders than their male counterparts. The evidence so far links these differences in susceptibility or resilience to trauma to the neuroprotective actions of sex hormones in reducing neuroinflammation after severe stress exposure. In this review, we discuss the impact of war-related trauma on the incidence of PTSD in civilian and military populations as well as differences associated to gender in the incidence and recovery from PTSD. In addition, the mutually influencing role of inflammation, genetic, and sex hormones in modulating the consequences derived from exposure to traumatic events are discussed in light of current evidence. Published by Elsevier Ireland Ltd.

On the link between attention deficit/hyperactivity disorder and obesity: do comorbid oppositional defiant and conduct disorder matter?

Science.gov (United States)

Pauli-Pott, Ursula; Neidhard, John; Heinzel-Gutenbrunner, Monika; Becker, Katja

2014-07-01

The link between attention deficit/hyperactivity disorder (ADHD) and elevated body weight/obesity can be regarded as well established. Because oppositional defiant disorder (ODD)/conduct disorder (CD) has also been found to be associated with these characteristics and ADHD and ODD/CD often occur comorbidly, we investigated whether ODD/CD and ADHD are independently linked with body weight and obesity. The clinical records of 360 children, 257 (6-12 years) with diagnoses of ADHD, ODD/CD, or comorbid ADHD and ODD/CD and 103 children with adjustment disorder (as a control group) constituted the database. All children were seen for the first time in two outpatient psychiatric clinics. Associations of the psychiatric diagnoses (ADHD present vs. not present; ODD/CD present vs. not present) with the standard deviation scores (according to German reference data) of the child's body mass index (BMI-SDS) and presence of obesity were analyzed by ANCOVA and hierarchical logistic regression analysis, respectively. Children with ODD/CD showed higher BMI-SDS (F = 7.67, p < 0.006) and rate of obesity (Wald = 4.12, p < 0.05, OR = 2.43) while controlling for ADHD comorbidity. While adjusting for ODD/CD comorbidity, the links between ADHD and BMI-SDS or obesity did not reach statistical significance. Given a cross validation of these findings, future (preferably prospective longitudinal) research should analyze the mediating mechanism between the psychiatric conditions and obesity. This knowledge could be helpful for preventive interventions.

Objectively Measured Physical Activity During Physical Education and School Recess and Their Associations With Academic Performance in Youth: The UP&DOWN Study.

Science.gov (United States)

Esteban-Cornejo, Irene; Martinez-Gomez, David; Garcia-Cervantes, Laura; Ortega, Francisco B; Delgado-Alfonso, Alvaro; Castro-Piñero, José; Veiga, Oscar L

2017-04-01

This study examined the associations of objectively measured physical activity in Physical Education and recess with academic performance in youth. This cross-sectional study was conducted with 1,780 participants aged 6 to 18 years (863 girls). Physical activity was objectively measured by accelerometry and was also classified according to sex- and agespecific quartiles of physical activity intensities. Academic performance was assessed through school records. Physical activity in physical education (PE) and recess was not associated with academic performance (β ranging from -0.038 to -0.003; all P > .05). Youth in the lowest quartile of physical activity in PE engaged in an average of 1.40 min of moderate-to-vigorous physical activity and those in the highest quartile engaged in 21.60 min (for recess: lowest quartile, 2.20 min; highest quartile, 11.15 min). There were no differences in academic performance between quartiles of physical activity in Physical Education and recess. Time spent at different physical activity intensities during PE and recess does not impair academic performance in youth.

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

Science.gov (United States)

Kimberling, William J

2005-11-01

The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection is imperfect and mutations are often missed. This can be especially troublesome when dealing with a recessive disorder where the combination of genetic heterogeneity and missed mutation creates an imprecision in the genotypic assessment of individuals who do not appear to have the expected complement of two pathologic mutations. This article describes a statistical approach to the estimation of the likelihood of a genetic diagnosis under these conditions. In addition to providing a means of testing for missed mutations, it also provides a method of estimating and testing for the presence of genetic heterogeneity in the absence of linkage data. Gene frequencies as well as estimates of sensitivity and specificity can be obtained as well. The test is applied to GJB2 recessive nonsyndromic deafness, Usher syndrome types Ib and IIa, and Pendred-enlarged vestibular aqueduct syndrome. Copyright 2005 Wiley-Liss, Inc.

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

Science.gov (United States)

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

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

Stress-related disorders, pituitary adenylate cyclase-activating peptide (PACAP)ergic system, and sex differences.

Science.gov (United States)

Ramikie, Teniel S; Ressler, Kerry J

2016-12-01

Trauma-related disorders, such as posttraumatic stress disorder (PTSD) are remarkably common and debilitating, and are often characterized by dysregulated threat responses. Across numerous epidemiological studies, females have been found to have an approximately twofold increased risk for PTSD and other stress-related disorders. Understanding the biological mechanisms of this differential risk is of critical importance. Recent data suggest that the pituitary adenylate cyclase-activating polypeptide (PACAP) pathway is a critical regulator of the stress response across species. Moreover, increasing evidence suggests that this pathway is regulated by both stress and estrogen modulation and may provide an important window into understanding mechanisms of sex differences in the stress response. We have recently shown that PACAP and its receptor (PAC1R) are critical mediators of abnormal processes after psychological trauma. Notably, in heavily traumatized human subjects, there appears to be a robust sex-specific association of PACAP blood levels and PAC1R gene variants with fear physiology, PTSD diagnosis, and symptoms, specifically in females. The sex-specific association occurs within a single-nucleotide polymorphism (rs2267735) that resides in a putative estrogen response element involved in PAC1R gene regulation. Complementing these human data, the PAC1R messenger RNA is induced with fear conditioning or estrogen replacement in rodent models. These data suggest that perturbations in the PACAP-PAC1R pathway are regulated by estrogen and are involved in abnormal fear responses underlying PTSD.

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

Directory of Open Access Journals (Sweden)

Charles Marques Lourenço

2012-07-01

Full Text Available X-linked adrenoleukodystrophy (X-ALD is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

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

Science.gov (United States)

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

2012-01-01

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

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

DEFF Research Database (Denmark)

Lindhardt Johansen, Marie; Hagen, Casper P; Johannsen, Trine Holm

2013-01-01

Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay and conver......Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay...

The distribution of and complementation relationships between spontaneous X-linked recessive lethal mutations recovered from crossing long-term laboratory stocks of Drosophila melanogaster

International Nuclear Information System (INIS)

Schalet, A.P.

1986-01-01

Drosophila melanogaster males from a wild-type laboratory stock, were mated with virgin females of the M-6 stock, and 149 spontaneous independent non-mosaically transmitted, as well as 8 incidentally detected, mosaically transmitted, X-linked recessive lethal mutations were recovered from 95 704 F 2 cultures. 152 mutations were mapped over the entire length of the X-chromosome by complementation and/or crossover tests. Although there were far too few spontaneous mutations to make a meaningful comparison of relative mutability on a locus-by-locus basis, those loci displaying a relatively higher X-ray mutability, when taken as a group, tend to display a relatively higher spontaneous mutability, and those loci displaying a relatively lower X-ray mutability, when taken as a group, tend to display a relatively lower spontaneous mutability. (Auth.)

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Science.gov (United States)

Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

2011-02-01

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

CT evaluation of the anterior epitympanic recess

International Nuclear Information System (INIS)

Yamasoba, Tatsuya; Kikuchi, Shigeru; Takeuchi, Naonobu; Harada, Takehiko; Nomura, Yasuya

1991-01-01

The structures of the anterior epitympanic recess and its surrounding tissues were examined among non-inflammatory ear, chronic otitis media with central perforation and cholesteatoma, using axial scans of high resolution computed tomography. The length and width of the recess, as well as the number of the slices where the cog was determined, had no significant differences among them. Thus, the bony structure of the recess was considered to be seldom influenced by inflammatory processes. In the non-inflammatory ear, the degree of pneumatization around the recess was similar to that of the petrous apex cells and lower than that of the mastoid cells. In the chronic otitis media with central perforation and cholesteatoma, the pneumatization of the whole temporal bones was suppressed and the tendency was also found that the cells around the recess were less pneumatized than the mastoid cells. When cholesteatoma invaded into the anterior epitympanic recess, the destruction of the bony protrusion of the lateral wall between the recess and the epitympanum was recognized, as well as the disappearance of the cog. The bony protrusion was considered to be an inferior extention of the cog toward the anterior tympanic spine. (author)

Sex Differences and Correlates of Pain in Patients with Comorbid Obesity and Binge Eating Disorder

OpenAIRE

Masheb, Robin M.; White, Marney A.; Grilo, Carlos M.

2016-01-01

Sex differences and correlates of pain were examined in a sample of patients with comorbid binge eating disorder (BED) and obesity. One hundred fifty-two treatment-seeking patients with BED completed the Brief Pain Inventory. Analysis of covariance was utilized to compare women and men on pain, and correlational analysis, overall and by sex, was performed to examine relationships among pain, eating behaviour and metabolic risk factors. Women reported significantly greater pain severity and pa...

Demographic features and premorbid personality disorder traits in relation to age of onset and sex in paranoid schizophrenia.

Science.gov (United States)

Skokou, Maria; Gourzis, Philippos

2014-03-30

Personality disorders in the premorbid period of schizophrenia and particularly in relation to age of onset and sex, seem to be a rather under-researched area. In the present study, 88 patients with paranoid schizophrenia were examined, regarding demographic characteristics and premorbid personality disorder traits, in order to investigate for differences in the premorbid period of the disease, in relation to age of onset and sex. Age cutoff points were set at personality disorder traits were retrospectively assessed by using the Structured Clinical Interview for DSM-IV-Patient Edition for Axis II disorders (SCID-II). Comparisons were performed by applying the two-tailed Wilcoxon rank-sum and the χ(2) statistical tests. Young onset patients were characterized by significantly higher proportion of urban birth, single status, more avoidant premorbid personality disorder traits, and less passive-aggressive premorbid personality disorder traits, than late onset counterparts. Differences were more prominently shown in men. Earlier age of onset seems to be associated to increased social inhibition and worse psychosocial adaptation in the premorbid period of paranoid schizophrenia. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

The Impact of Sex Differences on Odor Identification and Facial Affect Recognition in Patients with Schizophrenia Spectrum Disorders.

Science.gov (United States)

Mossaheb, Nilufar; Kaufmann, Rainer M; Schlögelhofer, Monika; Aninilkumparambil, Thushara; Himmelbauer, Claudia; Gold, Anna; Zehetmayer, Sonja; Hoffmann, Holger; Traue, Harald C; Aschauer, Harald

2018-01-01

Social interactive functions such as facial emotion recognition and smell identification have been shown to differ between women and men. However, little is known about how these differences are mirrored in patients with schizophrenia and how these abilities interact with each other and with other clinical variables in patients vs. healthy controls. Standardized instruments were used to assess facial emotion recognition [Facially Expressed Emotion Labelling (FEEL)] and smell identification [University of Pennsylvania Smell Identification Test (UPSIT)] in 51 patients with schizophrenia spectrum disorders and 79 healthy controls; furthermore, working memory functions and clinical variables were assessed. In both the univariate and the multivariate results, illness showed a significant influence on UPSIT and FEEL. The inclusion of age and working memory in the MANOVA resulted in a differential effect with sex and working memory as remaining significant factors. Duration of illness was correlated with both emotion recognition and smell identification in men only, whereas immediate general psychopathology and negative symptoms were associated with emotion recognition only in women. Being affected by schizophrenia spectrum disorder impacts one's ability to correctly recognize facial affects and identify odors. Converging evidence suggests a link between the investigated basic and social cognitive abilities in patients with schizophrenia spectrum disorders with a strong contribution of working memory and differential effects of modulators in women vs. men.

The Impact of Sex Differences on Odor Identification and Facial Affect Recognition in Patients with Schizophrenia Spectrum Disorders

Directory of Open Access Journals (Sweden)

Nilufar Mossaheb

2018-01-01

Full Text Available BackgroundSocial interactive functions such as facial emotion recognition and smell identification have been shown to differ between women and men. However, little is known about how these differences are mirrored in patients with schizophrenia and how these abilities interact with each other and with other clinical variables in patients vs. healthy controls.MethodsStandardized instruments were used to assess facial emotion recognition [Facially Expressed Emotion Labelling (FEEL] and smell identification [University of Pennsylvania Smell Identification Test (UPSIT] in 51 patients with schizophrenia spectrum disorders and 79 healthy controls; furthermore, working memory functions and clinical variables were assessed.ResultsIn both the univariate and the multivariate results, illness showed a significant influence on UPSIT and FEEL. The inclusion of age and working memory in the MANOVA resulted in a differential effect with sex and working memory as remaining significant factors. Duration of illness was correlated with both emotion recognition and smell identification in men only, whereas immediate general psychopathology and negative symptoms were associated with emotion recognition only in women.ConclusionBeing affected by schizophrenia spectrum disorder impacts one’s ability to correctly recognize facial affects and identify odors. Converging evidence suggests a link between the investigated basic and social cognitive abilities in patients with schizophrenia spectrum disorders with a strong contribution of working memory and differential effects of modulators in women vs. men.

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

Science.gov (United States)

Okamoto, Nana; Kohmoto, Tomohiro; Naruto, Takuya; Masuda, Kiyoshi; Komori, Takahide; Imoto, Issei

2017-01-01

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.

Disorders of sex development: a new definition and classification.

Science.gov (United States)

Hughes, Ieuan A

2008-02-01

A newborn infant with ambiguous genitalia is a complex enough problem to unravel without any further clouding by confusing terms. The nomenclature 'intersex', 'hermaphrodite' and 'pseudohermaphrodite' is anachronistic, unhelpful, and perceived to be pejorative by some affected families. In its place, a consensus statement recommends the term 'disorder of sex development' (DSD), a generic definition encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix to define the category of DSD, replacing the arcane terminology of male or female pseudohermaphroditism (now known as XY DSD or XX DSD, respectively). The new nomenclature has spawned a simple and logical classification of the causes of DSD. In this chapter new facets of gonadal dysgenesis and novel defects in steroid biosynthesis are reviewed in relation to the DSD classification, and options for early, non-invasive fetal sexing are described. Future research to determine many causes of DSD will benefit from the use of this universal language of scientific communication.

Sex differences in gut microbiota in patients with major depressive disorder.

Science.gov (United States)

Chen, Jian-Jun; Zheng, Peng; Liu, Yi-Yun; Zhong, Xiao-Gang; Wang, Hai-Yang; Guo, Yu-Jie; Xie, Peng

2018-01-01

Our previous studies found that disturbances in gut microbiota might have a causative role in the onset of major depressive disorder (MDD). The aim of this study was to investigate whether there were sex differences in gut microbiota in patients with MDD. First-episode drug-naïve MDD patients and healthy controls were included. 16S rRNA gene sequences extracted from the fecal samples of the included subjects were analyzed. Principal-coordinate analysis and partial least squares-discriminant analysis were used to assess whether there were sex-specific gut microbiota. A random forest algorithm was used to identify the differential operational taxonomic units. Linear discriminant-analysis effect size was further used to identify the dominant sex-specific phylotypes responsible for the differences between MDD patients and healthy controls. In total, 57 and 74 differential operational taxonomic units responsible for separating female and male MDD patients from their healthy counterparts were identified. Compared with their healthy counterparts, increased Actinobacteria and decreased Bacteroidetes levels were found in female and male MDD patients, respectively. The most differentially abundant bacterial taxa in female and male MDD patients belonged to phyla Actinobacteria and Bacteroidia, respectively. Meanwhile, female and male MDD patients had different dominant phylotypes. These results demonstrated that there were sex differences in gut microbiota in patients with MDD. The suitability of Actinobacteria and Bacteroidia as the sex-specific biomarkers for diagnosing MDD should be further explored.

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

Science.gov (United States)

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

2013-01-01

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

Cross-sex pattern of bone mineral density in early onset gender identity disorder.

Science.gov (United States)

Haraldsen, I R; Haug, E; Falch, J; Egeland, T; Opjordsmoen, S

2007-09-01

Hormonally controlled differences in bone mineral density (BMD) between males and females are well studied. The effects of cross-sex hormones on bone metabolism in patients with early onset gender identity disorder (EO-GID), however, are unclear. We examined BMD, total body fat (TBF) and total lean body mass (TLBM) in patients prior to initiation of sex hormone treatment and during treatment at months 3 and 12. The study included 33 EO-GID patients who were approved for sex reassignment and a control group of 122 healthy Norwegians (males, n=77; females, n=45). Male patients (n=12) received an oral dose of 50 mug ethinylestradiol daily for the first 3 months and 100 mug daily thereafter. Female patients (n=21) received 250 mg testosterone enantate intramuscularly every third week. BMD, TBF and TLBM were estimated using dual energy X-ray absorptiometry (DXA). In male patients, the DXA measurements except TBF were significantly lower compared to their same-sex control group at baseline and did not change during treatment. In female patients, the DXA measurements were slightly higher than in same-sex controls at baseline and also remained unchanged during treatment. In conclusion, this study reports that body composition and bone density of EO-GID patients show less pronounced sex differences compared to controls and that bone density was unaffected by cross-sex hormone treatment.

Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development.

Science.gov (United States)

Suorsa, Kristina I; Mullins, Alexandria J; Tackett, Alayna P; Reyes, Kristy J Scott; Austin, Paul; Baskin, Laurence; Bernabé, Kerlly; Cheng, Earl; Fried, Allyson; Frimberger, Dominic; Galan, Denise; Gonzalez, Lynette; Greenfield, Saul; Kropp, Bradley; Meyer, Sabrina; Meyer, Theresa; Nokoff, Natalie; Palmer, Blake; Poppas, Dix; Paradis, Alethea; Yerkes, Elizabeth; Wisniewski, Amy B; Mullins, Larry L

2015-12-01

We examined the psychosocial characteristics of parents of children with disorders of sex development at early presentation to a disorders of sex development clinic. Parental anxiety, depression, quality of life, illness uncertainty and posttraumatic stress symptoms were assessed. Additionally we evaluated the relationship of assigned child gender to parental outcomes. A total of 51 parents of children with ambiguous or atypical genitalia were recruited from 7 centers specializing in treatment of disorders of sex development. At initial assessment no child had undergone genitoplasty. Parents completed the Cosmetic Appearance Rating Scale, Beck Anxiety Inventory, Beck Depression Inventory, SF-36, Parent Perception of Uncertainty Scale and Impact of Event Scale-Revised. A large percentage of parents (54.5%) were dissatisfied with the genital appearance of their child, and a small but significant percentage reported symptoms of anxiety, depression, diminished quality of life, uncertainty and posttraumatic stress. Few gender differences emerged. Although many parents function well, a subset experience significant psychological distress around the time of diagnosis of a disorder of sex development in their child. Early screening to assess the need for psychosocial interventions is warranted. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Examining Playground Engagement between Elementary School Children with and without Autism Spectrum Disorder

Science.gov (United States)

Locke, Jill; Shih, Wendy; Kretzmann, Mark; Kasari, Connie

2016-01-01

Little is known about the social behavior of children with and without autism spectrum disorder during recess. This study documented the naturally occurring recess engagement and peer interaction behaviors of children with and without autism spectrum disorder in inclusive school settings. Participants included 51 children with autism spectrum…

Differences in Physical Activity during School Recess

Science.gov (United States)

Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer

2011-01-01

Background: School recess provides a daily opportunity for physical activity engagement. The purpose of this study was to examine physical activity levels during recess by gender, ethnicity, and grade, and establish the contribution of recess to daily school physical activity levels. Methods: Two hundred and ten children (45% boys) from grades 3…

A psychometric evaluation of the DSM-IV borderline personality disorder criteria: age and sex moderation of criterion functioning

Science.gov (United States)

Aggen, S. H.; Neale, M. C.; Røysamb, E.; Reichborn-Kjennerud, T.; Kendler, K. S.

2009-01-01

Background Despite its importance as a paradigmatic personality disorder, little is known about the measurement invariance of the DSM-IV borderline personality disorder (BPD) criteria ; that is, whether the criteria assess the disorder equivalently across different groups. Method BPD criteria were evaluated at interview in 2794 young adult Norwegian twins. Analyses, based on item-response modeling, were conducted to test for differential age and sex moderation of the individual BPD criteria characteristics given factor-level covariate effects. Results Confirmatory factor analytic results supported a unidimensional structure for the nine BPD criteria. Compared to males, females had a higher BPD factor mean, larger factor variance and there was a significant age by sex interaction on the factor mean. Strong differential sex and age by sex interaction effects were found for the ‘ impulsivity ’ criterion factor loading and threshold. Impulsivity related to the BPD factor poorly in young females but improved significantly in older females. Males reported more impulsivity compared to females and this difference increased with age. The ‘ affective instability ’ threshold was also moderated, with males reporting less than expected. Conclusions The results suggest the DSM-IV BPD ‘ impulsivity ’ and ‘ affective instability ’ criteria function differentially with respect to age and sex, with impulsivity being especially problematic. If verified, these findings have important implications for the interpretation of prior research with these criteria. These non-invariant age and sex effects may be identifying criteria-level expression features relevant to BPD nosology and etiology. Criterion functioning assessed using modern psychometric methods should be considered in the development of DSM-V. PMID:19400977

Inhibitory action of chlorophyllin of autosome recessive lethals induced by irradiation

International Nuclear Information System (INIS)

Salceda, V.M.; Pimentel, P.A.E.; Cruces, M.P.

2006-01-01

The chlorophyllin is a sodium salt of the chlorophyll that has a strong protective action of the damage induced by different agents so much physical as chemical. In Drosophila there is reported this effect in somatic cells. In contrast, in germinal cells using tests with the sexual chromosomes has not been found such inhibitory action. For this reason, in this occasion we will refer to the effect of the lethality induced in autosome chromosomes, in particular to the chromosome II of this species. For such effect groups of males of the line Canton-S its were pre-treated for 24h with or without 69 mm of CCS and later on treaties with or without 40 Gy of gamma irradiation. The males were then subjected to the technical Cy L / Pm for the detection of recessive lethals. In the third generation the respective counts of the descendant of each one of them to determine the corresponding categories for each extracted chromosome were made. To be mendelian crosses it is expected for a normal chromosome a proportion 2:1 of individuals with genotype Cy L / +: +/+. The absence of individuals +/+ it is indicative of a lethal gene, until 10% of these individuals of each male's total descendant, it is considered that is carrying of a semi lethal gene. The sum of lethal and semi lethals constitutes the category detrimental. The obtained results indicated that the pre-treatment with CCS reduces in a significant way the frequency of induced lethals by 40 Gy of gamma rays. The fact that an effect inhibitor has not been observed in the test of recessive lethal bound to the sex obtained previously, it contrasts with the effect observed in the chromosome II, results of this study and with the one observed in the chromosome III in somatic cells. The above-mentioned shows a differential action of the CCS between sexual chromosomes and autosomal before the effect of the gamma radiation. At the moment we don't have an explanation to these evidences. To evaluate the action of the chlorophyllin

The physiological impacts of wealth shocks in late life: Evidence from the Great Recession.

Science.gov (United States)

Boen, Courtney; Yang, Y Claire

2016-02-01

Given documented links between individual socioeconomic status (SES) and health, it is likely that-in addition to its impacts on individuals' wallets and bank accounts-the Great Recession also took a toll on individuals' disease and mortality risk. Exploiting a quasi-natural experiment design, this study utilizes nationally representative, longitudinal data from the National Social Life, Health, and Aging Project (NSHAP) (2005-2011) (N = 930) and individual fixed effects models to examine how household-level wealth shocks experienced during the Great Recession relate to changes in biophysiological functioning in older adults. Results indicate that wealth shocks significantly predicted changes in physiological functioning, such that losses in net worth from the pre-to the post-Recession period were associated with increases in systolic blood pressure and C-reactive protein over the six year period. Further, while the association between wealth shocks and changes in blood pressure was unattenuated with the inclusion of other indicators of SES, psychosocial well-being, and health behaviors in analytic models, we document some evidence of mediation in the association between changes in wealth and changes in C-reactive protein, which suggests specificity in the social and biophysiological mechanisms relating wealth shocks and health at older ages. Linking macro-level conditions, meso-level household environments, and micro-level biological processes, this study provides new insights into the mechanisms through which economic inequality contributes to disease and mortality risk in late life. Copyright © 2015 Elsevier Ltd. All rights reserved.

Identifying disordered eating behaviours in adolescents: how do parent and adolescent reports differ by sex and age?

Science.gov (United States)

Bartholdy, Savani; Allen, Karina; Hodsoll, John; O'Daly, Owen G; Campbell, Iain C; Banaschewski, Tobias; Bokde, Arun L W; Bromberg, Uli; Büchel, Christian; Quinlan, Erin Burke; Conrod, Patricia J; Desrivières, Sylvane; Flor, Herta; Frouin, Vincent; Gallinat, Jürgen; Garavan, Hugh; Heinz, Andreas; Ittermann, Bernd; Martinot, Jean-Luc; Artiges, Eric; Nees, Frauke; Orfanos, Dimitri Papadopoulos; Paus, Tomáš; Poustka, Luise; Smolka, Michael N; Mennigen, Eva; Walter, Henrik; Whelan, Robert; Schumann, Gunter; Schmidt, Ulrike

2017-06-01

This study investigated the prevalence of disordered eating cognitions and behaviours across mid-adolescence in a large European sample, and explored the extent to which prevalence ratings were affected by informant (parent/adolescent), or the sex or age of the adolescent. The Development and Well-Being Assessment was completed by parent-adolescent dyads at age 14 (n = 2225) and again at age 16 (n = 1607) to explore the prevalence of 7 eating disorder symptoms (binge eating, purging, fear of weight gain, distress over shape/weight, avoidance of fattening foods, food restriction, and exercise for weight loss). Informant agreement was assessed using kappa coefficients. Generalised estimating equations were performed to explore the impact of age, sex and informant on symptom prevalence. Slight to fair agreement was observed between parent and adolescent reports (kappa estimates between 0.045 and 0.318); however, this was largely driven by agreement on the absence of behaviours. Disordered eating behaviours were more consistently endorsed amongst girls compared to boys (odds ratios: 2.96-5.90) and by adolescents compared to their parents (odds ratios: 2.71-9.05). Our data are consistent with previous findings in epidemiological studies. The findings suggest that sex-related differences in the prevalence of disordered eating behaviour are established by mid-adolescence. The greater prevalence rates obtained from adolescent compared to parent reports may be due to the secretive nature of the behaviours and/or lack of awareness by parents. If adolescent reports are overlooked, the disordered behaviour may have a greater opportunity to become more entrenched.

Associations linking parenting styles and offspring personality disorder are moderated by parental personality disorder, evidence from China.

Science.gov (United States)

Cheng, Hui Green; Huang, Yueqin; Liu, Zhaorui; Liu, Baohua

2011-08-30

The aim of the study is to examine the association linking parenting and personality disorder controlling for parental personality disorder, and whether this association is moderated by parental PD. Data were from community-dwelling high school students aged 18 and above and their parents living in Beijing, China. A total of 181 cases and 2,605 controls were included in this study. Personality disorder in students was assessed via a two-stage approach, Personality Diagnostic Questionnaire as a screening tool and International Personality Disorder Examination as the diagnostic tool. Information about parenting was collected from students using Egna Minnen av. Betraffande Uppfostran. Negative parenting styles, e.g. rejective or over-protective parenting, were found to be associated with the occurrence of personality disorder. Conflictive parenting styles were also found to be associated with personality disorder. Generally stronger associations were found for students with parental personality disorder as compared to students without parental personality disorder. Findings from this study support the role of parenting in the occurrence of PD, especially for children with family history of personality disorder. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Fetal exposure to maternal stress and risk for schizophrenia spectrum disorders among offspring: Differential influences of fetal sex.

Science.gov (United States)

Fineberg, Anna M; Ellman, Lauren M; Schaefer, Catherine A; Maxwell, Seth D; Shen, Ling; H Chaudhury, Nashid; Cook, Aundrea L; Bresnahan, Michaeline A; Susser, Ezra S; Brown, Alan S

2016-02-28

Exposure to adverse life events during pregnancy has been linked to increased risk of schizophrenia spectrum disorders (SSD) in offspring. Nevertheless, much of the previous work inferred maternal stress from severe life events rather than directly assessing maternal reports of stress. The present study aimed to examine maternal reports of stress during pregnancy and risk for offspring SSD. Participants were 95 SSD cases and 206 controls who were offspring from a large birth cohort study that followed pregnant women from 1959 to 1966. During pregnancy interviews, women were asked if anything worrisome had occurred recently. Interviews were qualitatively coded for stress-related themes, including reports of daily life stress, by two independent raters. None of the maternal psychosocial stress themes were significantly associated with increased odds of offspring SSD in analyses of the full sample. However, results indicated a significant daily life stress by infant sex interaction. Maternal daily life stress during pregnancy was associated with significantly increased odds of SSD among male offspring. Findings suggest sex-specific fetal sensitivity to maternal reported daily life stress during pregnancy on risk for SSD, with males appearing to be more vulnerable to the influences of maternal stress during pregnancy. Published by Elsevier Ireland Ltd.

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.

Science.gov (United States)

Croft, Brittany; Ayers, Katie; Sinclair, Andrew; Ohnesorg, Thomas

2016-12-01

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337-350, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Sex-related differences in sleep slow wave activity in major depressive disorder: a high-density EEG investigation.

Science.gov (United States)

Plante, David T; Landsness, Eric C; Peterson, Michael J; Goldstein, Michael R; Riedner, Brady A; Wanger, Timothy; Guokas, Jeffrey J; Tononi, Giulio; Benca, Ruth M

2012-09-18

Sleep disturbance plays an important role in major depressive disorder (MDD). Prior investigations have demonstrated that slow wave activity (SWA) during sleep is altered in MDD; however, results have not been consistent across studies, which may be due in part to sex-related differences in SWA and/or limited spatial resolution of spectral analyses. This study sought to characterize SWA in MDD utilizing high-density electroencephalography (hdEEG) to examine the topography of SWA across the cortex in MDD, as well as sex-related variation in SWA topography in the disorder. All-night recordings with 256 channel hdEEG were collected in 30 unipolar MDD subjects (19 women) and 30 age and sex-matched control subjects. Spectral analyses of SWA were performed to determine group differences. SWA was compared between MDD and controls, including analyses stratified by sex, using statistical non-parametric mapping to correct for multiple comparisons of topographic data. As a group, MDD subjects demonstrated significant increases in all-night SWA primarily in bilateral prefrontal channels. When stratified by sex, MDD women demonstrated global increases in SWA relative to age-matched controls that were most consistent in bilateral prefrontal regions; however, MDD men showed no significant differences relative to age-matched controls. Further analyses demonstrated increased SWA in MDD women was most prominent in the first portion of the night. Women, but not men with MDD demonstrate significant increases in SWA in multiple cortical areas relative to control subjects. Further research is warranted to investigate the role of SWA in MDD, and to clarify how increased SWA in women with MDD is related to the pathophysiology of the disorder.

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

Science.gov (United States)

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

2015-01-01

Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with…

Modified adjustable suture hang-back recession: Description of technique and comparison with conventional adjustable hang-back recession

Directory of Open Access Journals (Sweden)

Siddharth Agrawal

2017-01-01

Full Text Available Purpose: This study aims to describe and compare modified hang-back recession with the conventional hang-back recession in large angle comitant exotropia (XT. Methods: A prospective, interventional, double-blinded, randomized study on adult patients (>18 years undergoing single eye recession-resection for large angle (>30 prism diopters constant comitant XT was conducted between January 2011 and December 2015. Patients in Group A underwent modified hang-back lateral rectus recession with adjustable knot while in Group B underwent conventional hang-back recession with an adjustable knot. Outcome parameters studied were readjustment rate, change in deviation at 6 weeks, complications and need for resurgery at 6 months. Results: The groups were comparable in terms of age and preoperative deviation. The patients with the modified hang back (Group A fared significantly better (P < 0.05 than those with conventional hang back (Group B in terms of lesser need for adjustment, greater correction in deviation at 6 weeks and lesser need for resurgery at 6 months. Conclusion: This modification offers several advantages, significantly reduces resurgery requirement and has no added complications.

Uptake of a women-only, sex-work-specific drop-in center and links with sexual and reproductive health care for sex workers.

Science.gov (United States)

Kim, Soyoun Rachel; Goldenberg, Shira M; Duff, Putu; Nguyen, Paul; Gibson, Kate; Shannon, Kate

2015-03-01

To longitudinally examine female sex workers' (FSWs') uptake of a women-only, sex-work-specific drop-in service and its impact on their access to sexual and reproductive health (SRH) services. For the present longitudinal analysis, data were drawn from the AESHA (An Evaluation of Sex Workers' Health Access) study, a community-based, open, prospective cohort of FSWs from Vancouver, BC, Canada. Data obtained between January 2010 and February 2013 were analyzed. Participants are followed up on a semi-annual basis. Multivariable logistic regression using generalized estimating equations was used to identify correlates of service uptake. Of 547 FSWs included in the present analysis, 330 (60.3%) utilized the services during the 3-year study period. Service use was independently associated with age (adjusted odds ratio [AOR] 1.04; 95% confidence interval [CI] 1.03-1.06), Aboriginal ancestry (AOR 2.18; 95% CI 1.61-2.95), injection drug use (AOR 1.67; 95% CI 1.29-2.17), exchange of sex for drugs (AOR 1.40; 95%CI 1.15-1.71), and accessing SRH services (AOR 1.65; 95% CI 1.35-2.02). A sex-work-specific drop-in space for marginalized FSWs had high uptake. Women-centered and low-threshold drop-in services can effectively link marginalized women with SRH services. Copyright © 2014 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Science.gov (United States)

Barnes, Aileen M; Cabral, Wayne A; Weis, MaryAnn; Makareeva, Elena; Mertz, Edward L; Leikin, Sergey; Eyre, David; Trujillo, Carlos; Marini, Joan C

2012-11-01

Recessive osteogenesis imperfecta (OI) is caused by defects in genes whose products interact with type I collagen for modification and/or folding. We identified a Palestinian pedigree with moderate and lethal forms of recessive OI caused by mutations in FKBP10 or PPIB, which encode endoplasmic reticulum resident chaperone/isomerases FKBP65 and CyPB, respectively. In one pedigree branch, both parents carry a deletion in PPIB (c.563_566delACAG), causing lethal type IX OI in their two children. In another branch, a child with moderate type XI OI has a homozygous FKBP10 mutation (c.1271_1272delCCinsA). Proband FKBP10 transcripts are 4% of control and FKBP65 protein is absent from proband cells. Proband collagen electrophoresis reveals slight band broadening, compatible with ≈10% over-modification. Normal chain incorporation, helix folding, and collagen T(m) support a minimal general collagen chaperone role for FKBP65. However, there is a dramatic decrease in collagen deposited in culture despite normal collagen secretion. Mass spectrometry reveals absence of hydroxylation of the collagen telopeptide lysine involved in cross-linking, suggesting that FKBP65 is required for lysyl hydroxylase activity or access to type I collagen telopeptide lysines, perhaps through its function as a peptidylprolyl isomerase. Proband collagen to organics ratio in matrix is approximately 30% of normal in Raman spectra. Immunofluorescence shows sparse, disorganized collagen fibrils in proband matrix. Published 2012 Wiley Periodicals, Inc.*This article is a US Government work and, as such, is in the public domain of the United States of America.

Sex and gender differences in post-traumatic stress disorder: an update

OpenAIRE

Olff, Miranda

2017-01-01

ABSTRACT Background: Women have a two to three times higher risk of developing post-traumatic stress disorder (PTSD) compared to men. Several factors are involved explaining this difference (Christiansen & Hansen, 2015). Both psychosocial and biological explanations (e.g. oxytocin related) have been suggested and will be reviewed in this paper. To date, we are still behind in gender- and sex-sensitive research and reporting. Prevalence and type of trauma: The lifetime prevalence of PTSD is ab...

Gingival recession: a cross-sectional clinical investigation.

Science.gov (United States)

Goutoudi, P; Koidis, P T; Konstantinidis, A

1997-06-01

In this cross-sectional study, risk and potentially causative factors of gingival recession were examined and their relationship to apical migration of the gingival margin evaluated. Thirty eight patients (18-60 years), displaying one or more sites with gingival recession but without any significant periodontal disease participated. A total of 28 parameters were evaluated in both 'test' teeth (50 teeth with gingival recession) and 'control' teeth (50 contralateral teeth). The results revealed that gingival margin recession was associated with both high inflammatory and plaque scores, with decreased widths of keratinized and attached gingiva and with the subjects' toothbrush bristle hardness.

The incidence of genetic disorders in children and young adults

International Nuclear Information System (INIS)

Anderson, T.W.; Baird, P.A.; Lowry, R.B.; Newcombe, H.B.

1987-11-01

Current estimates of the genetic risks from exposure to ionizing radiation are based on two kinds of data: a) incidence rates in humans for the genetic diseases that are believed to be present in the population due to mutations of natural origin, and b) radiation induced mutation rates. One necessary prerequisite before any possible increase in genetic load from mutagens can be estimated is baseline information on the magnitude of genetically-caused ill health already present in the population. The present study utilizes the data base of an ongoing population-based Registry with multiple sources of ascertainment to estimate the present population load from genetic disease. It was found that 4.9% of liveborn individuals below 25 can be expected to have genetic or partly genetic diseases. This was composed of single-gene disorders (autosomal dominant, autosomal recessive and X-linked recessive), chromosomal anomalies and multifactorial disorders (including those present at birth and those later in onset). Since previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, data are also presented separately for this category to facilitate comparison with earlier studies. These new data should represent a better estimate of the genetic load in the population than previous studies

Effect of tryptophan hydroxylase gene polymorphism on aggression in major depressive disorder and undifferentiated somatoform disorder.

Science.gov (United States)

Koh, Kyung Bong; Kim, Chan Hyung; Choi, Eun Hee; Lee, Young-joon; Seo, Won Youl

2012-05-01

Aggression and anger have been linked with depression, and anger suppression has been linked with somatic symptoms of somatoform disorders. However, the relationship between aggression or anger and genes in patients with depression and somatoform disorders has not been clearly elucidated. The objective of this study was to examine the effect of serotonin-related gene polymorphism on aggression in depressive disorders and somatoform disorders. A serotonin-related polymorphic marker was assessed by using single nucleotide polymorphism (SNP) genotyping. 106 outpatients with major depressive disorder (MDD), 102 outpatients with undifferentiated somatoform disorder, and 133 healthy subjects were enrolled between October 2005 and May 2008. Diagnoses were made according to the Korean version of the Structured Clinical Interview Schedule for DSM-IV. The allele and genotype frequencies of tryptophan hydroxylase-1 (TPH1) A218C were compared between groups. The Hamilton Depression Rating Scale and the Aggression Questionnaire were used for psychological assessment. Each of the 2 disorder groups scored significantly higher on all the Aggression Questionnaire subscales and on the total Aggression Questionnaire score than the healthy subjects (P sex and age. However, no significant differences were found in TPH1 C allele and CC homozygote frequencies between the undifferentiated somatoform disorder patients and the healthy subjects. TPH1 CC homozygote in the MDD group scored significantly higher in terms of verbal aggression (P = .03) and total Aggression Questionnaire score (P = .04) than A-carrier genotypes, regardless of sex and age. However, no significant differences were found in the scores of all the Aggression Questionnaire subscales and the total Aggression Questionnaire score between TPH1 CC homozygote and A-carrier genotypes in the undifferentiated somatoform disorder group and the control group, respectively. Aggression in MDD patients is more susceptible to an

What Does Sex Have to Do with It? The Role of Sex as a Biological Variable in the Development of Posttraumatic Stress Disorder.

Science.gov (United States)

Kornfield, Sara L; Hantsoo, Liisa; Epperson, C Neill

2018-05-18

This review highlights the neurobiological aspects of sex differences in posttraumatic stress disorder (PTSD), specifically focusing on the physiological responses to trauma and presents evidence supporting hormone and neurosteroid/peptide differences from both preclinical and clinical research. While others have suggested that trauma type or acute emotional reaction are responsible for women's disproportionate risk to PTSD, neither of these explanations fully accounts for the sex differences in PTSD. Sex differences in brain neurocircuitry, anatomy, and neurobiological processes, such as those involved in learning and memory, are discussed as they have been implicated in risk and resilience for the development of PTSD. Gonadal and stress hormones have been found to modulate sex differences in the neurocircuitry and neurochemistry underlying fear learning and extinction. Preclinical research has not consistently controlled for hormonal and reproductive status of rodents nor have clinical studies consistently examined these factors as potential moderators of risk for PTSD. Sex as a biological variable (SABV) should be considered, in addition to the endocrine and reproductive status of participants, in all stress physiology and PTSD research.

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

Science.gov (United States)

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

2012-10-01

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Thoughts on the nature of identity: how disorders of sex development inform clinical research about gender identity disorders.

Science.gov (United States)

Reiner, William G; Reiner, D Townsend

2012-01-01

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

Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.

Directory of Open Access Journals (Sweden)

Jun Xu

Full Text Available Jarid1c, an X-linked gene coding for a histone demethylase, plays an important role in brain development and function. Notably, JARID1C mutations cause mental retardation and increased aggression in humans. These phenotypes are consistent with the expression patterns we have identified in mouse brain where Jarid1c mRNA was detected in hippocampus, hypothalamus, and cerebellum. Jarid1c expression and associated active histone marks at its 5'end are high in P19 neurons, indicating that JARID1C demethylase plays an important role in differentiated neuronal cells. We found that XX mice expressed Jarid1c more highly than XY mice, independent of their gonadal types (testes versus ovaries. This increased expression in XX mice is consistent with Jarid1c escape from X inactivation and is not compensated by expression from the Y-linked paralogue Jarid1d, which is expressed at a very low level compared to the X paralogue in P19 cells. Our observations suggest that sex-specific expression of Jarid1c may contribute to sex differences in brain function.

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Science.gov (United States)

Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

2006-06-15

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

Experiences of Sex Education and Sexual Awareness in Young Adults with Autism Spectrum Disorder

Science.gov (United States)

Hannah, Laura A.; Stagg, Steven D.

2016-01-01

The research investigated feelings towards sex education and sexual awareness in young adults with autism spectrum disorder (ASD). Data were generated from the sexual knowledge, experiences, feelings and needs questionnaire (McCabe et al. 1999), the sexual awareness questionnaire (Snell et al. 1991) and semi-structured interviews. Twenty typically…

HYDRORECESSION: A toolbox for streamflow recession analysis

Science.gov (United States)

Arciniega, S.

2015-12-01

Streamflow recession curves are hydrological signatures allowing to study the relationship between groundwater storage and baseflow and/or low flows at the catchment scale. Recent studies have showed that streamflow recession analysis can be quite sensitive to the combination of different models, extraction techniques and parameter estimation methods. In order to better characterize streamflow recession curves, new methodologies combining multiple approaches have been recommended. The HYDRORECESSION toolbox, presented here, is a Matlab graphical user interface developed to analyse streamflow recession time series with the support of different tools allowing to parameterize linear and nonlinear storage-outflow relationships through four of the most useful recession models (Maillet, Boussinesq, Coutagne and Wittenberg). The toolbox includes four parameter-fitting techniques (linear regression, lower envelope, data binning and mean squared error) and three different methods to extract hydrograph recessions segments (Vogel, Brutsaert and Aksoy). In addition, the toolbox has a module that separates the baseflow component from the observed hydrograph using the inverse reservoir algorithm. Potential applications provided by HYDRORECESSION include model parameter analysis, hydrological regionalization and classification, baseflow index estimates, catchment-scale recharge and low-flows modelling, among others. HYDRORECESSION is freely available for non-commercial and academic purposes.

Performance Analysis of High-Speed Deep/Shallow Recessed Hybrid Bearing

Directory of Open Access Journals (Sweden)

Lei Wang

2013-01-01

Full Text Available The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and width of shallow recess. The results indicate that the load capacity, drag torque increases as the depth of shallow recess is shallower and the width ratio (half angle of deep recess versus half angle of shallow recess is smaller. In contrast, the flow rate decreases as the depth of shallow recess is shallower and the width ratio is smaller. Nevertheless, the appropriate design of the depth and width of shallow recess might well induce the performance of high-speed deep/shallow recessed hybrid bearing.

Prognostic Indicators of Gingival Recession in Nigeria: Preliminary Findings

Directory of Open Access Journals (Sweden)

Michael Adedigba

2010-06-01

Full Text Available AIM: Literature is replete with studies on gingival recession, the apical shift of the gingival margin from the cemento-enamel junction. Chronic periodontitis and frequent toothbrushing are among its aetiological factors. Many of these were however prevalence studies. The current study was therefore aimed at separating prognostic indicators from determinants of the number of recessions. METHOD: 650 consecutive adult patients visiting a Nigerian teaching hospital were examined using a checklist including plaque, calculus, Miller’s class of recession and other parameters.. A total of 408 recession sites were identified. RESULTS: The mean age of the patients with recession was 42.3 years; mean number of recession was 4.74 Incisors had the highest number of recessions (35.7%. While a factor such as age was related both to the number and prognosis of recession sites, abrasion and plaque were only related to prognosis. Again, some of the factors previously significantly related to prognosis on univariate analysis like calculus and smoking, lost their significance on regression analysis. CONCLUSION: The three strongest predictors of prognosis (Miller’s class of recession were age, plaque and abrasion. [TAF Prev Med Bull 2010; 9(3.000: 187-194

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Science.gov (United States)

Rivolta, C; Sweklo, E A; Berson, E L; Dryja, T P

2000-06-01

Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.

Recessive omodysplasia: five new cases and review of the literature

International Nuclear Information System (INIS)

Elcioglu, Nursel H.; Gustavson, Karl H.; Wilkie, Andrew O.M.; Yueksel-Apak, Memune; Spranger, Juergen W.

2004-01-01

Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. Five new patients, including two sibs, with autosomal recessive omodysplasia are presented. Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis. Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms. (orig.)

The Great Recession and America's Geography of Unemployment.

Science.gov (United States)

Thiede, Brian C; Monnat, Shannon M

The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession-related increases in unemployment.

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Science.gov (United States)

2013-11-21

Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

Science.gov (United States)

Borgulova, I; Putzova, M; Soldatova, I; Krautova, L; Pecnova, L; Mika, J; Kren, R; Potuznikova, P; Stejskal, D

2015-01-01

Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).

Status hierarchy, attractiveness hierarchy and sex ratio : Three contextual factors explaining the status-aggression link among adolescents

NARCIS (Netherlands)

Zwaan, Michiel; Dijkstra, Jan; Veenstra, René

The moderating effects of three specific conditions (status hierarchy, attractiveness hierarchy and sex ratio) on the link between status (popularity) and physical and relational aggression were examined in a large sample of adolescent boys (N = 1,665) and girls (N = 1,637) (M age = 13.60). In line

Sex differences in the phenotypic expression of obsessive-compulsive disorder: an exploratory study from Brazil.

Science.gov (United States)

Torresan, Ricardo Cezar; Ramos-Cerqueira, Ana Teresa de Abreu; de Mathis, Maria Alice; Diniz, Juliana Belo; Ferrão, Ygor Arzeno; Miguel, Euripedes Constantino; Torres, Albina Rodrigues

2009-01-01

Previous studies have shown differences in clinical features of obsessive-compulsive disorder (OCD) between men and women, including mean age at onset of obsessive-compulsive symptoms (OCS), types of OCS, comorbid disorders, course, and prognosis. The aim of this study was to compare male and female Brazilian patients with OCD on several demographic and clinical characteristics. Three hundred thirty outpatients with OCD (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition [DSM-IV], criteria) who sought treatment at 3 Brazilian public universities and at 2 private practice clinics in the city of São Paulo were evaluated. The assessment instruments used were the Yale-Brown Obsessive-Compulsive Scale to evaluate OCD severity and symptoms, the Beck Depression and Anxiety Inventories, the Yale Global Tic Severity Scale, and the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Axis I Disorders to assess psychiatric comorbidity. Fifty-five percent of the patients (n = 182) were men who were significantly more likely than women to be single and to present sexual, religious, and symmetry obsessions and mental rituals. They also presented earlier onset of OCS and earlier symptom interference in functioning, and significantly more comorbid tic disorders and posttraumatic stress disorder. Women, besides showing significantly higher mean scores in the Beck Depression and Anxiety Inventories, were more likely to present comorbid simple phobias, eating disorders in general and anorexia in particular, impulse control disorders in general, and compulsive buying and skin picking in particular. No significant differences were observed between sexes concerning family history of OCS or OCD, and global symptoms severity, either in obsession or compulsive subscale. The present study confirms the presence of sex-related differences described in other countries and cultures. The fact that the OCS start earlier and

Disorders of sex development: a study of 194 cases

Directory of Open Access Journals (Sweden)

R Walia

2018-02-01

Full Text Available Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD. Design and setting: Retrospective study from a tertiary care hospital of North India. Methods and patients: One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included. Results: One hundred and two patients (52.5% had 46,XY DSD and seventy-four patients (38.1% had 46,XX DSD. Sex chromosome DSD was identified in seven (3.6% patients. Of 102 patients with 46,XY DSD, 32 (31.4% had androgen insensitivity syndrome and 26 (25.5% had androgen biosynthetic defect. Of the 74 patients with 46,XX DSD, 52 (70.27% had congenital adrenal hyperplasia (CAH and eight (10.8% had ovotesticular DSD. Five patients with sex chromosome DSD had mixed gonadal dysgenesis. Excluding CAH, majority of the patients (90% presented in the post-pubertal period. One-fourth of the patients with simple virilising CAH were reared as males because of strong male gender identity and behaviour and firm insistence by the parents. Corrective surgeries were performed in twenty patients (20% of 46,XY DSD without hormonal evaluation prior to the presentation. Conclusion: Congenital adrenal hyperplasia is the most common DSD in the present series. Most common XY DSD is androgen insensitivity syndrome, while CAH is the most common XX DSD. Delayed diagnosis is a common feature, and corrective surgeries are performed without seeking a definite diagnosis.

Topographic and sex-related differences in sleep spindles in major depressive disorder: a high-density EEG investigation.

Science.gov (United States)

Plante, D T; Goldstein, M R; Landsness, E C; Peterson, M J; Riedner, B A; Ferrarelli, F; Wanger, T; Guokas, J J; Tononi, G; Benca, R M

2013-03-20

Sleep spindles are believed to mediate several sleep-related functions including maintaining disconnection from the external environment during sleep, cortical development, and sleep-dependent memory consolidation. Prior studies that have examined sleep spindles in major depressive disorder (MDD) have not demonstrated consistent differences relative to control subjects, which may be due to sex-related variation and limited spatial resolution of spindle detection. Thus, this study sought to characterize sleep spindles in MDD using high-density electroencephalography (hdEEG) to examine the topography of sleep spindles across the cortex in MDD, as well as sex-related variation in spindle topography in the disorder. All-night hdEEG recordings were collected in 30 unipolar MDD participants (19 women) and 30 age and sex-matched controls. Topography of sleep spindle density, amplitude, duration, and integrated spindle activity (ISA) were assessed to determine group differences. Spindle parameters were compared between MDD and controls, including analysis stratified by sex. As a group, MDD subjects demonstrated significant increases in frontal and parietal spindle density and ISA compared to controls. When stratified by sex, MDD women demonstrated increases in frontal and parietal spindle density, amplitude, duration, and ISA; whereas MDD men demonstrated either no differences or decreases in spindle parameters. Given the number of male subjects, this study may be underpowered to detect differences in spindle parameters in male MDD participants. This study demonstrates topographic and sex-related differences in sleep spindles in MDD. Further research is warranted to investigate the role of sleep spindles and sex in the pathophysiology of MDD. Copyright © 2012 Elsevier B.V. All rights reserved.

Autonomic and inflammatory consequences of posttraumatic stress disorder and the link to cardiovascular disease.

Science.gov (United States)

Brudey, Chevelle; Park, Jeanie; Wiaderkiewicz, Jan; Kobayashi, Ihori; Mellman, Thomas A; Marvar, Paul J

2015-08-15

Stress- and anxiety-related disorders are on the rise in both military and general populations. Over the next decade, it is predicted that treatment of these conditions, in particular, posttraumatic stress disorder (PTSD), along with its associated long-term comorbidities, will challenge the health care system. Multiple organ systems are adversely affected by PTSD, and PTSD is linked to cancer, arthritis, digestive disease, and cardiovascular disease. Evidence for a strong link between PTSD and cardiovascular disease is compelling, and this review describes current clinical data linking PTSD to cardiovascular disease, via inflammation, autonomic dysfunction, and the renin-angiotensin system. Recent clinical and preclinical evidence regarding the role of the renin-angiotensin system in the extinction of fear memory and relevance in PTSD-related immune and autonomic dysfunction is also addressed. Copyright © 2015 the American Physiological Society.

The Great Recession and America's geography of unemployment

Directory of Open Access Journals (Sweden)

Brian Thiede

2016-09-01

Full Text Available Background: The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the US since the Great Depression of the 1930s. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective: To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods: We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results: The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions: The local consequences of macroeconomic trends are associated with county population characteristics, and the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state disparities in local labor market conditions. Contribution: To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately

Status Hierarchy, Attractiveness Hierarchy and Sex Ratio: Three Contextual Factors Explaining the Status-Aggression Link among Adolescents

Science.gov (United States)

Zwaan, Michiel; Dijkstra, Jan Kornelis; Veenstra, Rene

2013-01-01

The moderating effects of three specific conditions (status hierarchy, attractiveness hierarchy and sex ratio) on the link between status (popularity) and physical and relational aggression were examined in a large sample of adolescent boys ("N" = 1,665) and girls ("N" = 1,637) ("M" age = 13.60). In line with the…

Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus

NARCIS (Netherlands)

Trimpert, C.; van den Berg, D.T.; Fenton, R.A.; Klussmann, E.; Deen, P.M.T.

2012-01-01

Background Mutations in the aquaporin-2 (AQP2) gene cause nephrogenic diabetes insipidus (NDI), a renal disorder characterized by polyuria due to a lacking antidiuretic response to vasopressin. While most AQP2 mutants in recessive NDI are misfolded and retained in the endoplasmic reticulum,

Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.

Science.gov (United States)

Boria, F; Maseda, R; Martín-Cameán, M; De la Calle, M; de Lucas, R

2017-12-01

Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

The emerging link between O-GlcNAcylation and neurological disorders.

Science.gov (United States)

Ma, Xiaofeng; Li, He; He, Yating; Hao, Junwei

2017-10-01

O-linked β-N-acetylglucosaminylation (O-GlcNAcylation) is involved in the regulation of many cellular cascades and neurological diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), and stroke. In the brain, the expression of O-GlcNAcylation is notably heightened, as is that of O-linked N-acetylglucosaminyltransferase (OGT) and β-N-acetylglucosaminidase (OGA), the presence of which is prominent in many regions of neurological importance. Most importantly, O-GlcNAcylation is believed to contribute to the normal functioning of neurons; conversely, its dysregulation participates in the pathogenesis of neurological disorders. In neurodegenerative diseases, O-GlcNAcylation of the brain's key proteins, such as tau and amyloid-β, interacts with their phosphorylation, thereby triggering the formation of neurofibrillary tangles and amyloid plaques. An increase of O-GlcNAcylation by pharmacological intervention prevents neuronal loss. Additionally, O-GlcNAcylation is stress sensitive, and its elevation is cytoprotective. Increased O-GlcNAcylation ameliorated brain damage in victims of both trauma-hemorrhage and stroke. In this review, we summarize the current understanding of O-GlcNAcylation's physiological and pathological roles in the nervous system and provide a foundation for development of a therapeutic strategy for neurological disorders.

Bond return predictability in expansions and recessions

DEFF Research Database (Denmark)

Engsted, Tom; Møller, Stig Vinther; Jensen, Magnus David Sander

We document that over the period 1953-2011 US bond returns are predictable in expansionary periods but unpredictable during recessions. This result holds in both in-sample and out-of-sample analyses and using both univariate regressions and combination forecasting techniques. A simulation study...... but negative in recessions. The results are also consistent with tests showing that the expectations hypothesis of the term structure holds in recessions but not in expansions. However, the results for bonds are in sharp contrast to results for stocks showing that stock returns are predictable in recessions...... but not in expansions. Thus, our results indicate that there is not a common predictive pattern of stock and bond returns associated with the state of the economy....

sex and Cannibalism

Indian Academy of Sciences (India)

Home; Journals; Resonance – Journal of Science Education; Volume 5; Issue 12. The Secret Sex Lives of Rotifers Sex - sex and Cannibalism. T Ramakrishna Rao. General Article Volume 5 Issue 12 December 2000 pp 41-47. Fulltext. Click here to view fulltext PDF. Permanent link:

Disorders of sex development presenting as unilateral cryptorchidism

DEFF Research Database (Denmark)

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

2013-01-01

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

Sex Differences and Correlates of Pain in Patients with Comorbid Obesity and Binge Eating Disorder.

Science.gov (United States)

Masheb, Robin M; White, Marney A; Grilo, Carlos M

2016-05-01

Sex differences and correlates of pain were examined in a sample of patients with comorbid binge eating disorder (BED) and obesity. One hundred fifty-two treatment-seeking patients with BED completed the Brief Pain Inventory. Analysis of covariance was utilized to compare women and men on pain, and correlational analysis, overall and by sex, was performed to examine relationships among pain, eating behaviour and metabolic risk factors. Women reported significantly greater pain severity and pain interference than men. Among women, eating behaviour and metabolic markers were not associated with pain. Among men, however, binge frequency was significantly associated with pain, as was high-density lipoprotein cholesterol and fasting glucose. In sum, while women in this sample had more pain than men, the presence of pain in men was associated with increased behavioural and metabolic risk factors. Findings have clinical implications for the assessment of comorbid pain and obesity-related health risks among individuals with BED. © 2016 John Wiley & Sons, Ltd and Eating Disorders Association.

Molecular and cellular sex differences at the intersection of stress and arousal.

Science.gov (United States)

Valentino, Rita J; Reyes, Beverly; Van Bockstaele, Elisabeth; Bangasser, Debra

2012-01-01

Elucidating the mechanisms underlying sex biases in the prevalence and severity of diseases can advance our understanding of their pathophysiological basis and serve as a guide for developing treatments. A well-established sex difference in psychiatry is the higher incidence of mood and anxiety disorders in females. These disorders share stress as a potential etiological contributor and hyperarousal as a core symptom, suggesting that the distinction between sexes lies at the intersection of stress and arousal systems. This review focuses on the link between the stress axis and the brain norepinephrine arousal system as a key point at which sex differences occur and are translated to differences in the expression of mood disorders. Evidence for a circuit designed to relay emotion-related information via the limbic corticotropin-releasing factor (CRF) system to the locus coeruleus (LC)-norepinephrine arousal system is reviewed. This is followed by recent novel findings of sex differences in CRF receptor signaling and trafficking that would result in an enhanced arousal response and a compromised ability to adapt to chronic stress in females. Finally, we discuss the evidence for sex differences in LC dendritic structure that allow for an increased receipt and processing of limbic information in females compared to males. Together these complementary sets of data suggest that in females, the LC arousal system is poised to process more limbic information and to respond to some of this information in an enhanced manner compared to males. The clinical and therapeutic considerations arising from this perspective are discussed. This article is part of a Special Issue entitled 'Anxiety and Depression'. Copyright © 2011 Elsevier Ltd. All rights reserved.

The Islamic Perspectives of Gender-Related Issues in the Management of Patients With Disorders of Sex Development

OpenAIRE

Zainuddin, Ani Amelia; Mahdy, Zaleha Abdullah

2016-01-01

In Islam, the person with somatic sex ambiguity due to a disorder of sex development (DSD), such as 46,XX congenital adrenal hyperplasia or 46,XY androgen insensitivity, is recognized as khunsa. Two types of khunsa are distinguished: wadhih (discernible) and musykil (intractable). A recent fatwa (religious edict) in Malaysia decreed that it is permissible for male-assigned patients from these two groups to have gender reassignment surgery to female following diagnosis; however, the religious ...

Gingival Recessions and Biomechanics

DEFF Research Database (Denmark)

Laursen, Morten Godtfredsen

Gingival recessions and biomechanics “Tissue is the issue, but bone sets the tone.“ A tooth outside the cortical plate can result in loss of bone and development of a gingival recession. The presentation aims to show biomechanical considerations in relation to movement of teeth with gingival...... by moving the root back in the alveolus. The tooth movement is accompanied by bone gain and thus increase the success rate for soft tissue augmentation. The choice of biomechanical system influences the treatment outcome. If a standard straight wire appliance is used, a biomechanical dilemma can arise...

The link between negative emotions and eating disorder behaviour in patients with anorexia nervosa.

Science.gov (United States)

Espeset, Ester M S; Gulliksen, Kjersti S; Nordbø, Ragnfrid H S; Skårderud, Finn; Holte, Arne

2012-11-01

Several theoretical models suggest that deficits in emotional regulation are central in the maintenance of anorexia nervosa (AN). Few studies have examined how patients view the relationship between negative affect and anorectic behaviour. We explored how patients with AN manage the aversive emotions sadness, anger, fear and disgust, and how they link these experiences to their eating disorder behaviours. Qualitative data were collected through semi-structured interviews with 14 women aged 19-39 years diagnosed with AN (DSM-IV). Interviews were analyzed using Grounded Theory methods. The participants tended to inhibit expression of sadness and anger in interpersonal situations and reported high levels of anger towards themselves, self-disgust and fear of becoming fat. Different emotions were managed by means of specific eating disorder behaviours. Sadness was particularly linked to body dissatisfaction and was managed through restrictive eating and purging. Anger was avoided by means of restrictive eating and purging and released through anorectic self-control, self-harm and exercising. Fear was linked to fear of fatness and was managed through restrictive eating, purging and body checking. Participants avoided the feeling of disgust by avoiding food and body focused situations. Treatment models of eating disorders highlight the significance of working with emotional acceptance and coping in this patient group. Knowledge about how patients understand the relationships between their negative emotions and their anorectic behaviour may be an important addition to treatment programmes for AN. Copyright © 2012 John Wiley & Sons, Ltd and Eating Disorders Association.

New autosomal recessive faciodigitogenital syndrome.

OpenAIRE

Teebi, A S; Naguib, K K; Al-Awadi, S; Al-Saleh, Q A

1988-01-01

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short s...

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Science.gov (United States)

Hackl, Agnes; Mehler, Katrin; Gottschalk, Ingo; Vierzig, Anne; Eydam, Marcus; Hauke, Jan; Beck, Bodo B; Liebau, Max C; Ensenauer, Regina; Weber, Lutz T; Habbig, Sandra

2017-05-01

Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD. Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early

Gender identity disorder and schizophrenia: neurodevelopmental disorders with common causal mechanisms?

Science.gov (United States)

Rajkumar, Ravi Philip

2014-01-01

Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.

Gender Identity Disorder and Schizophrenia: Neurodevelopmental Disorders with Common Causal Mechanisms?

Directory of Open Access Journals (Sweden)

Ravi Philip Rajkumar

2014-01-01

Full Text Available Gender identity disorder (GID, recently renamed gender dysphoria (GD, is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF, early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.

Exploring the links between the phenomenology of creativity and bipolar disorder.

Science.gov (United States)

Taylor, Katherine; Fletcher, I; Lobban, F

2015-03-15

The links between bipolar disorder (BD) and creativity have historically attracted academic and public interest. Previous research highlights common characteristics of people considered to be highly creative, and those diagnosed with BD, including extraversion, impulsivity, divergent thinking and high motivation (Ma, 2009). In the first phenomenological study focussing on the links between creativity and extreme mood, an Interpretative Phenomenological Analysis (IPA) approach was used to collect and analyse in-depth interview data from seven people diagnosed with BD in the UK. Four key themes were constructed to reflect and convey the collective accounts: 1. High mood leads to an expanding mind; 2. Full steam ahead; 3. A reciprocal relationship between mood and creativity 4. Reframing bipolar experiences through creative activity. Participants were a small sample of people who were identified as having BD on the basis of a clinical diagnosis and Mood Disorders screening Questionnaire (MDQ), and who defined themselves as creative without further corroboration. Among this sample, creativity was recognised as a valued aspect of BD. Clinical services may usefully draw on creative resources to aid assessment and formulation, and even utilise the effects of creativity on the management of mood. Research demonstrates a high prevalence of non-adherence to medication among persons with BD and this ambivalence might be better understood when the links between extreme mood and creativity are considered. Copyright © 2015. Published by Elsevier B.V.

American undergraduate students' value development during the Great Recession.

Science.gov (United States)

Park, Heejung; Twenge, Jean M; Greenfield, Patricia M

2017-02-01

The Great Recession's influence on American undergraduate students' values was examined, testing Greenfield's and Kasser's theories concerning value development during economic downturns. Study 1 utilised aggregate-level data to investigate (a) population-level value changes between the pre-recession (2004-2006: n = 824,603) and recession freshman cohort (2008-2010: n = 662,262) and (b) overall associations of population-level values with national economic climates over long-term periods by correlating unemployment rates and concurrent aggregate-level values across 1966-2015 (n = 10 million). Study 2 examined individual-level longitudinal value development from freshman to senior year, and whether the developmental trajectories differed between those who completed undergraduate education before the Great Recession (freshmen in 2002, n = 12,792) versus those who encountered the Great Recession during undergraduate years (freshmen in 2006, n = 13,358). Results suggest American undergraduate students' increased communitarianism (supporting Greenfield) and materialism (supporting Kasser) during the Great Recession. The recession also appears to have slowed university students' development of positive self-views. Results contribute to the limited literature on the Great Recession's influence on young people's values. They also offer theoretical and practical implications, as values of this privileged group of young adults are important shapers of societal values, decisions, and policies. © 2016 International Union of Psychological Science.

Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis

DEFF Research Database (Denmark)

Hotz, A; Fagerberg, C; Vahlquist, A

2018-01-01

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from...

Sex-related differences in amygdala functional connectivity during resting conditions.

Science.gov (United States)

Kilpatrick, L A; Zald, D H; Pardo, J V; Cahill, L F

2006-04-01

Recent neuroimaging studies have established a sex-related hemispheric lateralization of amygdala involvement in memory for emotionally arousing material. Here, we examine the possibility that sex-related differences in amygdala involvement in memory for emotional material develop from differential patterns of amygdala functional connectivity evident in the resting brain. Seed voxel partial least square analyses of regional cerebral blood flow data revealed significant sex-related differences in amygdala functional connectivity during resting conditions. The right amygdala was associated with greater functional connectivity in men than in women. In contrast, the left amygdala was associated with greater functional connectivity in women than in men. Furthermore, the regions displaying stronger functional connectivity with the right amygdala in males (sensorimotor cortex, striatum, pulvinar) differed from those displaying stronger functional connectivity with the left amygdala in females (subgenual cortex, hypothalamus). These differences in functional connectivity at rest may link to sex-related differences in medical and psychiatric disorders.

Bimedial faden recession versus augmented medial rectus recession in the treatment of high ac/a ratio partially accommodative esotropia with large distant near disparity

Directory of Open Access Journals (Sweden)

Mohammed F Farid

2016-01-01

Faden recession achieves marginal superior control of DND and high AC/A ratio in convergence excess partially accommodative ET. Augmented recession also works well with the possible development of consecutive exotropia in cases with extremely high DND. This study recommends Augmented recession for cases with mild to moderate DND and Faden recession for cases with extremely large DND.

The relationship of sex and sexual orientation to self-esteem, body shape satisfaction, and eating disorder symptomatology

Directory of Open Access Journals (Sweden)

Chetra eYean

2013-11-01

Full Text Available There is increasing interest in understanding what role, if any, sex and sexual orientation play in body dissatisfaction, its correlates to distress, and its relationship to disordered eating. The goals of the present study were to examine: (a differences in sex and sexual orientation in internalization of societal pressure to modify physical appearance, components of body image dissatisfaction, self-esteem, and eating disorder symptomatology and (b whether the internalization-eating disorder symptomatology was mediated by the different components of body image dissatisfaction and low self-esteem. The present data support several key trends in the literature: men generally reported less body dissatisfaction, internalization of socio-cultural standards of beauty, drive for thinness, and disordered eating, but a greater drive for muscularity than women; results also indicated that different components of body image dissatisfaction and low self-esteem partially mediated the relationship between internalization and eating disorder symptomatology. Gay men reported significantly more body dissatisfaction, internalization, eating disorder symptomatology, drive for thinness, and drive for muscularity than heterosexual men. Compared to heterosexual women, lesbians reported increased drive for muscularity, lower self-esteem, and lower internalization; however, they did not significantly differ on body dissatisfaction, drive for thinness or disordered eating. Correlation coefficients between body shape dissatisfaction and several aspects of mental distress were significantly larger for gay men than heterosexual men; the same coefficients did not differ between lesbian women and heterosexual women. Results of path analyses indicated that the relationship between internalization and disordered eating differs for gay and heterosexual men but not for lesbian and heterosexual women. These results call attention to lesbians as a generally understudied population.

The relationship of sex and sexual orientation to self-esteem, body shape satisfaction, and eating disorder symptomatology.

Science.gov (United States)

Yean, Chetra; Benau, Erik M; Dakanalis, Antonios; Hormes, Julia M; Perone, Julie; Timko, C Alix

2013-01-01

There is increasing interest in understanding what role, if any, sex and sexual orientation play in body dissatisfaction, its correlates to distress, and its relationship to disordered eating. The goals of the present study were to examine: (a) differences in sex and sexual orientation in internalization of societal pressure to modify physical appearance, components of body image dissatisfaction, self-esteem, and eating disorder symptomatology and (b) whether the internalization-eating disorder symptomatology was mediated by the different components of body image dissatisfaction and low self-esteem. The present data support several key trends in the literature: men generally reported less body dissatisfaction, internalization of socio-cultural standards of beauty, drive for thinness, and disordered eating, but a greater drive for muscularity than women; results also indicated that different components of body image dissatisfaction and low self-esteem partially mediated the relationship between internalization and eating disorder symptomatology. Gay men reported significantly more body dissatisfaction, internalization, eating disorder symptomatology, drive for thinness, and drive for muscularity than heterosexual men. Compared to heterosexual women, lesbians reported increased drive for muscularity, lower self-esteem, and lower internalization; however, they did not significantly differ on body dissatisfaction, drive for thinness or disordered eating. Correlation coefficients between body shape dissatisfaction and several aspects of mental distress were significantly larger for gay men than heterosexual men; the same coefficients did not differ between lesbian women and heterosexual women. Results of path analyses indicated that the relationship between internalization and disordered eating differs for gay and heterosexual men but not for lesbian and heterosexual women. These results call attention to lesbians as a generally understudied population.

Vitamin D deficiency and low ionized calcium are linked with semen quality and sex steroid levels in infertile men

DEFF Research Database (Denmark)

Jensen, Martin Blomberg; Lawaetz, Jacob Gerner; Andersson, Anna-Maria

2016-01-01

STUDY QUESTION: Are low vitamin D levels linked with semen quality and sex steroids in infertile men? SUMMARY ANSWER: Infertile men with vitamin D deficiency had lower sperm motility, total numbers of motile sperm, Inhibin B, sex-hormone-binding-globulin (SHBG) and testosterone/estradiol ratio......, but higher levels of free sex steroids, than infertile men with normal vitamin D levels. WHAT IS KNOWN ALREADY: Low vitamin D levels have been associated with decreased sperm motility in healthy men, but a relationship between vitamin D and calcium with semen quality and especially sex steroids has not been...... infertile men, consecutively referred to our tertiary andrological centre for fertility workup, underwent a physical examination and had semen quality assessed based on two samples and blood analysed for serum testosterone, SHBG, estradiol, inhibin B, luteinizing hormone, follicle-stimulating hormone (FSH...

Mental Health and Substance Use Disorder Comorbidity among Methamphetamine-Using Men Who have Sex with Men.

Science.gov (United States)

Fletcher, Jesse B; Swendeman, Dallas; Reback, Cathy J

2018-04-02

Men who have sex with men (MSM) exhibit elevated rates of mental health and substance use disorder relative to their non-MSM male counterparts. Methamphetamine use in particular has been associated with both neuronal damage and mental health disorders among MSM, and this study reports on the prevalence and comorbidity of DSM-5 mental health and substance use disorders in a sample of methamphetamine-using MSM. From March 2014 through January 2015, 286 methamphetamine-using MSM enrolled in a study to reduce methamphetamine use and sexual risk behaviors. At baseline, participants demonstrated high rates of current major depressive episode (35.8%), antisocial personality disorder (23.9%), suicide risk (23.2%), obsessive-compulsive disorder (23.2%), and social phobia (20.4%), as well as methamphetamine use disorder (89.1%), marijuana use disorder (41.0%), alcohol use disorder (39.6%), cocaine use disorder (30.9%), and inhalants use disorder (15.4%). Analyses revealed significant (p disorder severity and all listed mental health disorders, as well as between alcohol use disorder and all listed mental health disorders. Mental health disorder prevalence and substance use disorder severity were both elevated, and both methamphetamine and alcohol use disorder severity were associated with increased likelihood of comorbid mental health disorder.

Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms

DEFF Research Database (Denmark)

Bultmann-Mellin, Insa; Conradi, Anne; Maul, Alexandra C

2015-01-01

Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C), which is a severe disorder caused by defects of the elastic fiber network. Although the human gene involved in ARCL1C has been ...

Effects of thyroid hormones on cartilage sulphation in sex-linked dwarf chickens

Energy Technology Data Exchange (ETDEWEB)

Hoshino, S.; Wakita, M.; Kobayashi, Y. (Faculty of Bioresources, Mie University, Tsu (Japan)); Kakegawa, T.; Suzuki, M. (Institute of Endocrinology, Gunma University, Maebashi (Japan))

1989-01-01

The present investigation was undertaken to see if exogenous thyroid hormone could stimulate cartilage sulphation in vivo and in vitro in sex-linked dwarf chickens. L-thyroxine or L-3,5,3'-triiodothyronine injection for 7 consecutive days stimulated in vivo /sup 35/SO/sub 4//sup 2-/ incorporation into trachea cartilages of the dwarf chicken. Both thyroid hormones added to the incubation medium with or without 2,5% dwarf chicken serum also stimulated in vitro /sup 35/SO/sub 4//sup 2-/ incorporation into pelvic rudiment from 11-day chick embryos. These data demonstrate that thyroid hormones, like insulin-like growth factor I, might be responsible for the reduced growth rate of dwarf chickens. (author).

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Directory of Open Access Journals (Sweden)

Nurin Aisyiyah Listyasari

2017-06-01

Full Text Available ABSTRACT Background : Disorder of sex development (DSD patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country. Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life. Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and  psychosocial.  Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT meeting was recorded. Results : From the total 617 DSD cases we found 426 cases (69,04 % with 46, XY DSD, 117 cases (18,96% with 46,XX DSD and 74 cases (12% with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU with 256 cases (60.09%. As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%. The remaining cases were Androgen Action Disorder (AAD with 140 cases (32.86%, 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%, Androgen Excess Disorders with 3 cases (2.56%, Defect of Mullerian Development with 19 cases (16,24%, 3 cases (2.56% of Androgen Excess and 3 cases (2.56% of 46, XX Gonadal Dysgenesis. Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of

Sex differences of anxiety disorders: Possible psychobiological causes - Diferencias entre hombres y mujeres en los trastornos de ansiedad: una aproximación psicobiológica

Directory of Open Access Journals (Sweden)

Mª Carmen Arenas

2009-12-01

Full Text Available Anxiety disorders are common in both men and women and are particularly disabling for the sufferer. Women of reproductive age are more vulnerable to developing these mental disorders than men; in fact their prevalence is 2-3 times higher among females than among males. Sex differences have also been reported in relation to the manifestation and expression of symptoms, the will to request medical or psychological assistance, the course of the disease, and even in the response to treatment. These sex differences may be attributable to multiple factors, such as genetic predisposition, anatomy, hormones and environment. However, very little is known about the risk factors for women with respect to developing anxiety disorders, and so the origins of sex differences in these disorders is an important topic of research. We consider that variations in stress reactivity may be one of the mechanisms underlying gender differences in anxiety disorders. The purpose of this brief review is to highlight data on the psychobiological factors that make women more prone to suffering anxiety disorders than men.

The Great Recession and Workers' Health Benefits.

Science.gov (United States)

Koh, Kanghyock

2018-03-01

During a recession, cost-sharing of employer-sponsored health benefits could increase to reduce labor costs in the U.S. Using a variation in the severity of recession shocks across industries, I find evidence that the enrollment rate of high deductible health plans (HDHPs) among workers covered by employer-sponsored health benefits increased more among firms in industries that experienced severe recession shocks. As potential mechanisms, I study employer-side and worker-side mechanisms. I find that employers changed health benefit offerings to force or incentivize workers to enroll in HDHPs. But I find little evidence of an increase in workers' demand for HDHPs due to a reduction in income. These results suggest that the HDHP enrollment rate increased during the Great Recession, as employers tried to save costs of offering health benefits. Copyright © 2018 Elsevier B.V. All rights reserved.

Cost inefficiency under financial strain: a stochastic frontier analysis of hospitals in Washington State through the Great Recession.

Science.gov (United States)

Izón, Germán M; Pardini, Chelsea A

2017-06-01

The importance of increasing cost efficiency for community hospitals in the United States has been underscored by the Great Recession and the ever-changing health care reimbursement environment. Previous studies have shown mixed evidence with regards to the relationship between linking hospitals' reimbursement to quality of care and cost efficiency. Moreover, current evidence suggests that not only inherently financially disadvantaged hospitals (e.g., safety-net providers), but also more financially stable providers, experienced declines to their financial viability throughout the recession. However, little is known about how hospital cost efficiency fared throughout the Great Recession. This study contributes to the literature by using stochastic frontier analysis to analyze cost inefficiency of Washington State hospitals between 2005 and 2012, with controls for patient burden of illness, hospital process of care quality, and hospital outcome quality. The quality measures included in this study function as central measures for the determination of recently implemented pay-for-performance programs. The average estimated level of hospital cost inefficiency before the Great Recession (10.4 %) was lower than it was during the Great Recession (13.5 %) and in its aftermath (14.1 %). Further, the estimated coefficients for summary process of care quality indexes for three health conditions (acute myocardial infarction, pneumonia, and heart failure) suggest that higher quality scores are associated with increased cost inefficiency.

Sex-specific neural activity when resolving cognitive interference in individuals with or without prior internalizing disorders.

Science.gov (United States)

Wang, Zhishun; Jacobs, Rachel H; Marsh, Rachel; Horga, Guillermo; Qiao, Jianping; Warner, Virginia; Weissman, Myrna M; Peterson, Bradley S

2016-03-30

The processing of cognitive interference is a self-regulatory capacity that is impaired in persons with internalizing disorders. This investigation was to assess sex differences in the neural correlates of cognitive interference in individuals with and without an illness history of an internalizing disorder. We compared functional magnetic resonance imaging blood-oxygenation-level-dependent responses in both males (n=63) and females (n=80) with and without this illness history during performance of the Simon task. Females deactivated superior frontal gyrus, inferior parietal lobe, and posterior cingulate cortex to a greater extent than males. Females with a prior history of internalizing disorder also deactivated these regions more compared to males with that history, and they additionally demonstrated greater activation of right inferior frontal gyrus. These group differences were represented in a significant sex-by-illness interaction in these regions. These deactivated regions compose a task-negative or default mode network, whereas the inferior frontal gyrus usually activates when performing an attention-demanding task and is a key component of a task-positive network. Our findings suggest that a prior history of internalizing disorders disproportionately influences functioning of the default mode network and is associated with an accompanying activation of the task-positive network in females during the resolution of cognitive interference. Copyright © 2016. Published by Elsevier Ireland Ltd.

The alexithymic brain: the neural pathways linking alexithymia to physical disorders

Directory of Open Access Journals (Sweden)

Kano Michiko

2013-01-01

Full Text Available Abstract Alexithymia is a personality trait characterized by difficulties in identifying and describing feelings and is associated with psychiatric and psychosomatic disorders. The mechanisms underlying the link between emotional dysregulation and psychosomatic disorders are unclear. Recent progress in neuroimaging has provided important information regarding emotional experience in alexithymia. We have conducted three brain imaging studies on alexithymia, which we describe herein. This article considers the role of emotion in the development of physical symptoms and discusses a possible pathway that we have identified in our neuroimaging studies linking alexithymia with psychosomatic disorders. In terms of socio-affective processing, alexithymics demonstrate lower reactivity in brain regions associated with emotion. Many studies have reported reduced activation in limbic areas (e.g., cingulate cortex, anterior insula, amygdala and the prefrontal cortex when alexithymics attempt to feel other people’s feelings or retrieve their own emotional episodes, compared to nonalexithymics. With respect to primitive emotional reactions such as the response to pain, alexithymics show amplified activity in areas considered to be involved in physical sensation. In addition to greater hormonal arousal responses in alexithymics during visceral pain, increased activity has been reported in the insula, anterior cingulate cortex, and midbrain. Moreover, in complex social situations, alexithymics may not be able to use feelings to guide their behavior appropriately. The Iowa gambling task (IGT was developed to assess decision-making processes based on emotion-guided evaluation. When alexithymics perform the IGT, they fail to learn an advantageous decision-making strategy and show reduced activity in the medial prefrontal cortex, a key area for successful performance of the IGT, and increased activity in the caudate, a region associated with impulsive choice. The

Sex-linked strategies of human reproductive behavior.

Science.gov (United States)

Jaffe, K; Urribarri, D; Chacon, G C; Diaz, G; Torres, A; Herzog, G

1993-01-01

We present data on fertility characteristics in the Venezuelan population for each sex separately, allowing a detailed comparative analysis of the variance in fertility between males and females. We show that the fertility distribution for both sexes is discontinuous, that the average female has a larger number of offspring per individual than the average male, and that highly fertile males outnumber highly fertile females so that the total number of offspring produced by males and females is balanced. Results indicate that a few males are responsible for a relative higher fertility of the average female and that interactions between polyandric females with monogamic and polygynic males are common. Among the Yanomami, a relatively unacculturated hunter-gatherer-horticulturist tribe, similar differences in fertility distribution of both sexes are apparent. The data suggest that human populations contain statistically distinct subpopulations, with different reproductive strategies, suggesting the existence of complex interactions among human populations which are not evident from the study of individuals or groups.

Measurement of the lateral recess angle as a possible alternative for evaluation of the lateral recess stenosis on a CT scan

International Nuclear Information System (INIS)

Strojnik, T.

2001-01-01

Stenosis of the lateral recess in the lumbar spinal canal is a clinical problem, especially in terms of surgical management. Criteria for the diagnosis and surgical treatment of lateral recess stenosis (LRS) are not clearly defined. Several authors have suggested measurement of the lateral recess height (LRH) on computed tomography (CT) scans as a helpful tool for making decisions in regard of management. The present study is based an the assumption that measurement of the lateral recess angle (LRA) may be useful in the clinical management of lateral recess stenosis. The reliability and significance of the results have been analyzed. In 35 patients, the stenosis was confirmed by intraoperative measurement of the lateral recess height. Fifty-three affected lateral recesses were analyzed. Before surgery, the heights on CT scans were measured. The mean value was 3.3 mm (SD = 0.9 mm), while 41 of them were 3.6 mm or less. Furthermore, the angles on CT scans were evaluated. The mean value was 25.9 degrees (SD = 4.9 degrees), 48 of them were 30 degrees or less and only 5 of them achieved more than 30 degrees. Results reveal that the best quantitative determination of a lateral recess stenosis is a CT scan angle measurement with a critical value of 30 degrees. A CT scan height of 3.6 mm or less is also indicative of stenosis. Statistical evaluation of the data by multiple regression analysis revealed agreement between intraoperative findings and measured heights (p = 0.02), while even better results were noted for angles (p < 0.01). Interfacet distance (IF) was found to be least predictive (p = 0.04). (author)

Fetal sex determination in the first trimester of pregnancy using a Y chromosome-specific DNA probe

Energy Technology Data Exchange (ETDEWEB)

Zeng, Y.; Huang, S.; Chen, M.; Huang, Y.; Zhang, M.; Dong, J.; Ku, A.; Xu, S.

1987-05-01

Prenatal determination of fetal sex is important for the prevention of X-linked disorders such as hemophilia, Lesch-Nyhan syndrome and Duchenne muscular dystrophy. The complex procedures of prenatal diagnosis for X-linked disorders are unnecessary if the fetus is female, because usually no clinical symptoms ever appear in female. pY 3.4 probe used in this work for sex determination is a 3.4 kilobase human repeat sequence. The probe is specific for the Y chromosome of males and can be used for sex determination. The other prove pBLUR used in this paper as control is a widely dispersed, highly repeated human Alu family DNA sequence, represented equally in male and female DNA. On the basis of the relative densities of the autoradiographic spots produced by hybridization of fetal DNA with pY3.4 and pBLUR, the sex of fetus can be clearly identified. Further the authors can determine the radioactive intensity (cpm) of the hybridized DNA spots and the ratio of hybridization with Y3.4 to pBLUR (Y3.4/pBLUR x 10). Results show that the hybridization ratio of DNA from chorionic villi of male (1.03 +/- 0.24) is significantly higher than that of female (0.16 +/- 0.09). Therefore, sex determination of the fetus can be made, based on the ratio of pY3.4/pBLUR x 10. If necessary they can also use Southern hybridization with pY 3.4 probe of DNA isolated from chorionic villi to confirm the result of dot hybridization.

Recessed floating pier caps for highway bridges.

Science.gov (United States)

1973-01-01

Presented are alternate designs for two existing bridges in Virginia - one with steel beams and the other with prestressed concrete beams - whereby the pier caps are recessed within the depth of the longitudinal beams. The purpose of this recession i...

A natural experimental study of the protective effect of home ownership on household food insecurity in Canada before and after a recession (2008-2009).

Science.gov (United States)

McIntyre, Lynn; Wu, Xiuyun; Kwok, Cynthia; Emery, J C Herbert

2017-06-16

Home ownership as opposed to renting is associated with lower rates of food insecurity, the latter being a marker of household economic deprivation associated with adverse health outcomes. It is unclear whether this relationship persists during a major economic decline, or whether different subgroups of home owners are equally protected. The 2008-2009 recession in Canada was tied to events in the United States related to inappropriate mortgage financing; the impact of the recession on food insecurity among home owners may identify policies to mitigate recessionary outcomes. We used a before-and-after natural experimental design using data from the Canadian Community Health Survey (CCHS) cycles 2007/2008 (pre-recession) and 2009/2010 (post-recession) with information on household food insecurity, home ownership versus renting, and socio-demographics. Applying multivariable logistic regression, we examined changes in household food insecurity by housing tenure and sex over the period. Pre-recession, food insecurity affected 3.3% of home owners and 17.1% of renter households. Among home owners, the risk of food insecurity increased post-recession by 10%, which was not statistically significant. Post-recession, and with adjustment, although renters' higher absolute risk of food insecurity persisted, male-respondent home owners experienced the highest rate of increase in food insecurity prevalence by subgroup (OR = 1.26, 95% CI: 1.06-1.50) versus renters (OR = 1.17, 95% CI: 1.05-1.29). Housing policies in Canada protected most home owners from precarity during the 2008-2009 economic recession; however, male-respondent home owners exhibited a unique economic vulnerability during this time. Implications of Canadian home ownership policies are discussed in light of differential vulnerability of home owner groups.

Bone Collagen: New Clues to its Mineralization Mechanism From Recessive Osteogenesis Imperfecta

Science.gov (United States)

Eyre, David R.; Ann Weis, Mary

2013-01-01

Until 2006 the only mutations known to cause osteogenesis imperfecta (OI) were in the two genes coding for type I collagen chains. These dominant mutations affecting the expression or primary sequence of collagen α1(I) and α2(I) chains account for over 90% of OI cases. Since then a growing list of mutant genes causing the 5–10% of recessive cases has rapidly emerged. They include CRTAP, LEPRE1 and PPIB, which encode three proteins forming the prolyl 3-hydroxylase complex; PLOD2 and FKBP10, which encode respectively lysyl hydroxylase 2 and a foldase required for its activity in forming mature cross-links in bone collagen; SERPIN H1, which encodes the collagen chaperone HSP47; SERPIN F1, which encodes pigment epithelium-derived factor required for osteoid mineralization; and BMP1, which encodes the type I procollagen C-propeptidase. All cause fragile bone in infancy, which can include over-mineralization or under-mineralization defects as well as abnormal collagen post-translational modifications. Consistently both dominant and recessive variants lead to abnormal cross-linking chemistry in bone collagen. These recent discoveries strengthen the potential for a common pathogenic mechanism of misassembled collagen fibrils. Of the new genes identified, eight encode proteins required for collagen post-translational modification, chaperoning of newly synthesized collagen chains into native molecules or transport through the endoplasmic reticulum and Golgi for polymerization, cross-linking and mineralization. In reviewing these findings, we conclude that a common theme is emerging in the pathogenesis of brittle bone disease of mishandled collagen assembly with important insights on post-translational features of bone collagen that have evolved to optimize it as a biomineral template. PMID:23508630

Voice Disorder in Cystic Fibrosis Patients

Science.gov (United States)

Lourenço, Bruna Mendes; Costa, Kauê Machado; da Silva Filho, Manoel

2014-01-01

Cystic fibrosis is a common autosomal recessive disorder with drastic respiratory symptoms, including shortness of breath and chronic cough. While most of cystic fibrosis treatment is dedicated to mitigating the effects of respiratory dysfunction, the potential effects of this disease on vocal parameters have not been systematically studied. We hypothesized that cystic fibrosis patients, given their characteristic respiratory disorders, would also present dysphonic symptoms. Given that voice disorders can severely impair quality of life, the identification of a potential cystic fibrosis-related dysphonia could be of great value for the clinical evaluation and treatment of this disease. We tested our hypothesis by measuring vocal parameters, using both objective physical measures and the GRBAS subjective evaluation method, in male and female cystic fibrosis patients undergoing conventional treatment and compared them to age and sex matched controls. We found that cystic fibrosis patients had a significantly lower vocal intensity and harmonic to noise ratio, as well as increased levels of jitter and shimmer. In addition, cystic fibrosis patients also showed higher scores of roughness, breathiness and asthenia, as well as a significantly altered general grade of dysphonia. When we segregated the results according to sex, we observed that, as a group, only female cystic fibrosis patients had significantly lower values of harmonic to noise ratio and an abnormal general grade of dysphonia in relation to matched controls, suggesting that cystic fibrosis exerts a more pronounced effect on vocal parameters of women in relation to men. Overall, the dysphonic characteristics of CF patients can be explained by dysfunctions in vocal fold movement and partial upper airway obstruction, potentially caused by the accumulation of mucus and chronic cough characteristic of CF symptomatology. Our results show that CF patients exhibit significant dysphonia and suggest they may

SEX-DETector: A Probabilistic Approach to Study Sex Chromosomes in Non-Model Organisms

Science.gov (United States)

Muyle, Aline; Käfer, Jos; Zemp, Niklaus; Mousset, Sylvain; Picard, Franck; Marais, Gabriel AB

2016-01-01

We propose a probabilistic framework to infer autosomal and sex-linked genes from RNA-seq data of a cross for any sex chromosome type (XY, ZW, and UV). Sex chromosomes (especially the non-recombining and repeat-dense Y, W, U, and V) are notoriously difficult to sequence. Strategies have been developed to obtain partially assembled sex chromosome sequences. Most of them remain difficult to apply to numerous non-model organisms, either because they require a reference genome, or because they are designed for evolutionarily old systems. Sequencing a cross (parents and progeny) by RNA-seq to study the segregation of alleles and infer sex-linked genes is a cost-efficient strategy, which also provides expression level estimates. However, the lack of a proper statistical framework has limited a broader application of this approach. Tests on empirical Silene data show that our method identifies 20–35% more sex-linked genes than existing pipelines, while making reliable inferences for downstream analyses. Approximately 12 individuals are needed for optimal results based on simulations. For species with an unknown sex-determination system, the method can assess the presence and type (XY vs. ZW) of sex chromosomes through a model comparison strategy. The method is particularly well optimized for sex chromosomes of young or intermediate age, which are expected in thousands of yet unstudied lineages. Any organisms, including non-model ones for which nothing is known a priori, that can be bred in the lab, are suitable for our method. SEX-DETector and its implementation in a Galaxy workflow are made freely available. PMID:27492231

Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder.

Science.gov (United States)

Coretti, Lorena; Cristiano, Claudia; Florio, Ermanno; Scala, Giovanni; Lama, Adriano; Keller, Simona; Cuomo, Mariella; Russo, Roberto; Pero, Raffaela; Paciello, Orlando; Mattace Raso, Giuseppina; Meli, Rosaria; Cocozza, Sergio; Calignano, Antonio; Chiariotti, Lorenzo; Lembo, Francesca

2017-03-28

Alterations of microbiota-gut-brain axis have been invoked in the pathogenesis of autism spectrum disorders (ASD). Mouse models could represent an excellent tool to understand how gut dysbiosis and related alterations may contribute to autistic phenotype. In this study we paralleled gut microbiota (GM) profiles, behavioral characteristics, intestinal integrity and immunological features of colon tissues in BTBR T + tf/J (BTBR) inbred mice, a well established animal model of ASD. Sex differences, up to date poorly investigated in animal models, were specifically addressed. Results showed that BTBR mice of both sexes presented a marked intestinal dysbiosis, alterations of behavior, gut permeability and immunological state with respect to prosocial C57BL/6j (C57) strain. Noticeably, sex-related differences were clearly detected. We identified Bacteroides, Parabacteroides, Sutterella, Dehalobacterium and Oscillospira genera as key drivers of sex-specific gut microbiota profiles associated with selected pathological traits. Taken together, our findings indicate that alteration of GM in BTBR mice shows relevant sex-associated differences and supports the use of BTBR mouse model to dissect autism associated microbiota-gut-brain axis alteration.

Sex difference in mecp2 expression during a critical period of rat brain development.

Science.gov (United States)

Kurian, Joseph R; Forbes-Lorman, Robin M; Auger, Anthony P

2007-09-01

Pervasive developmental disorder is a classification covering five related conditions including the neurodevelopmental disorder Rett syndrome (RTT) and autism. Of these five conditions, only RTT has a known genetic cause with mutations in Methyl-CpG-binding protein 2 (MeCP2), a global repressor of gene expression, responsible for the majority of RTT cases. However, recent evidence indicates that reduced MeCP2 expression or activity is also found in autism and other disorders with overlapping phenotypes. Considering the sex difference in autism diagnosis, with males diagnosed four times more often than females, we questioned if a sex difference existed in the expression of MeCP2, in particular within the amygdala, a region that develops atypically in autism. We found that male rats express significantly less mecp2 mRNA and protein than females within the amygdala, as well as the ventromedial hypothalamus (VMH), but not within the preoptic area (POA) on post-natal day 1 (PN1). At PN10 these differences were gone; however, on this day males had more mecp2 mRNA than females within the POA. The transient sex difference of mecp2 expression during the steroid-sensitive period of brain development suggests that mecp2 may participate in normal sexual differentiation of the rat brain. Considering the strong link between MeCP2 and neurodevelopmental disorders, the lower levels of mecp2 expression in males may also underlie a biological risk for mecp2-related neural disorders.

Sex- and Subtype-Related Differences of Personality Disorders (Axis II) and Personality Traits in Persistent ADHD.

Science.gov (United States)

Jacob, Christian P; Gross-Lesch, Silke; Reichert, Susanne; Geissler, Julia; Jans, Thomas; Kittel-Schneider, Sarah; Nguyen, Trang T; Romanos, Marcel; Reif, Andreas; Dempfle, Astrid; Lesch, Klaus-Peter

2016-12-01

Despite growing awareness of adult ADHD and its comorbidity with personality disorders (PDs), little is known about sex- and subtype-related differences. In all, 910 patients (452 females, 458 males) affected with persistent adult ADHD were assessed for comorbid PDs with the Structured Clinical Interview of DSM-IV and for personality traits with the revised NEO personality inventory, and the Tridimensional Personality Questionnaire. The most prevalent PDs were narcissistic PD in males and histrionic PD in females. Affected females showed higher Neuroticism, Openness to Experience, and Agreeableness scores as well as Harm Avoidance and Reward Dependence scores. Narcissistic PD and antisocial PD have the highest prevalence in the H-type, while Borderline PD is more frequent in the C-type. Sex- and subtype-related differences in Axis II disorder comorbidity as well as impairment-modifying personality traits have to be taken into account in epidemiological studies of persistent ADHD. © The Author(s) 2014.

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Science.gov (United States)

Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas

2013-03-07

Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

Directory of Open Access Journals (Sweden)

E. L. Dadali

2017-01-01

Full Text Available Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6 patients (4 men, 2 women aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1 has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia. 

Hospital Capital Investment During the Great Recession.

Science.gov (United States)

Choi, Sung

2017-01-01

Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal.

Hospital Capital Investment During the Great Recession

Science.gov (United States)

Choi, Sung

2017-01-01

Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal. PMID:28617202

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

Science.gov (United States)

Isasawin, Siriwan; Aketarawong, Nidchaya; Lertsiri, Sittiwat; Thanaphum, Sujinda

2014-01-01

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. 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. Introgression of sex sorting components from the Salaya1 strain to a closely related B. carambolae

Comparison of results of medial rectus muscle recession using augmentation, Faden procedure, and slanted recession in the treatment of high accommodative convergence/accommodation ratio esotropia.

Science.gov (United States)

Gharabaghi, Davoud; Zanjani, Leila Kazemi

2006-01-01

According to the literature, accommodative esotropia has an unpredictable course when nonsurgical treatment is considered, especially in cases with a high accommodative convergence/accommodation ratio (AC/A). The aim of this study was to compare the results of augmented recession, slanted recession, and recession with posterior fixation suture of the medial rectus muscles in the treatment of high AC/A esotropia. Twenty-eight children (4 to 14 years old) with high AC/A esotropia with a near-distance disparity greater than 10 PD were included in a prospective, randomized, blinded clinical trial. Nine children underwent recession of both medial rectus muscles and posterior fixation suture (Faden procedure), 9 children underwent augmented recession of the medial rectus muscles, and 10 children underwent slanted recession of both medial rectus muscles. The amount of esodeviation was measured before strabismus surgery and at least 6 months postoperatively. In the augmented recession group, the mean near-distance disparity was reduced from 16.33 +/- 2.17 PD preoperatively to 7.55 +/- 3.87 PD postoperatively (54.21%; P = .056). In the Faden procedure group, it was reduced from 15.22 +/- 4.08 PD to 2.55 +/- 4.03 PD (80.7%; P = .056). In the slanted recession group, it was reduced from 15.50 +/- 4.30 PD to 4.10 +/- 4.80 PD (67.55%; P = .056). The Faden procedure had the best outcome, but slanted recession also was successful. Because of our good results and an easy, non-invasive approach without any additional complications, we recommend slanted recession to treat high AC/A esotropia.

Evidence for mito-nuclear and sex-linked reproductive barriers between the hybrid Italian sparrow and its parent species.

Directory of Open Access Journals (Sweden)

Cassandra N Trier

2014-01-01

Full Text Available Studies of reproductive isolation between homoploid hybrid species and their parent species have rarely been carried out. Here we investigate reproductive barriers between a recently recognized hybrid bird species, the Italian sparrow Passer italiae and its parent species, the house sparrow P. domesticus and Spanish sparrow P. hispaniolensis. Reproductive barriers can be difficult to study in hybrid species due to lack of geographical contact between taxa. However, the Italian sparrow lives parapatrically with the house sparrow and both sympatrically and parapatrically with the Spanish sparrow. Through whole-transcriptome sequencing of six individuals of each of the two parent species we identified a set of putatively parent species-diagnostic single nucleotide polymorphism (SNP markers. After filtering for coverage, genotyping success (>97% and multiple SNPs per gene, we retained 86 species-informative, genic, nuclear and mitochondrial SNP markers from 84 genes for analysis of 612 male individuals. We show that a disproportionately large number of sex-linked genes, as well as the mitochondria and nuclear genes with mitochondrial function, exhibit sharp clines at the boundaries between the hybrid and the parent species, suggesting a role for mito-nuclear and sex-linked incompatibilities in forming reproductive barriers. We suggest that genomic conflict via interactions between mitochondria and sex-linked genes with mitochondrial function ("mother's curse" at one boundary and centromeric drive at the other may best explain our findings. Hybrid speciation in the Italian sparrow may therefore be influenced by mechanisms similar to those involved in non-hybrid speciation, but with the formation of two geographically separated species boundaries instead of one. Spanish sparrow alleles at some loci have spread north to form reproductive barriers with house sparrows, while house sparrow alleles at different loci, including some on the same chromosome

Short-term effects of the 2008 Great Recession on the health of the Italian population: an ecological study.

Science.gov (United States)

Mattei, Giorgio; Ferrari, Silvia; Pingani, Luca; Rigatelli, Marco

2014-06-01

To report on the effects on health that the 2008 Great Recession is producing in Italy, by comparing the consistency of Italian data with general observations reported in the scientific literature, and by pointing out consequences on the rates of all-cause mortality, cardiovascular mortality, male suicidal behaviours, daytime alcohol drinking and traffic fatalities. This is an ecological study in which MEDLINE, PsycINFO and PubMed were searched for the literature with combinations of the following keywords: economic recession, financial crisis, unemployment, health, suicide and mental health. Data from two Italian government agencies (Italian Institute of Statistics, ISTAT, and Italian Agency of Drugs, AIFA) in the years from 2000 to 2010 were obtained and analysed, by producing models of multiple linear regressions. After the recession onset, all-cause mortality remained stable, and was not associated with the economic fluctuations. Differently, cardiovascular mortality was associated with the rate of unemployment, and showed a significant increase in 2010. Alcohol consumption increased in 2009, the year with the worst real GDP decrease (-5.1 %). Though the total rate of suicide was not associated with the economic situation, male completed and attempted suicides due to financial crisis were significantly associated with the rate of unemployment and the real GDP. The increasing diffusion of antidepressants was not associated with a lowering of the rate of suicide. The data on the Italian situation here discussed are sufficiently reliable to conclude that a link exists between the ongoing economic recession and health and mental health of Italians. Further research is needed to understand more in detail and with stronger reliability such link, to support primary and secondary preventive interventions and orient the development of effective sociopolitical interventions.

Gender specific issues in hereditary ocular disorders.

Science.gov (United States)

Iragavarapu, Saradha; Gorin, Michael B

2015-02-01

This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these

Systems biological approach to investigate the lack of familial link between Down's Syndrome & Neural Tube Disorders.

Science.gov (United States)

Ragunath, Pk; Abhinand, Pa

2013-01-01

Systems Biology involves the study of the interactions of biological systems and ultimately their functions. Down's syndrome (DS) is one of the most common genetic disorders which are caused by complete, or occasionally partial, triplication of chromosome 21, characterized by cognitive and language dysfunction coupled with sensory and neuromotor deficits. Neural Tube Disorders (NTDs) are a group of congenital malformations of the central nervous system and neighboring structures related to defective neural tube closure during the first trimester of pregnancy usually occurring between days 18-29 of gestation. Several studies in the past have provided considerable evidence that abnormal folate and methyl metabolism are associated with onset of DS & NTDs. There is a possible common etiological pathway for both NTDs and Down's syndrome. But, various research studies over the years have indicated very little evidence for familial link between the two disorders. Our research aimed at the gene expression profiling of microarray datasets pertaining to the two disorders to identify genes whose expression levels are significantly altered in these conditions. The genes which were 1.5 fold unregulated and having a p-value disorders were recognized and over representation analysis was carried out for each of the constituent genes. The comprehensive manual analysis of these genes yields a hypothetical understanding of the lack of familial link between DS and NTDs. There were no genes involved with folic acid present in the dense cliques. Only - CBL, EGFR genes were commonly present, which makes the allelic variants of these genes - good candidates for future studies regarding the familial link between DS and NTDs. NTD - Neural Tube Disorders, DS - Down's Syndrome, MTHFR - Methylenetetrahydrofolate reductase, MTRR- 5 - methyltetrahydrofolate-homocysteine methyltransferase reductase.

Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant

Science.gov (United States)

2017-07-12

Adenosine Deaminase Deficiency; Autosomal Recessive Disorder; Immune System Disorder; Purine-Nucleoside Phosphorylase Deficiency; Severe Combined Immunodeficiency; Severe Combined Immunodeficiency With Absence of T and B Cells; X-Linked Severe Combined Immunodeficiency

Intrinsic disorder in Viral Proteins Genome-Linked: experimental and predictive analyses

Directory of Open Access Journals (Sweden)

Van Dorsselaer Alain

2009-02-01

Full Text Available Abstract Background VPgs are viral proteins linked to the 5' end of some viral genomes. Interactions between several VPgs and eukaryotic translation initiation factors eIF4Es are critical for plant infection. However, VPgs are not restricted to phytoviruses, being also involved in genome replication and protein translation of several animal viruses. To date, structural data are still limited to small picornaviral VPgs. Recently three phytoviral VPgs were shown to be natively unfolded proteins. Results In this paper, we report the bacterial expression, purification and biochemical characterization of two phytoviral VPgs, namely the VPgs of Rice yellow mottle virus (RYMV, genus Sobemovirus and Lettuce mosaic virus (LMV, genus Potyvirus. Using far-UV circular dichroism and size exclusion chromatography, we show that RYMV and LMV VPgs are predominantly or partly unstructured in solution, respectively. Using several disorder predictors, we show that both proteins are predicted to possess disordered regions. We next extend theses results to 14 VPgs representative of the viral diversity. Disordered regions were predicted in all VPg sequences whatever the genus and the family. Conclusion Based on these results, we propose that intrinsic disorder is a common feature of VPgs. The functional role of intrinsic disorder is discussed in light of the biological roles of VPgs.

The Great Recession, Adolescent Smoking, and Smoking Inequalities: What Role Does Youth Unemployment Play in 24 European Countries?

Science.gov (United States)

Rathmann, Katharina; Pförtner, Timo-Kolja; Elgar, Frank J; Hurrelmann, Klaus; Richter, Matthias

2017-11-01

Conflicting evidence has been reported on smoking behavior among adults during times of economic downturn. No study has yet investigated young people's smoking and inequalities in smoking during economic recessions. This study examines the association between country-level youth unemployment due to the economic recession and adolescent smoking and smoking inequalities in Europe. The WHO collaborative "Health Behaviour in School-aged Children" study in 2009/2010 included 15-year-old adolescents from 24 European countries (N = 43 093). Socioeconomic position (SEP) was measured by the Family Affluence Scale. Logistic multilevel models were conducted. The absolute rate of youth unemployment in 2010 (during the recession) and the relative change rate in youth unemployment (2005/2006-2009/2010) were regressed on smoking and SEP inequalities in smoking in 2010, respectively. Youth unemployment rates were not significantly associated with overall smoking in adolescents. A higher absolute youth unemployment rate in 2010 related to lower likelihoods of smoking among middle (OR: 0.99; 95% CI: 0.98-0.99) and low affluent adolescents (OR: 0.99; 95% CI: 0.98-0.99) compared to high affluent adolescents. In contrast, an increase in youth unemployment (2005/2006-2009/2010) was not associated with overall likelihoods of smoking and inequalities in smoking. Our findings indicate that an increase in youth unemployment was not related to smoking and smoking inequalities. However, higher absolute levels of youth unemployment are related to lower likelihoods of smoking in lower SEP adolescents. Thus, smoking among vulnerable groups is more linked to the overall insecure circumstances and the affordability of cigarettes rather than to the economic recession itself. Economic recessions have often led to increases in adult and youth unemployment rates. Conflicting evidence has been reported on smoking behavior among adults during times of economic downturn. This study examines for the first

State Government Revenue Recovery from the Great Recession

OpenAIRE

James Alm; David L. Sjoquist

2014-01-01

The "Great Recession" lasted from December 2007 to June 2009, and it wreaked havoc on the revenues of state (and local) governments. While the U.S. economy has improved since the end of the Great Recession, state government revenues have in most cases still not completely recovered. We use various indicators to measure how different states have -- or have not -- recovered in the aftermath of the Great Recession, and we also attempt to explain why these different patterns of recovery have emer...

Development of Web-Based RECESS Model for Estimating Baseflow Using SWAT

Directory of Open Access Journals (Sweden)

Gwanjae Lee

2014-04-01

Full Text Available Groundwater has received increasing attention as an important strategic water resource for adaptation to climate change. In this regard, the separation of baseflow from streamflow and the analysis of recession curves make a significant contribution to integrated river basin management. The United States Geological Survey (USGS RECESS model adopting the master-recession curve (MRC method can enhance the accuracy with which baseflow may be separated from streamflow, compared to other baseflow-separation schemes that are more limited in their ability to reflect various watershed/aquifer characteristics. The RECESS model has been widely used for the analysis of hydrographs, but the applications using RECESS were only available through Microsoft-Disk Operating System (MS-DOS. Thus, this study aims to develop a web-based RECESS model for easy separation of baseflow from streamflow, with easy applications for ungauged regions. RECESS on the web derived the alpha factor, which is a baseflow recession constant in the Soil Water Assessment Tool (SWAT, and this variable was provided to SWAT as the input. The results showed that the alpha factor estimated from the web-based RECESS model improved the predictions of streamflow and recession. Furthermore, these findings showed that the baseflow characteristics of the ungauged watersheds were influenced by the land use and slope angle of watersheds, as well as by precipitation and streamflow.

Emotion (Dys)regulation and Links to Depressive Disorders

Science.gov (United States)

Kovacs, Maria; Joormann, Jutta; Gotlib, Ian H.

2010-01-01

Clinical depression is a significant mental health problem that is associated with personal suffering and impaired functioning. These effects underscore the continuing need for new approaches that can inform researchers and clinicians when designing interventions. We propose that individual differences in the self-regulation of sadness and distress provide an important link between stress, depressed mood, and the onset of depressive disorder, and that if we have a better understanding of the ways children successfully manage negative emotions, we can better prevent and treat pediatric depression. In this article, we therefore examine the normative development of responses that children use to attenuate sadness, and aspects of the neurobiological infrastructure that both enable and constrain such self-regulatory efforts. We also address the emerging literature on affect regulation among children at familial risk for depressive disorders. We conclude that problems with adaptively self-regulating sadness and distress represent one pathway that can lead to juvenile-onset depression. And we need integrated, developmental studies of the psychosocial and neurobiological aspects of self-regulatory responses to sadness and distress in order to better understand this process, and to design age-sensitive intervention strategies for pediatric depression. PMID:20721304

Differences in Work-Related Adverse Events by Sex and Industry in Cases Involving Compensation for Mental Disorders and Suicide in Japan From 2010 to 2014.

Science.gov (United States)

Yamauchi, Takashi; Sasaki, Takeshi; Yoshikawa, Toru; Matsumoto, Shun; Takahashi, Masaya; Suka, Machi; Yanagisawa, Hiroyuki

2018-04-01

This study aimed to clarify whether work-related adverse events in cases involving compensation for mental disorders and suicide differ by sex and industry using a database containing all relevant cases reported from 2010 to 2014 in Japan. A total of 1362 eligible cases involving compensation for mental disorders (422 females and 940 males) were analyzed. Among males, 55.7% of cases were attributed to "long working hours." In both sexes, the frequencies of cases attributed to "long working hours" and other events differed significantly by industry. Among cases involving compensation for suicide, 71.4% were attributed to "long working hours." The frequency distribution of work-related adverse events differed significantly by sex and industry. These differences should be taken into consideration in the development of industry-specific preventive measures for occupational mental disorders.

Genomic regions associated with the sex-linked inhibitor of dermal melanin in Silkie chicken

Directory of Open Access Journals (Sweden)

Ming TIAN,Rui HAO,Suyun FANG,Yanqiang WANG,Xiaorong GU,Chungang FENG,Xiaoxiang HU,Ning LI

2014-09-01

Full Text Available A unique characteristic of the Silkie chicken is its fibromelanosis phenotype. The dermal layer of its skin, its connective tissue and shank dermis are hyperpigmented. This dermal hyperpigmentation phenotype is controlled by the sex-linked inhibitor of dermal melanin gene (ID and the dominant fibromelanosis allele. This study attempted to confirm the genomic region associated with ID. By genotyping, ID was found to be closely linked to the region between GGA_rs16127903 and GGA_rs14685542 (8406919 bp on chromosome Z, which contains ten functional genes. The expression of these genes was characterized in the embryo and 4 days after hatching and it was concluded that MTAP, encoding methylthioadenosinephosphorylase, would be the most likely candidate gene. Finally, target DNA capture and sequence analysis was performed, but no specific SNP(s was found in the targeted region of the Silkie genome. Further work is necessary to identify the causal ID mutation located on chromosome Z.

Integrative Analyses of miRNA-mRNA Interactions Reveal let-7b, miR-128 and MAPK Pathway Involvement in Muscle Mass Loss in Sex-Linked Dwarf Chickens

Science.gov (United States)

Luo, Wen; Lin, Shumao; Li, Guihuan; Nie, Qinghua; Zhang, Xiquan

2016-01-01

The sex-linked dwarf (SLD) chicken is an ideal model system for understanding growth hormone (GH)-action and growth hormone receptor (GHR) function because of its recessive mutation in the GHR gene. Skeletal muscle mass is reduced in the SLD chicken with a smaller muscle fiber diameter. Our previous study has presented the mRNA and miRNA expression profiles of the SLD chicken and normal chicken between embryo day 14 and seven weeks of age. However, the molecular mechanism of GHR-deficient induced muscle mass loss is still unclear, and the key molecules and pathways underlying the GHR-deficient induced muscle mass loss also remain to be illustrated. Here, by functional network analysis of the differentially expressed miRNAs and mRNAs between the SLD and normal chickens, we revealed that let-7b, miR-128 and the MAPK pathway might play key roles in the GHR-deficient induced muscle mass loss, and that the reduced cell division and growth are potential cellular processes during the SLD chicken skeletal muscle development. Additionally, we also found some genes and miRNAs involved in chicken skeletal muscle development, through the MAPK, PI3K-Akt, Wnt and Insulin signaling pathways. This study provides new insights into the molecular mechanism underlying muscle mass loss in the SLD chickens, and some regulatory networks that are crucial for chicken skeletal muscle development. PMID:26927061

X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

Directory of Open Access Journals (Sweden)

Janchevska A.

2014-12-01

Full Text Available Nephrogenic diabetes insipidus (NDI is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP/antidiuretic hormone (ADH. We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS] and height (+0.15 SDS for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC286Leu(CTC] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.

40 CFR 798.5275 - Sex-linked recessive lethal test in drosophila melanogaster.

Science.gov (United States)

2010-07-01

...) Control groups—(i) Concurrent controls. Concurrent positive and negative (vehicle) controls shall be... the negative (vehicle) control group shall be determined by the availability of appropriate laboratory... individually to an appropriate number of virgin females from the Muller-5 stock or females from another...

The Great Recession and America’s Geography of Unemployment

Science.gov (United States)

Thiede, Brian C.; Monnat, Shannon M.

2017-01-01

Background The Great Recession of 2007–2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. Contribution To present new estimates of the recession’s impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession

Sex differences in the mediators of functional disability in Major Depressive Disorder.

Science.gov (United States)

Carmona, Nicole E; Subramaniapillai, Mehala; Mansur, Rodrigo B; Cha, Danielle S; Lee, Yena; Fus, Dominika; McIntyre, Roger S

2018-01-01

The aim of this study was to investigate sex differences in discrete domains of psychopathology as mediators of functional disability among individuals with Major Depressive Disorder (MDD). Adults (ages 18-65) with moderate-to-severe MDD (n = 100) and age-, sex-, and education-matched healthy controls (HC; n = 100) participated in a clinical trial validating the THINC-integrated tool, a newly developed cognitive assessment tool for patients with MDD. Variables assessed as possible mediators included depression symptom severity, anxiety symptoms, sleep disturbance, perceived cognitive deficits, and objective cognitive performance. Functional disability was assessed using the total score on the Sheehan Disability Scale. Separate mediation analyses were conducted for men and women. No significant differences were detected between men and women on the assessed domains of psychopathology or functional disability (ps > 0.05). However, the mediation analyses demonstrated different patterns with respect to determinants of functional disability in MDD between men and women. Functional disability was mediated by anxiety (95% CI: -3.17, -0.28) and sleep disturbance (95% CI: -0.69, -0.05) among men and by depressive symptom severity (95% CI: -7.82, -0.32) among women. These preliminary results instantiate the need to dimensionalize psychopathology in MDD. Our results at least in part support the hypothesis that, consistent with the sex differences in the prevalence and illness presentation of MDD, determinants of functional outcomes also differ between men and women, underscoring the need to consider sex differences in order to improve functional outcomes in the treatment of MDD. Copyright © 2017. Published by Elsevier Ltd.

Effects of combined gate and ohmic recess on GaN HEMTs

Directory of Open Access Journals (Sweden)

Sunil Kumar

2016-09-01

Full Text Available AlGaN/GaN, because of their superior material properties, are most suitable semiconductor material for High Electron Mobility Transistors (HEMTs. In this work we investigated the hidden physics behind these materials and studied the effect of recess technology in AlGaN/GaN HEMTs. The device under investigation is simulated for different recess depth using Silvaco-Atlas TCAD. Recess technology improves the performance of AlGaN/GaN HEMTs. We considered three kinds of recess technology gate, ohmic and combination of gate and ohmic. Gate recess improves transconductance gm but it reduces the drain current Id of the device under investigation. Ohmic recess improves the transconductance gm but it introduces leakage current Ig in the device. In order to use AlGaN/GaN for high voltage operation, both the transconductance and the drain current should be reasonably high which is obtained by combining both gate and ohmic recess technologies. A good balance in transconductance and drain current is achieved by combining both gate and ohmic recess technologies without any leakage current.

Biology and genetics of oculocutaneous albinism and vitiligo ...

African Journals Online (AJOL)

Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to ...

Population health and the economy: Mortality and the Great Recession in Europe.

Science.gov (United States)

Tapia Granados, José A; Ionides, Edward L

2017-12-01

We analyze the evolution of mortality-based health indicators in 27 European countries before and after the start of the Great Recession. We find that in the countries where the crisis has been particularly severe, mortality reductions in 2007-2010 were considerably bigger than in 2004-2007. Panel models adjusted for space-invariant and time-invariant factors show that an increase of 1 percentage point in the national unemployment rate is associated with a reduction of 0.5% (p rate of age-adjusted mortality. The pattern of mortality oscillating procyclically is found for total and sex-specific mortality, cause-specific mortality due to major causes of death, and mortality for ages 30-44 and 75 and over, but not for ages 0-14. Suicides appear increasing when the economy decelerates-countercyclically-but the evidence is weak. Results are robust to using different weights in the regression, applying nonlinear methods for detrending, expanding the sample, and using as business cycle indicator gross domestic product per capita or employment-to-population ratios rather than the unemployment rate. We conclude that in the European experience of the past 20 years, recessions, on average, have beneficial short-term effects on mortality of the adult population. Copyright © 2017 John Wiley & Sons, Ltd.

Predicting the probability of recession in Croatia:Is economic sentiment the missing link?

Directory of Open Access Journals (Sweden)

Nataša Erjavec

2016-12-01

Full Text Available This paper aims to assess the possibility of predicting Croatian recessionary episodes using probit models. The authors first estimate a baseline static model using four leading indicators of recession (monetary base, unemployment, industrial production, and CROBEX stock market index. Lag lengths of up to 6 months are examined for each of the observed variables in the probit specification, and several important conclusions arise from the estimated models. First, the stock market and money supply exhibit the most pronounced leading characteristics in the Croatian economy (a 3-month lag length is selected by the information criteria. Second, the dynamic model (including a lagged dependent dummy variable significantly outperforms the baseline static model. Third, the authors augment the probit model by the Economic Sentiment Indicator, which significantly contributes to the model accuracy. The latter confirms the main hypothesis of the paper, going in line with the assertion that psychological factors largely govern the economic cycles, growing in significance in times of economic hardship.

Autism Spectrum Disorders (ASD) in Blind Children: Very High Prevalence, Potentially Better Outlook

Science.gov (United States)

Jure, Rubin; Pogonza, Ramón; Rapin, Isabelle

2016-01-01

Autism spectrum disorders affected 19 of 38 unselected children at a school for the blind in Cordoba, Argentina. Autism was linked to total congenital blindness, not blindness' etiology, acquired or incomplete blindness, sex, overt brain damage, or socioeconomic status. Autism "recovery," had occurred in 4 verbal children. Congenital…

Sensitivity of the prefrontal GABAergic system to chronic stress in male and female mice: Relevance for sex differences in stress-related disorders.

Science.gov (United States)

Shepard, Ryan; Page, Chloe E; Coutellier, Laurence

2016-09-22

Stress-induced modifications of the prefrontal cortex (PFC) are believed to contribute to the onset of mood disorders, such as depression and anxiety, which are more prevalent in women. In depression, the PFC is hypoactive; however the origin of this hypoactivity remains unclear. Possibly, stress could impact the prefrontal GABAergic inhibitory system that, as a result, impairs the functioning of downstream limbic structures controlling emotions. Preclinical evidence indicates that the female PFC is more sensitive to the effects of stress. These findings suggest that exposure to stress could lead to sex-specific alterations in prefrontal GABAergic signaling, which contribute to sex-specific abnormal functioning of limbic regions. These limbic changes could promote the onset of depressive and anxiety behaviors in a sex-specific manner, providing a possible mechanism mediating sex differences in the clinical presentation of stress-related mood disorders. We addressed this hypothesis using a mouse model of stress-induced depressive-like behaviors: the unpredictable chronic mild stress (UCMS) paradigm. We observed changes in prefrontal GABAergic signaling after exposure to UCMS most predominantly in females. Increased parvalbumin (PV) expression and decreased prefrontal neuronal activity were correlated in females with severe emotionality deficit following UCMS, and with altered activity of the amygdala. In males, small changes in emotionality following UCMS were associated with minor changes in prefrontal PV expression, and with hypoactivity of the nucleus accumbens. Our data suggest that prefrontal hypoactivity observed in stress-related mood disorders could result from stress-induced increases in PV expression, particularly in females. This increased vulnerability of the female prefrontal PV system to stress could underlie sex differences in the prevalence and symptomatology of stress-related mood disorders. Copyright © 2016 IBRO. Published by Elsevier Ltd. All

Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.

Science.gov (United States)

Sato, Yutaka; Mishimagi, Takashi; Katsuki, Yuko; Harada, Kiyoshi

2014-07-01

X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

[Does really sex addiction exist?].

Science.gov (United States)

Echeburúa, Enrique

2012-01-01

Hypersexual Disorder has been proposed as a new psychiatric disorder for DSM-V, characterized by an increased frequency and intensity of sexually motivated fantasies, arousal, urges, and enacted behavior in association with an impulsivity component. Excessive appetitive and consummatory behaviors, including hypersexuality, can become a non-chemical addiction. Sexual addiction afflicts people having paraphilic or nonparaphilic behaviors associated with progressive risk-taking sexual behaviors, escalation or progression of sexual behaviors (tolerance), loss of control and significant adverse psychosocial consequences, such as unplanned pregnancy, pair-bond dysfunction, marital separation, financial problems and sexually transmitted diseases including HIV. The most common behaviors involved in sexual addiction are fantasy sex, compulsive masturbation, pornography, cybersex, voyeuristic sex, anonymous sex and multiple sexual partners. These behaviors are intended to reduce anxiety and other dysphoric affects (e.g., shame and depression). Axis I psychiatric diagnosis, especially mood disorders, psychoactive substance abuse disorders and attention deficit hyperactivity disorders, are common comorbid disorders with sexual addiction. There are significant gaps in the current scientific knowledge base regarding the clinical course, development risk factors and family history and data on women with sexual addiction are lacking.

Deciphering the link between doubly uniparental inheritance of mtDNA and sex determination in bivalves: Clues from comparative transcriptomics

Science.gov (United States)

Capt, Charlotte; Renaut, Sébastien; Ghiselli, Fabrizio; Milani, Liliana; Johnson, Nathan A.; Sietman, Bernard E.; Stewart, Donald; Breton, Sophie

2018-01-01

Bivalves exhibit an astonishing diversity of sexual systems and sex-determining mechanisms. They can be gonochoric, hermaphroditic or androgenetic, with both genetic and environmental factors known to determine or influence sex. One unique sex-determining system involving the mitochondrial genome has also been hypothesized to exist in bivalves with doubly uniparental inheritance (DUI) of mtDNA. However, the link between DUI and sex determination remains obscure. In this study, we performed a comparative gonad transcriptomics analysis for two DUI-possessing freshwater mussel species to better understand the mechanisms underlying sex determination and DUI in these bivalves. We used a BLAST reciprocal analysis to identify orthologs between Venustaconcha ellipsiformis and Utterbackia peninsularis and compared our results with previously published sex-specific bivalve transcriptomes to identify conserved sex-determining genes. We also compared our data with other DUI species to identify candidate genes possibly involved in the regulation of DUI. A total of ∼12,000 orthologous relationships were found, with 2,583 genes differentially expressed in both species. Among these genes, key sex-determining factors previously reported in vertebrates and in bivalves (e.g., Sry, Dmrt1, Foxl2) were identified, suggesting that some steps of the sex-determination pathway may be deeply conserved in metazoans. Our results also support the hypothesis that a modified ubiquitination mechanism could be responsible for the retention of the paternal mtDNA in male bivalves, and revealed that DNA methylation could also be involved in the regulation of DUI. Globally, our results suggest that sets of genes associated with sex determination and DUI are similar in distantly-related DUI species.

The Role of Credit in Predicting US Recessions

DEFF Research Database (Denmark)

Pönkä, Harri

are useful predictors of US recessions over and above the control variables both in and out of sample. Especially the excess bond premium, capturing the cyclical changes in the relationship between default risk and credit spreads, is found to be a powerful predictor. Overall, models that combine credit......We study the role of credit in forecasting US recession periods with probit models. We employ both classical recession predictors and common factors based on a large panel of financial and macroeconomic variables as control variables. Our findings suggest that a number of credit variables...

Gastrointestinal symptoms and autism spectrum disorder: links and risks – a possible new overlap syndrome

Directory of Open Access Journals (Sweden)

Wasilewska J

2015-09-01

Full Text Available Jolanta Wasilewska, Mark Klukowski Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Bialystok, Poland Abstract: Autism spectrum disorder (ASD is a genetically determined neurodevelopmental brain disorder presenting with restricted, repetitive patterns of behaviors, interests, and activities, or persistent deficits in social communication and social interaction. ASD is characterized by many different clinical endophenotypes and is potentially linked with certain comorbidities. According to current recommendations, children with ASD are at risk of having alimentary tract disorders – mainly, they are at a greater risk of general gastrointestinal (GI concerns, constipation, diarrhea, and abdominal pain. GI symptoms may overlap with ASD core symptoms through different mechanisms. These mechanisms include multilevel pathways in the gut–brain axis contributing to alterations in behavior and cognition. Shared pathogenetic factors and pathophysiological mechanisms possibly linking ASD and GI disturbances, as shown by most recent studies, include intestinal inflammation with or without autoimmunity, immunoglobulin E-mediated and/or cell-mediated GI food allergies as well as gluten-related disorders (celiac disease, wheat allergy, non-celiac gluten sensitivity, visceral hypersensitivity linked with functional abdominal pain, and dysautonomia linked with GI dysmotility and gastroesophageal reflux. Dysregulation of the gut microbiome has also been shown to be involved in modulating GI functions with the ability to affect intestinal permeability, mucosal immune function, and intestinal motility and sensitivity. Metabolic activity of the microbiome and dietary components are currently suspected to be associated with alterations in behavior and cognition also in patients with other neurodegenerative diseases. All the above-listed GI factors may contribute to brain dysfunction and neuroinflammation depending upon

The Recession Squeezes Training.

Science.gov (United States)

Geber, Beverly

1991-01-01

Recession is having an impact on training departments. Besides a slowdown, it provides managers with a chance to reevaluate programs to ensure they are attuned to the specific goals of the company. (JOW)

Health Impacts of the Great Recession: A Critical Review.

Science.gov (United States)

Margerison-Zilko, Claire; Goldman-Mellor, Sidra; Falconi, April; Downing, Janelle

2016-03-01

The severity, sudden onset, and multipronged nature of the Great Recession (2007-2009) provided a unique opportunity to examine the health impacts of macroeconomic downturn. We comprehensively review empirical literature examining the relationship between the Recession and mental and physical health outcomes in developed nations. Overall, studies reported detrimental impacts of the Recession on health, particularly mental health. Macro- and individual-level employment- and housing-related sequelae of the Recession were associated with declining fertility and self-rated health, and increasing morbidity, psychological distress, and suicide, although traffic fatalities and population-level alcohol consumption declined. Health impacts were stronger among men and racial/ethnic minorities. Importantly, strong social safety nets in some European countries appear to have buffered those populations from negative health effects. This literature, however, still faces multiple methodological challenges, and more time may be needed to observe the Recession's full health impact. We conclude with suggestions for future work in this field.

Child Poverty and the Great Recession in the United States

OpenAIRE

Marianne Bitler; Hilary Hoynes; Elira Kuka

2014-01-01

In the midst of the Great Recession, median real household income fell from $61,597 in 2007 to $57,025 in 2010 and $51,007 in 2012. Given that the effects of the Great Recession on unemployment were greater for less skilled workers the authors expect the effects of the Great Recession on household incomes to be larger in relative terms for individuals in the lower end of the income distribution. To explore this issue, in this paper, they comprehensively examine the effects of the Great Recess...

Aeroacoustical Study of the Tgv Pantograph Recess

Science.gov (United States)

NOGER, C.; PATRAT, J. C.; PEUBE, J.; PEUBE, J. L.

2000-03-01

The general focus of this aerodynamic noise research, induced by turbulent incompressible flow, is to improve our knowledge of acoustic production mechanisms in the TGV pantograph recess in order to be able to reduce the radiated noise. This work is performed under contract with SNCF as a part of the German-French Cooperation DEUFRAKO K2, and is supported by French Ministries for Transport and Research. Previous studies on TGV noise source locations (DEUFRAKO K) have identified the pantograph recess as one of the important aerodynamic noise sources, for speeds higher than 300 km/h, due to flow separation. The pantograph recess is a very complex rectangular cavity, located both on the power car and the first coach roofs of the TGV, and has not been studied before due to the complex shapes. Its aeroacoustic features are investigated experimentally in a low-subsonic wind tunnel, on a realistic 1/7th scale mock-up both with and without pantographs. Flow velocities, estimated with hot-wire anemometry, and parietal visualizations show the flow to reattach on the recess bottom wall and to separate again at the downstream face. Wall pressure fluctuations and “acoustic” measurements using 14 and 12 in microphones respectively are also measured to qualify the flow: no aerodynamic or acoustic oscillations are observed. The study indicates that the pantograph recess has a different behaviour compared to the usual cavity grazing flows.

Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

Science.gov (United States)

Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

2015-01-01

To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

Sexual orientation and eating disorders: exploring the possible link

Directory of Open Access Journals (Sweden)

Jakub Kuna

2017-09-01

Full Text Available This paper is aimed at investigating the potential connection between the prevalence of eating disorders and sexual orientation, as well as to exploring the nature of the possible relationship. For that purpose, results of studies found in digital databases were searched and analysed. Such a link has been found to exist, yet its character is difficult to determine due to limited data, problems in classifying patients’ sexual orientation, or collecting honest answers to sensitive but crucial questions. Most studies on the subject have been conducted in the USA and, rather predictably, mainly among women. Higher incidence rates were found in non-heterosexual men and bisexual women. It is not clear if homosexual women are more susceptible as well. It may be a result of being exposed to unique risk factors, such as common body image dissatisfaction, fear of coming out, or falling a victim to bullying. The lack of family support among sexual minorities also seems to be a significant factor – not only regarding the development of eating disorders but their effective treatment as well. This knowledge may be helpful in the prevention of eating disorders, making clinical examination more accurate and facilitating adjustments of therapy for people with eating disorders. Further research is needed, including more eating disorders and sexual orientation groups.

Sex differences in stress regulation of arousal and cognition.

Science.gov (United States)

Bangasser, Debra A; Eck, Samantha R; Telenson, Alexander M; Salvatore, Madeleine

2018-04-01

There are sex differences in the prevalence and presentation of many psychiatric disorders. For example, posttraumatic stress disorder (PTSD) and major depression are more common in women than men, and women with these disorders present with more hyperarousal symptoms than men. In contrast, attention deficit hyperactivity disorder (ADHD) and schizophrenia are more common in men than women, and men with these disorders have increased cognitive deficits compared to women. A shared feature of the aforementioned psychiatric disorders is the contribution of stressful events to their onset and/or severity. Here we propose that sex differences in stress responses bias females towards hyperarousal and males towards cognitive deficits. Evidence from clinical and preclinical studies is detailed. We also describe underlying neurobiological mechanisms. For example, sex differences in stress receptor signaling and trafficking in the locus coeruleus-arousal center are detailed. In learning circuits, evidence for sex differences in dendritic morphology is provided. Finally, we describe how evaluating sex-specific mechanisms for responding to stress in female and male rodents can lead to better treatments for stress-related psychiatric disorders. Copyright © 2017 Elsevier Inc. All rights reserved.

Non-Overweight and Overweight Children's Physical Activity during School Recess

Science.gov (United States)

Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer L.

2014-01-01

Objective: Little research has investigated children's physical activity levels during school recess and the contribution of recess to school day physical activity levels by weight status. The aims of this study were to examine non-overweight and overweight children's physical activity levels during school recess, and examine the contribution of…

Morbidity and mortality in homeless individuals, prisoners, sex workers, and individuals with substance use disorders in high-income countries

DEFF Research Database (Denmark)

Aldridge, Robert W.; Story, Alistair; Hwang, Stephen W.

2018-01-01

, and observational studies that had morbidity and mortality outcomes, were published in English, from high-income countries, and were done in populations with a history of homelessness, imprisonment, sex work, or substance use disorder (excluding cannabis and alcohol use). Studies with only perinatal outcomes...... use disorders, sex workers, and imprisoned individuals. Methods: For this systematic review and meta-analysis, we searched MEDLINE, Embase, and the Cochrane Library for studies published between Jan 1, 2005, and Oct 1, 2015. We included only systematic reviews, meta-analyses, interventional studies...... and studies of individuals with a specific health condition or those recruited from intensive care or high dependency hospital units were excluded. We screened studies using systematic review software and extracted data from published reports. Primary outcomes were measures of morbidity (prevalence...

The differences in physical activity levels in preschool children during free play recess and structured play recess

Directory of Open Access Journals (Sweden)

Megan L. Frank

2018-04-01

Full Text Available Background/Objective: Physical activity (PA is important in reducing childhood obesity, yet a majority of children are not meeting PA guidelines. Schools have been identified as a place to promote childhood PA. The purpose of this study was to determine the best type of physically active recess period to increase preschool-aged children's PA. Methods: PA was measured via accelerometers in preschool-aged children (n = 29 during three, 30-min recess conditions (control; structured play; free play on separate school days. Tertile splits were performed based on PA during the free play condition and children were divided into three groups: highly, moderately and least active. Results: For the aggregated sample, children were more (p ≤ 0.001 active during the free play (1282 ± 662 counts. min−1 and structured play (1416 ± 448 counts. min−1 recess versus the control condition (570 ± 460 counts. min−1 and activity was not different between the free play and structured conditions. However, children who were the most active during free play (1970 ± 647 counts·min−1 decreased (p ≤ 0.05 activity during structured play (1462 ± 535 counts·min−1, whereas children who were moderately active (1031 ± 112 counts·min−1 or the least (530 ± 239 counts·min−1 active during free play increased activity during structured play (1383 ± 345 counts·min−1 moderately active, 1313 ± 413 counts·min−1 least active. Conclusion: Providing a physically-active recess period will contribute to preschool-aged children meeting the recommended PA guidelines; however, different children may respond in a different way based upon the structure of the recess period.

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Science.gov (United States)

2011-01-01

Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations. Contribution of ASPM and WDR62 gene mutations in MCPH World wide is more than 50%. By and large, primary microcephaly patients are phenotypically indistinguishable, however, recent studies in patients with mutations in MCPH1, WDR62 and ASPM genes showed a broader clinical and/or cellular phenotype. It has been proposed that mutations in MCPH genes can cause the disease phenotype by disturbing: 1) orientation of mitotic spindles, 2) chromosome condensation mechanism during embryonic neurogenesis, 3) DNA damage-response signaling, 4) transcriptional regulations and microtubule dynamics, 5) certain unknown centrosomal mechanisms that control the number of neurons generated by neural precursor cells. Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. High incidence of MCPH in Pakistani population reflects the most probable involvement of consanguinity. Genetic counseling and clinical management through carrier detection/prenatal diagnosis in MCPH families can help reducing the incidence of this autosomal recessive disorder. PMID:21668957

CEREBELLUM: LINKS BETWEEN DEVELOPMENT, DEVELOPMENTAL DISORDERS AND MOTOR LEARNING

Directory of Open Access Journals (Sweden)

Mario U Manto

2012-01-01

Full Text Available The study of the links and interactions between development and motor learning has noticeable implications for the understanding and management of neurodevelopmental disorders. This is particularly relevant for the cerebellum which is critical for sensorimotor learning. The olivocerebellar pathway is a key pathway contributing to learning of motor skills. Its developmental maturation and remodelling are being unravelled. Advances in genetics have led to major improvements in our appraisal of the genes involved in cerebellar development, especially studies in mutant mice. Cerebellar neurogenesis is compartmentalized in relationship with neurotransmitter fate. The Engrailed-2 gene is a major actor of the specification of cerebellar cell types and late embryogenic morphogenesis. Math1, expressed by the rhombic lip (RL, is required for the genesis of glutamatergic neurons. Mutants deficient for the transcription factor Ptf1a display a lack of Purkinje cells and gabaergic interneurons. Rora gene contributes to the developmental signalling between granule cells and Purkinje neurons. The expression profile of SHH (Sonic hedgehog in postnatal stages determines the final size/shape of the cerebellum. Genes affecting the development impact upon the physiological properties of the cerebellar circuits. For instance, receptors are developmentally regulated and their action interferes directly with developmental processes. Another field of research which is expanding relates to very preterm neonates. They are at risk for cerebellar lesions, which may themselves impair the developmental events. Very preterm neonates often show sensori-motor deficits, highlighting another major link between impaired development and learning deficiencies. Pathways playing a critical role in cerebellar development are likely to become therapeutical targets for several neurodevelopmental disorders.

The Effect of Recessions on Firms’ Boundaries

DEFF Research Database (Denmark)

Knudsen, Eirik Sjåholm; Foss, Kirsten

2014-01-01

The economic theory of the firm offers conflicting predictions of how the two major effects of recessions, changes in demand and access to credit, affect firm boundaries. Using data on Norwegian firms in the recent recession, we find support for both increased and reduced vertical integration...... explanation for the conflicting theoretical predictions regarding vertical integration in response to demand and credit shocks....

The Missing Link between Juvenile Delinquency and Pediatric Posttraumatic Stress Disorder: An Attachment Theory Lens

OpenAIRE

Amatya, Pooja L.; Barzman, Drew H.

2012-01-01

The present paper reviews pediatric posttraumatic stress disorder, emphasizing the relational basis of the disorder and highlighting the missing link between juvenile delinquency and trauma. The first part of the paper defines trauma and the diagnostic criteria for PTSD, noting child-specific features. The second part reviews the literature emphasizing the relational and attachment relevant nature of trauma. The third part explores psychological mechanisms for how attachment relations could a...

Academic Performance and the Great Recession

OpenAIRE

Adamopoulou, Effrosyni; Tanzi, Giulia M.

2014-01-01

In this paper we study how the Great Recession affected university students in terms of performance, with a special focus on the dropout probability. To do so, we use individual-level data on a representative sample of university students in Italy in 2007 and 2011. We measure the severity of the recession in terms of increases in adult and youth unemployment rate and we exploit geographical variation to achieve identification. On the one hand, an increase in adult male unemployment rate deter...

Molecular study of developmental sex disorders in children

African Journals Online (AJOL)

Soheir S. AboElella

2015-03-07

Mar 7, 2015 ... development, causing divergences between genetic sex, gonadal sex and phenotypic sex ... neonatal history of failure to thrive, vomiting, skin pigmen- tations and .... of them (12 & 14) suffered from hypoglycemia. Hormonal ...

Recession-An issue for organizations

Directory of Open Access Journals (Sweden)

Daniel GEORGESCU

2009-12-01

Full Text Available The reality in all organization is that the directors and board are in the position of highest influence and their primary responsibility is leadership. As such, considering the consequences of a recession such as we currently face is not the time for directors to abdicate their responsibilities – it is time for governance leadership. The directors and the board must think and respond strategically. The article shows a matrix for positioning the general manager in recession that is similarly with BCG matrix and in the final a table with a set of essential questions for helping the board in new strategies building.

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

Science.gov (United States)

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

2014-02-01

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

Sex differences in first-admission psychiatric inpatients with and without a comorbid substance use disorder.

Science.gov (United States)

Gramaglia, Carla; Bert, Fabrizio; Lombardi, Ada; Feggi, Alessandro; Porro, Marica; Siliquini, Roberta; Gualano, Maria Rosaria; Torre, Eugenio; Zeppegno, Patrizia

2014-01-01

We assessed sex differences in a sample of first-admission psychiatric inpatients with and without comorbid substance use disorder (SUD) to identify possible risk factors and targets for sex-tailored treatment interventions. A retrospective study of first admissions to the University Psychiatry Ward, "Maggiore della Carità" Hospital, Novara, Italy, between 2003 and 2012 was accomplished. The clinical charts of patients with (N = 362) and without comorbid SUD (N = 1111) were reviewed. Differences in employment, educational, and marital statuses were found between male and female psychiatric patients with and without comorbid SUD. Having a degree was a protective factor for males, whereas it was a risk factor for females. Being divorced and having family problems were both risk factors for comorbidity in females. Regarding the diagnosis, results overlapped in males and females, and both affective and other disorders were risk factors for a comorbid SUD. A significant difference between male and female psychiatric patients with a comorbid SUD was the males' overall poorer psychosocial functioning. Marital status and family problems were risk factors for comorbid SUD in females. Both males and females showed various pathways of access to and choices of substances and, eventually, experienced different impacts on their lives. Hospitalization might help to set up a targeted intervention for patients with comorbidity, while accounting for sex differences. With respect to males, a treatment approach focused on the substance alone might help improve their functioning; females might have a greater benefit from a treatment approach focused on distress, family problems, and relational issues.

Prospective effects of attention-deficit/hyperactivity disorder, conduct disorder, and sex on adolescent substance use and abuse.

Science.gov (United States)

Elkins, Irene J; McGue, Matt; Iacono, William G

2007-10-01

Attention-deficit/hyperactivity disorder (ADHD), an early manifestation of externalizing behavior, may identify children at high risk for later substance abuse. However, the ADHD-substance abuse relationship often disappears when co-occurring conduct disorder (CD) is considered. To determine whether there is a prospective relationship between ADHD and the initiation of substance use and disorders, and whether this relationship depends on the ADHD subtype (hyperactive/impulsive or inattentive), CD, or sex. Dimensional and categorical measures of ADHD and CD were examined via logistic regression analyses in relation to subsequent initiation of tobacco, alcohol, and illicit drug use by 14 years of age and onset of substance use disorders by 18 years of age in a population-based sample of 11-year-old twins (760 female and 752 male twins) from the Minnesota Twin Family Study. Structured interviews were administered to adolescents and their mothers regarding substance use and to generate diagnoses. For boys and girls, hyperactivity/impulsivity predicted initiation of all types of substance use, nicotine dependence, and cannabis abuse/dependence (for all, P ADHD significantly predicted tobacco and illicit drug use only (adjusted odds ratios, 2.01 and 2.82, respectively). A diagnosis of CD between 11 and 14 years of age was a powerful predictor of substance disorders by 18 years of age (all odds ratios, > 4.27). Hyperactivity/impulsivity predicts later substance problems, even after growth in later-emerging CD is considered, whereas inattention alone poses less risk. Even a single symptom of ADHD or CD is associated with increased risk. Failure in previous research to consistently observe relationships between ADHD and substance use and abuse outcomes could be due to reliance on less-sensitive categorical diagnoses.

Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.

Science.gov (United States)

Thomas, P K; Kalaydjieva, L; Youl, B; Rogers, T; Angelicheva, D; King, R H; Guergueltcheva, V; Colomer, J; Lupu, C; Corches, A; Popa, G; Merlini, L; Shmarov, A; Muddle, J R; Nourallah, M; Tournev, I

2001-10-01

A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gypsies and termed hereditary motor and sensory neuropathy-Russe (HMSN-R). We investigated 21 affected individuals from 10 families. Distal lower limb weakness began between the ages of 8 and 16 years, upper limb involvement beginning between 10 and 43 years, with an average of 22 years. This progressive disorder led to severe weakness of the lower limbs, generalized in the oldest subject (aged 57 years), and marked distal upper limb weakness. Prominent distal sensory loss involved all modalities, resulting in neuropathic joint degeneration in two instances. All patients showed foot deformity, and most showed hand deformity. Motor nerve conduction velocity was moderately reduced in the upper limbs but unobtainable in the legs. Sensory nerve action potentials were absent. There was loss of larger myelinated nerve fibers and profuse regenerative activity in the sural nerve. HMSN-R is a new form of autosomal recessive inherited HMSN caused by a single founder mutation in a 1 Mb interval on chromosome 10q.

Recent declines in cancer incidence: related to the Great Recession?

Science.gov (United States)

Gomez, Scarlett Lin; Canchola, Alison J; Nelson, David O; Keegan, Theresa H M; Clarke, Christina A; Cheng, Iona; Shariff-Marco, Salma; DeRouen, Mindy; Catalano, Ralph; Satariano, William A; Davidson-Allen, Kathleen; Glaser, Sally L

2017-02-01

In recent years, cancer case counts in the U.S. underwent a large, rapid decline-an unexpected change given population growth for older persons at highest cancer risk. As these declines coincided with the Great Recession, we examined whether they were related to economic conditions. Using California Cancer Registry data from California's 30 most populous counties, we analyzed trends in cancer incidence during pre-recession (1996-2007) and recession/recovery (2008-2012) periods for all cancers combined and the ten most common sites. We evaluated the recession's association with rates using a multifactorial index that measured recession impact, and modeled associations between case counts and county-level unemployment rates using Poisson regression. Yearly cancer incidence rate declines were greater during the recession/recovery (3.3% among males, 1.4% among females) than before (0.7 and 0.5%, respectively), particularly for prostate, lung, and colorectal cancers. Lower case counts, especially for prostate and liver cancer among males and breast cancer, melanoma, and ovarian cancer among females, were associated with higher unemployment rates, irrespective of time period, but independent of secular effects. The associations for melanoma translated up to a 3.6% decrease in cases with each 1% increase in unemployment. Incidence declines were not greater in counties with higher recession impact index. Although recent declines in incidence of certain cancers are not differentially impacted by economic conditions related to the Great Recession relative to pre-recession conditions, the large recent absolute declines in the case counts of some cancer may be attributable to the large declines in unemployment in the recessionary period. This may occur through decreased engagement in preventive health behaviors, particularly for clinically less urgent cancers. Continued monitoring of trends is important to detect any rises in incidence rates as deferred diagnoses come to

Psychosexual Development in Adolescents and Adults with Disorders of Sex Development-Results from the German Clinical Evaluation Study

NARCIS (Netherlands)

Jurgensen, M.; Kleinemeier, E.; Lux, A.; Steensma, T.D.; Cohen-Kettenis, P.T.; Hiort, O.; Thyen, U.; Kohler, B.

2013-01-01

Introduction. Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual orientation is unclear. Disorders of sex development (DSDs) are

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Science.gov (United States)

Hamza, Wahiba; Ali Pacha, Lamia; Hamadouche, Tarik; Muller, Jean; Drouot, Nathalie; Ferrat, Farida; Makri, Samira; Chaouch, Malika; Tazir, Meriem; Koenig, Michel; Benhassine, Traki

2015-06-12

Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlapping features complicate furthermore the etiological diagnosis of ARCA. The determination of the most frequent mutations and corresponding ataxias, as well as particular features specific to a population, are mandatory to facilitate and speed up the diagnosis process, especially when an appropriate treatment is available. We explored 166 patients (115 families) refered to the neurology units of Algiers central hospitals (Algeria) with a cerebellar ataxia phenotype segregating as an autosomal recessive pattern of inheritance. Genomic DNA was extracted from peripheral blood samples and mutational screening was performed by PCR and direct sequencing or by targeted genomic capture and massive parallel sequencing of 57 genes associated with inherited cerebellar ataxia phenotypes. In this work we report the clinical and molecular results obtained on a large cohort of Algerian patients (110 patients/76 families) with genetically determined autosomal recessive ataxia, representing 9 different types of ARCA and 23 different mutations, including 6 novel ones. The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia and ataxia with isolated vitamin E deficiency) coexist with forms that may be

Results after gastrocnemius recession in 73 patients.

Science.gov (United States)

Molund, Marius; Paulsrud, Øyvind; Ellingsen Husebye, Elisabeth; Nilsen, Fredrik; Hvaal, Kjetil

2014-12-01

Very few studies describe the clinical results and complications following the surgical procedure of gastrocnemius recession. To survey the patient reported outcomes in patients operated with gastrocnemius recession as single procedure for various foot conditions. 93 patients operated with gastrocnemius recession as single procedure between 2006 and 2011 were detected in the database. 73 patients responded to the invitation for study participation. Questionnaires containing patient reported satisfaction, complications, plantar flexion power and visual analog pain score were used for evaluation of the postoperative result. 45/73 (62%) patients reported a good or excellent result. 8/73 (11%) patients reported a significant postoperative complication. 16/73 (22%) patients noted reduced or severely reduced plantar flexion power after surgery. VAS pain score significantly decreased from 7.0 before surgery to 1.8 (p=0.015) after surgery for patients with plantar fasciitis (n=18) and from 5.6 to 2.3 (p<0.01) for patients with metatarsalgia (n=28). Patients treated with gastrocnemius recession for plantar fasciitis demonstrated good clinical results. The complication rate was higher than reported by others. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

OpenAIRE

Iqbal, Zafar; P?ttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka ELM; de Brouwer, Arjan PM; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein

2015-01-01

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenti...

Suicide and the Great Recession of 2007-2009: the role of economic factors in the 50 U.S. states.

Science.gov (United States)

Phillips, Julie A; Nugent, Colleen N

2014-09-01

After several decades of decline, U.S. suicide rates have risen since 2005, a trend driven largely by increases among those aged 45-64 that began in 1999. A prominent explanation for this pattern relates to deteriorating economic conditions, especially the sharp rise in unemployment associated with the Great Recession of 2007-2009. We pool data from 1997 to 2010 on the 50 U.S. states to examine the role of economic factors in producing the recent rise in suicide rates. Unlike prior studies, we examine trends in the total suicide rate and in the rate disaggregated by sex, age group and time period and include a number of important confounding factors in a multivariate analysis. We find a strong positive association between unemployment rates and total suicide rates over time within states. The association appears stronger in states that had higher female labor force participation rates over the period, suggesting that the Great Recession may generate greater levels of anomie in this context. Once we consider contextual factors such as female labor force participation, we find that rising unemployment had a similar adverse effect on male and female suicide rates. A positive effect of unemployment on temporal variation in middle-aged suicide exists but not for other age groups. Other economic characteristics, such as percent of manufacturing jobs and per capita income, are not associated with temporal variation in suicide rates within states but are associated with variation between states in suicide rates. The findings suggest that the following may be important components of effective prevention strategies: 1) specifically targeting employers and workplaces as important stakeholders in the prevention of suicide, 2) disseminating information about health risks tied to un/employment, and 3) linking the unemployed to mental health resources. Published by Elsevier Ltd.

Optical Phase Measurements of Disorder Strength Link Microstructure to Cell Stiffness.

Science.gov (United States)

Eldridge, Will J; Steelman, Zachary A; Loomis, Brianna; Wax, Adam

2017-02-28

There have been sustained efforts on the part of cell biologists to understand the mechanisms by which cells respond to mechanical stimuli. To this end, many rheological tools have been developed to characterize cellular stiffness. However, measurement of cellular viscoelastic properties has been limited in scope by the nature of most microrheological methods, which require direct mechanical contact, applied at the single-cell level. In this article, we describe, to our knowledge, a new analysis approach for quantitative phase imaging that relates refractive index variance to disorder strength, a parameter that is linked to cell stiffness. Significantly, both disorder strength and cell stiffness are measured with the same phase imaging system, presenting a unique alternative for label-free, noncontact, single-shot imaging of cellular rheologic properties. To demonstrate the potential applicability of the technique, we measure phase disorder strength and shear stiffness across five cellular populations with varying mechanical properties and demonstrate an inverse relationship between these two parameters. The existence of this relationship suggests that predictions of cell mechanical properties can be obtained from examining the disorder strength of cell structure using this, to our knowledge, novel, noncontact technique. Copyright © 2017 Biophysical Society. Published by Elsevier Inc. All rights reserved.

Housing instability and alcohol problems during the 2007-2009 US recession: the moderating role of perceived family support.

Science.gov (United States)

Murphy, Ryan D; Zemore, Sarah E; Mulia, Nina

2014-02-01

The 2007-2009 US economic recession was marked by unprecedented rates of housing instability and relatively little is known about how this instability impacted alcohol problems. While previous studies have linked homelessness to increased rates of alcohol use and abuse, housing instability during a recession impacts a much larger segment of the population and usually does not result in homelessness. Using a nationally representative sample of US adults, this study examines the association between housing instability during the recession and alcohol outcomes. Additionally, we assess whether this association is moderated by perceived family support. In multivariate negative binomial regressions, both trouble paying the rent/mortgage (vs. stable housing) and lost (vs. stable) housing were associated with experiencing more negative drinking consequences and alcohol dependence symptoms. However, these associations were moderated by perceived family support. In contrast to those with low perceived family support, participants with high perceived family support reported relatively few alcohol problems, irrespective of housing instability. Furthermore, while job loss was strongly associated with alcohol problems in univariate models, no significant associations between job loss and alcohol outcomes were observed in multivariate models that included indicators of housing instability. Findings point to the importance of the informal safety net and suggest that alcohol screening and abuse prevention efforts should be intensified during periods of recession, particularly among those who experience housing instability.

Young men’s shame about their desire for other men predicts risky sex and moderates the knowledge - self-efficacy link.

Directory of Open Access Journals (Sweden)

Mina ePark

2014-10-01

Full Text Available Background: Recent findings suggest that a strong negative social emotion (i.e., shame increases YMSM’s sexual risk-taking. Unchangeable shame (e.g., desire for other men might undermine (moderate the link between knowledge and self-efficacy or between self-efficacy and unprotected anal intercourse (UAI: This may be less likely for changeable shame (e.g., shame about risky sexual behavior.Aim: To test the hypotheses that shame (i.e., sexual desire shame, but not shame about behavior (i.e., sexual behavior shame, will be positively related to UAI and will moderate the relationship between knowledge and self-efficacy and/or self-efficacy and UAI among YMSM.Method: In an online national study, 1177 young adult (18-24 year old MSM reported one or more acts of UAI in the past 90 days with a casual partner. Eligible MSM filled out a survey in which they provided information about their knowledge of safer sex, self-efficacy for safer sex, reported levels of shame, and reported past 90-day UAI. Results: Sexual desire shame was negatively correlated with knowledge and self-efficacy and positively correlated with UAI: The pattern reversed for sexual behavior shame. Sexual desire shame significantly lowered the knowledge to self-efficacy and the self-efficacy to UAI links. Sexual behavior shame also reduced the link from knowledge to self-efficacy, but not the self-efficacy to UAI link. Conclusion: The present study shows that there are different types of shame that may produce different effects with different implications for health behavior. Sexual desire shame may better reflect an emotion that is activated prior to risky behavior (e.g., when men reflect upon or feel desire for another man. Sexual behavior shame, on the other hand, better reflects what has already happened: Thus, those higher in knowledge, efficacy, and therefore safer sex are least likely to experience shame behavior.

Adolescent Major Depressive Disorder: Neuroimaging Evidence of Sex Difference during an Affective Go/No-Go Task

Directory of Open Access Journals (Sweden)

Jie-Yu Chuang

2017-07-01

Full Text Available Compared to female major depressive disorder (MDD, male MDD often receives less attention. However, research is warranted since there are significant sex differences in the clinical presentation of MDD and a higher rate of suicide in depressed men. To the best of our knowledge, this is the first functional magnetic resonance imaging (fMRI study with a large sample addressing putative sex differences in MDD during adolescence, a period when one of the most robust findings in psychiatric epidemiology emerges; that females are twice as likely to suffer from MDD than males. Twenty-four depressed and 10 healthy male adolescents, together with 82 depressed and 24 healthy female adolescents, aged 11–18 years, undertook an affective go/no-go task during fMRI acquisition. In response to sad relative to neutral distractors, significant sex differences (in the supramarginal gyrus and group-by-sex interactions (in the supramarginal gyrus and the posterior cingulate cortex were found. Furthermore, in contrast to the healthy male adolescents, depressed male adolescents showed decreased activation in the cerebellum with a significant group-by-age interaction in connectivity. Future research may consider altered developmental trajectories and the possible implications of sex-specific treatment and prevention strategies for MDD.

Adolescent Major Depressive Disorder: Neuroimaging Evidence of Sex Difference during an Affective Go/No-Go Task.

Science.gov (United States)

Chuang, Jie-Yu; Hagan, Cindy C; Murray, Graham K; Graham, Julia M E; Ooi, Cinly; Tait, Roger; Holt, Rosemary J; Elliott, Rebecca; van Nieuwenhuizen, Adrienne O; Bullmore, Edward T; Lennox, Belinda R; Sahakian, Barbara J; Goodyer, Ian M; Suckling, John

2017-01-01

Compared to female major depressive disorder (MDD), male MDD often receives less attention. However, research is warranted since there are significant sex differences in the clinical presentation of MDD and a higher rate of suicide in depressed men. To the best of our knowledge, this is the first functional magnetic resonance imaging (fMRI) study with a large sample addressing putative sex differences in MDD during adolescence, a period when one of the most robust findings in psychiatric epidemiology emerges; that females are twice as likely to suffer from MDD than males. Twenty-four depressed and 10 healthy male adolescents, together with 82 depressed and 24 healthy female adolescents, aged 11-18 years, undertook an affective go/no-go task during fMRI acquisition. In response to sad relative to neutral distractors, significant sex differences (in the supramarginal gyrus) and group-by-sex interactions (in the supramarginal gyrus and the posterior cingulate cortex) were found. Furthermore, in contrast to the healthy male adolescents, depressed male adolescents showed decreased activation in the cerebellum with a significant group-by-age interaction in connectivity. Future research may consider altered developmental trajectories and the possible implications of sex-specific treatment and prevention strategies for MDD.

Protective factors for mental disorders and psychological distress in female, compared with male, service members in a representative sample.

Science.gov (United States)

Mota, Natalie P; Medved, Maria; Whitney, Debbie; Hiebert-Murphy, Diane; Sareen, Jitender

2013-10-01

Although military interest in promoting psychological resilience is growing, resources protective against psychopathology have been understudied in female service members. Using a representative sample of Canadian Forces personnel, we investigated whether religious attendance, spirituality, coping, and social support were related to mental disorders and psychological distress in female service members, and whether sex differences occurred in these associations. Religious attendance and spirituality were self-reported. Coping items were taken from 3 scales and produced 3 factors (active, avoidance, and self-medication). Social support was assessed with the Medical Outcomes Study Social Support Survey. Past-year mental disorders were diagnosed with the World Mental Health Composite International Diagnostic Interview. The Kessler Psychological Distress Scale assessed distress. Multivariate regression models investigated links between correlates and psychological outcomes within each sex. For associations that were statistically significant in only one sex, sex by correlate interactions were computed. In female service members, inverse relations were found between social support and MDD, any MDD or anxiety disorder, suicidal ideation, and distress. No associations were found between religious attendance and outcomes, and spirituality was associated with an increased likelihood of some outcomes. Active coping was related to less psychological distress, while avoidance coping and self-medication were linked to a higher likelihood of most outcomes. Although several statistically significant associations were found in only one sex, only one sex by correlate interaction was statistically significant. Social support was found to be inversely related to several negative mental health outcomes in female service members. Few differences between men and women reached statistical significance. Future research should identify additional helpful resources for female service members.

Sex- and age-specific associations between major depressive disorder and metabolic syndrome in two general population samples in Germany.

Science.gov (United States)

Block, Andrea; Schipf, Sabine; Van der Auwera, Sandra; Hannemann, Anke; Nauck, Matthias; John, Ulrich; Völzke, Henry; Freyberger, Harald Jürgen; Dörr, Marcus; Felix, Stephan; Zygmunt, Marek; Wallaschofski, Henri; Grabe, Hans Jörgen

2016-11-01

Major depressive disorder (MDD) has been associated with the Metabolic Syndrome (MetS). As previous data strongly suggested sex and age effects on this association, this study aimed to analyse the association between MDD and MetS in two general population samples under explicit consideration of sex and age. This study analysed cross-sectional data based on two independent general population samples: SHIP-0 (n = 4083; 20-81 years; 49.4% male) and SHIP-TREND-0 (n = 3957; 20-83 years; 49.0% male) that were part of the Study of Health in Pomerania. MDD (SHIP-0: 12.6%; SHIP-TREND-0: 27.2%) was assessed using the Composite International Diagnostic-Screener (CID-S) in both samples. Interview assessment of MDD diagnosis according to Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) criteria was performed in SHIP-TREND-0 (18.1% MDD). MetS was defined by abdominal obesity, elevated blood pressure, elevated glucose, elevated triglycerides and reduced high-density lipoprotein cholesterol according to established criteria. Data analysis was performed sex- and age-stratified. Prevalence of MetS was high in both samples: 19.4% of females and 30.2% of males in SHIP-0 and 22.1% and 33.2% in SHIP-TREND-0, respectively. Effect modifications were observed by sex and age on the association between MDD and MetS. Particularly, younger females (20-49 years) with MDD were more often affected by MetS than younger females without MDD: OR = 2.21 (95% CI = 1.39-3.50). This association vanished in elderly participants (50-82 years). The data suggest that especially younger (presumably pre-menopausal) females with MDD are more likely to have MetS than those without major depressive disorders, and that age extenuates this association.

Clinical manifest x-linked recessive adrenoleukodystrophy in a female

DEFF Research Database (Denmark)

Jack, Gyda Hlin Skuladottir; Malm-Willadsen, Karolina; Frederiksen, Anja

2013-01-01

Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands. ALD...... examination revealed decreased sensitivity in the feet, particularly to touch. Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally. Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal. After two years of progressing symptoms...

A etiologia multifatorial da recessão periodontal The etiologic factors of periodontal recession

Directory of Open Access Journals (Sweden)

Karen Ferreira Gazel Yared

2006-12-01

Full Text Available A literatura apresenta vários fatores relacionados na etiologia da recessão periodontal, além do processo inflamatório induzido pelo biofilme bacteriano, os quais incluem fatores externos e anatômicos locais. Por meio deste estudo, revistou-se a literatura sobre tais fatores, cujo conhecimento é de grande importância para o ortodontista, contribuindo durante o diagnóstico, planejamento e tratamento ortodôntico propriamente dito.The literature shows that besides dental plaque, some external and anatomic local factors are still related to gingival recession etiology. This study reviewed the literature about those factors, which knownledge is of great benefit to the orthodontist, contributing during diagnostic, planning and orthodontic treatment.

A reconfiguration of the sex trade: How social and structural changes in eastern Zimbabwe left women involved in sex work and transactional sex more vulnerable.

Science.gov (United States)

Elmes, Jocelyn; Skovdal, Morten; Nhongo, Kundai; Ward, Helen; Campbell, Catherine; Hallett, Timothy B; Nyamukapa, Constance; White, Peter J; Gregson, Simon

2017-01-01

Understanding the dynamic nature of sex work is important for explaining the course of HIV epidemics. While health and development interventions targeting sex workers may alter the dynamics of the sex trade in particular localities, little has been done to explore how large-scale social and structural changes, such as economic recessions-outside of the bounds of organizational intervention-may reconfigure social norms and attitudes with regards to sex work. Zimbabwe's economic collapse in 2009, following a period (2000-2009) of economic decline, within a declining HIV epidemic, provides a unique opportunity to study community perceptions of the impact of socio-economic upheaval on the sex trade. We conducted focus group discussions with 122 community members in rural eastern Zimbabwe in January-February 2009. Groups were homogeneous by gender and occupation and included female sex workers, married women, and men who frequented bars. The focus groups elicited discussion around changes (comparing contemporaneous circumstances in 2009 to their memories of circumstances in 2000) in the demand for, and supply of, paid sex, and how sex workers and clients adapted to these changes, and with what implications for their health and well-being. Transcripts were thematically analyzed. The analysis revealed how changing economic conditions, combined with an increased awareness and fear of HIV-changing norms and local attitudes toward sex work-had altered the demand for commercial sex. In response, sex work dispersed from the bars into the wider community, requiring female sex workers to employ different tactics to attract clients. Hyperinflation meant that sex workers had to accept new forms of payment, including sex-on-credit and commodities. Further impacting the demand for commercial sex work was a poverty-driven increase in transactional sex. The economic upheaval in Zimbabwe effectively reorganized the market for sex by reducing previously dominant forms of commercial sex

A reconfiguration of the sex trade: How social and structural changes in eastern Zimbabwe left women involved in sex work and transactional sex more vulnerable.

Directory of Open Access Journals (Sweden)

Jocelyn Elmes

Full Text Available Understanding the dynamic nature of sex work is important for explaining the course of HIV epidemics. While health and development interventions targeting sex workers may alter the dynamics of the sex trade in particular localities, little has been done to explore how large-scale social and structural changes, such as economic recessions-outside of the bounds of organizational intervention-may reconfigure social norms and attitudes with regards to sex work. Zimbabwe's economic collapse in 2009, following a period (2000-2009 of economic decline, within a declining HIV epidemic, provides a unique opportunity to study community perceptions of the impact of socio-economic upheaval on the sex trade. We conducted focus group discussions with 122 community members in rural eastern Zimbabwe in January-February 2009. Groups were homogeneous by gender and occupation and included female sex workers, married women, and men who frequented bars. The focus groups elicited discussion around changes (comparing contemporaneous circumstances in 2009 to their memories of circumstances in 2000 in the demand for, and supply of, paid sex, and how sex workers and clients adapted to these changes, and with what implications for their health and well-being. Transcripts were thematically analyzed. The analysis revealed how changing economic conditions, combined with an increased awareness and fear of HIV-changing norms and local attitudes toward sex work-had altered the demand for commercial sex. In response, sex work dispersed from the bars into the wider community, requiring female sex workers to employ different tactics to attract clients. Hyperinflation meant that sex workers had to accept new forms of payment, including sex-on-credit and commodities. Further impacting the demand for commercial sex work was a poverty-driven increase in transactional sex. The economic upheaval in Zimbabwe effectively reorganized the market for sex by reducing previously dominant forms

Gingival recession is likely associated with tongue piercings.

Science.gov (United States)

Reynolds, Mark A

2012-09-01

A convenience sample of 60 subjects (27 male; 33 female) with tongue piercings (case group) and 120 subjects (43 male; 77 female) without tongue piercings (control group), ranging in age from 13 to 28 years, were identified from a mix of races living in a geographic area of low socioeconomic status in Brazil. Subjects were recruited from school groups and university centers between January 2008 and March 2009. For each case, 2 controls were selected on a consecutive basis from the same school according to criteria that included age, gender, smoking, and previous orthodontic treatment. Exclusion criteria included individuals with systemic diseases that might compromise the immune system, as well as antibiotics within 3 months or other medications that could affect the gingival tissues. The key study factor was the use or nonuse of tongue piercings (jewelry). The analysis compared periodontal parameters, such as the occurrence, location, and severity of gingival recession, in subjects with and without tongue jewelry. Gingival recession in the anterior lingual mandibular region was assessed as the primary outcome measure. The study sample was divided according to the presence or absence of gingival recession as well as the severity (1-2, 3, and ≥ 4 mm) of gingival recession. The average age of subjects was similar in the case and control groups (18.9 versus 17.7 years, respectively). Fractures of the anterior teeth were present significantly more frequently in cases than controls (26.7% versus 11.7%, respectively; P piercings (OR = 11.0, 95% confidence interval [CI] 5.02-24.09, P <.001). The severity of recession in this region was also significantly higher (calculated using an ordinal scale) in cases than in controls (P < .001). The final multivariate logistic regression model for occurrence of gingival recession included the variables tongue jewelry (yes/no), age, male gender, and the presence of bleeding on probing in the anterior region. Subjects with tongue

Disease: H00788 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available iant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intraut... found in the disease. Developmental disorder DKC1 [HSA:1736] [KO:K11131] ... Dyskeratosis congenita is des...ezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A ... TITLE ... Further delineation of the congenital form of X-linked dyskeratosis

Gingival recession: prevalence and risk indicators among young greek adults.

Science.gov (United States)

Chrysanthakopoulos, Nikolaos A

2014-07-01

The aim of the current research was to assess the prevalence of gingival recession and to investigate possible associations among this condition, periodontal and epidemiological variables in a sample of young Greek adults in a general dental practice. A total of 1,430 young adults was examined clinically and interviewed regarding several periodontal and epidemiological variables. Collected data included demographic variables, oral hygiene habits and smoking status. Clinical examination included the recording of dental plaque, supragingival calculus presence, gingival status and buccal gingival recession. Multivariate logistic regression analysis model was performed to access the possible association between gingival recession and several periodontal and epidemiological variables as potential risk factors. The overall prevalence of gingival recession was 63.9%. The statistical analysis indicated that higher educational level [OR= 2.12, 95% CI= 0.53-8.51], cigarette smoking [OR= 1.97, 95% CI= 1.48-7.91], frequent tooth brushing [OR= 0.98, 95% CI= 0.56-1.96], presence of oral piercing [OR= 0.92, 95% CI= 0.38-1.58], presence of gingival inflammation [OR= 4.54, 95% CI= 1.68-7.16], presence of dental plaque [OR= 1.67, 95% CI= 0.68-2.83] and presence of supragingival calculus [OR=1.34, 95% CI= 0.59-1.88], were the most important associated factors of gingival recession. The observations of the current research supported the results from previous authors that several periodontal factors, educational level and smoking were significantly associated with the presence of gingival recession, while presence of oral piercing was a new factor that was found to be associated with gingival recession. Key words:Gingival recession, prevalence, risk factors, young adults.

Gingival recession in smokers and non-smokers with minimal periodontal disease.

Science.gov (United States)

Müller, Hans-Peter; Stadermann, Sabine; Heinecke, Achim

2002-02-01

Smoking is a major risk factor for destructive periodontal disease. There is limited information with regard to effects of smoking in subjects with minimal periodontal destruction. The aim of the present investigation was to assess the development of gingival recession in young adult smokers and non-smokers. 61 systemically healthy young adults, 19 to 30 years of age completed the final examination. 30 volunteers smoked at least 20 cigarettes per day, whereas 31 subjects were non-smokers. Clinical periodontal conditions were assessed 4x within a time period of 6 months. Site-specific analyses considering the correlated structure of data were performed. At the outset, 50% of subjects presented with gingival recession at 1 or more sites. There was no significant difference in the prevalence of gingival recession between non-smokers and smokers. Severe recession in excess of 2 mm affected about 23% non-smokers but only 7% smokers. Some further gingival recession developed during the 6-month observation period. In a multivariate logistic regression analysis, the risk for recession development appeared not to be influenced by smoking status after adjusting for periodontal probing depth, recession at baseline, tooth brushing frequency, gender, jaw, tooth type and site. Present data did not support the hypothesis that smokers are at an increased risk for the development of gingival recession.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Science.gov (United States)

Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L.; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H.; Barsottini, Orlando G. P.; Kawarai, Toshitaka

2016-01-01

Abstract Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/ KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot–Marie–Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot–Marie–Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/ KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot–Marie–Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot–Marie–Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot–Marie-Tooth disease (CMT2A2/HMSN2A2/ MFN2 , CMT2B1/ LMNA , CMT2B2/ MED25 , CMT2B5/ NEFL , ARCMT2F/dHMN2B/ HSPB1 , CMT2K/ GDAP1 , CMT2P/ LRSAM1 , CMT2R/ TRIM2 , CMT2S/ IGHMBP2 , CMT2T/ HSJ1 , CMTRID/ COX6A1 , ARAN-NM/ HINT and GAN/ GAN ), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/ PGN , SPG15/ ZFYVE26, SPG21/ ACP33 , SPG35/ FA2H , SPG46/ GBA2 , SPG55/ C12orf65 and SPG56/ CYP2U1 ), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum ( SLC12A6 ) . Mitochondrial disorders related to Charcot–Marie–Tooth disease type 2 were also excluded by sequencing POLG and

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Science.gov (United States)

Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

2016-01-01

Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot

Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress.

Science.gov (United States)

Papale, Ligia A; Li, Sisi; Madrid, Andy; Zhang, Qi; Chen, Li; Chopra, Pankaj; Jin, Peng; Keleş, Sündüz; Alisch, Reid S

2016-12-01

Environmental stress is among the most important contributors to increased susceptibility to develop psychiatric disorders. While it is well known that acute environmental stress alters gene expression, the molecular mechanisms underlying these changes remain largely unknown. 5-hydroxymethylcytosine (5hmC) is a novel environmentally sensitive epigenetic modification that is highly enriched in neurons and is associated with active neuronal transcription. Recently, we reported a genome-wide disruption of hippocampal 5hmC in male mice following acute stress that was correlated to altered transcript levels of genes in known stress related pathways. Since sex-specific endocrine mechanisms respond to environmental stimulus by altering the neuronal epigenome, we examined the genome-wide profile of hippocampal 5hmC in female mice following exposure to acute stress and identified 363 differentially hydroxymethylated regions (DhMRs) linked to known (e.g., Nr3c1 and Ntrk2) and potentially novel genes associated with stress response and psychiatric disorders. Integration of hippocampal expression data from the same female mice found stress-related hydroxymethylation correlated to altered transcript levels. Finally, characterization of stress-induced sex-specific 5hmC profiles in the hippocampus revealed 778 sex-specific acute stress-induced DhMRs some of which were correlated to altered transcript levels that produce sex-specific isoforms in response to stress. Together, the alterations in 5hmC presented here provide a possible molecular mechanism for the adaptive sex-specific response to stress that may augment the design of novel therapeutic agents that will have optimal effectiveness in each sex. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Science.gov (United States)

Boycott, Kym M.; Beaulieu, Chandree L.; Kernohan, Kristin D.; Gebril, Ola H.; Mhanni, Aziz; Chudley, Albert E.; Redl, David; Qin, Wen; Hampson, Sarah; Küry, Sébastien; Tetreault, Martine; Puffenberger, Erik G.; Scott, James N.; Bezieau, Stéphane; Reis, André; Uebe, Steffen; Schumacher, Johannes; Hegele, Robert A.; McLeod, D. Ross; Gálvez-Peralta, Marina; Majewski, Jacek; Ramaekers, Vincent T.; Nebert, Daniel W.; Innes, A. Micheil; Parboosingh, Jillian S.; Abou Jamra, Rami

2015-01-01

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development. PMID:26637978

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development

DEFF Research Database (Denmark)

Berglund, A.; Johannsen, T. H.; Stochholm, K.

2017-01-01

STUDY QUESTION What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inf...

Autonomy-connectedness mediates sex differences in symptoms of psychopathology

Science.gov (United States)

Bekker, Marrie H. J.; van Assen, Marcel A. L. M.

2017-01-01

Objectives This study aimed to examine if autonomy-connectedness, capacity for self-governance under the condition of connectedness, would mediate sex differences in symptoms of various mental disorders (depression, anxiety, eating disorders, antisocial personality disorder). Method Participants (N = 5,525) from a representative community sample in the Netherlands filled out questionnaires regarding the variables under study. Results Autonomy-connectedness (self-awareness, SA; sensitivity to others, SO; capacity for managing new situations, CMNS) fully mediated the sex differences in depression and anxiety, and partly in eating disorder -(drive for thinness, bulimia, and body dissatisfaction) and anti-social personality disorder characteristics. The mediations followed the expected sex-specific patterns. SO related positively to the internalizing disorder indices, and negatively to the anti-social personality disorder. SA related negatively to all disorder indices; and CMNS to all internalizing disorder indices, but positively to the anti-social personality disorder. Conclusion Treatment of depression, anxiety, but also eating disorders and the antisocial personality disorder may benefit from a stronger focus on autonomy strengthening. PMID:28771498

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Directory of Open Access Journals (Sweden)

Cali E Willet

Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Science.gov (United States)

Willet, Cali E; Makara, Mariano; Reppas, George; Tsoukalas, George; Malik, Richard; Haase, Bianca; Wade, Claire M

2015-01-01

Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.

Science.gov (United States)

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, Rinus

2017-01-01

To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3-9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD. © 2017 S. Karger AG, Basel.

Pattern of Glacier Recession in Indian Himalaya

Science.gov (United States)

Singh, Ajay; Patwardhan, Anand

All currently available climate models predict a near-surface warming trend under the influence of rising levels of greenhouse gases in the atmosphere. In addition to the direct effects on climate — for example, on the frequency of heat waves — this increase in surface temperatures has important consequences for the cryosphere subsequently hydrological cycle, particularly in regions where water supply is currently dominated by melting snow or ice. The Indian Himalayan region occupies a special place in the mountain ecosystems of the world. These geodynamically young mountains are not only important from the standpoint of climate and as a provider of life, giving water to a large part of the Indian subcontinent, but they also harbor a rich variety of flora, fauna, human communities and cultural diversity. Glaciers in this region are changing in area as well as in volume like those in other parts of the world. Studies have been carried out for recession in some of these glaciers using remote sensing as well as field observation techniques. Spatiotemporal pattern in the recession rate of the studied glaciers has been presented in this paper. Plausible causes for the recession have been also discussed. Finally, future scopes for observation and analysis in glaciers recession have been suggested.

Stream recession curves and storage variability in small watersheds

Directory of Open Access Journals (Sweden)

N. Y. Krakauer

2011-07-01

Full Text Available The pattern of streamflow recession after rain events offers clues about the relationship between watershed runoff (observable as river discharge and water storage (not directly observable and can help in water resource assessment and prediction. However, there have been few systematic assessments of how streamflow recession varies across flow rates and how it relates to independent assessments of terrestrial water storage. We characterized the streamflow recession pattern in 61 relatively undisturbed small watersheds (1–100 km² across the coterminous United States with multiyear records of hourly streamflow from automated gauges. We used the North American Regional Reanalysis to help identify periods where precipitation, snowmelt, and evaporation were small compared to streamflow. The order of magnitude of the recession timescale increases from 1 day at high flow rates (~1 mm h⁻¹ to 10 days at low flow rates (~0.01 mm h⁻¹, leveling off at low flow rates. There is significant variability in the recession timescale at a given flow rate between basins, which correlates with climate and geomorphic variables such as the ratio of mean streamflow to precipitation and soil water infiltration capacity. Stepwise multiple regression was used to construct a six-variable predictive model that explained some 80 % of the variance in recession timescale at high flow rates and 30–50 % at low flow rates. Seasonal and interannual variability in inferred storage shows similar time evolution to regional-scale water storage variability estimated from GRACE satellite gravity data and from land surface modeling forced by observed meteorology, but is up to a factor of 10 smaller. Study of this discrepancy in the inferred storage amplitude may provide clues to the range of validity of the recession curve approach to relating runoff and storage.

Low Sex Drive in Women

Science.gov (United States)

Low sex drive in women Overview Women's sexual desires naturally fluctuate over the years. Highs and lows commonly coincide ... used for mood disorders also can cause low sex drive in women. If your lack of interest ...

Financialisation, oil and the Great Recession

International Nuclear Information System (INIS)

Gkanoutas-Leventis, Angelos; Nesvetailova, Anastasia

2015-01-01

This article addresses the role of world oil price hike of 2007–08 in serving to transform the financial and banking crisis into what is commonly referred to the Great Recession. Existing literature on the global crisis of 2007–09 tends to view it as a financial or banking phenomenon, with analyses focusing mainly on state policies, governance mechanisms and market dynamics in transforming the banking crisis of 2007–08 into the economic recession of 2008-12/13 Although often attributing the global meltdown to wider phenomenon of financialisation, rarely do existing perspectives delve into the role of the commodity sector in the global credit crunch. In this paper, we aim to fill this gap, by inquiring into the role played by oil as a financial asset class in the political economy of the global crisis. - Highlights: • We study the oil price and its effects on the Great Recession. • We approach oil as a financial asset class. • We observe the transformation of oil through deregulation.

Students with Sickle Cell Anemia Participating in Recess

Science.gov (United States)

Lucas, Matthew D.; Devlin, Katharine M.

2011-01-01

The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…

Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

Science.gov (United States)

Merino, Hipólito; Senra, Carmen; Ferreiro, Fátima

2016-01-01

This study examines the relationships between neuroticism (higher-order vulnerability factor), the cognitive styles of worry, brooding and reflection (second-order vulnerability factors) and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD), with Major Depressive Disorder (MDD) and with Mixed Anxiety-Depressive Disorder (MADD). One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection), anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms.

Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

Science.gov (United States)

Merino, Hipólito; Ferreiro, Fátima

2016-01-01

This study examines the relationships between neuroticism (higher-order vulnerability factor), the cognitive styles of worry, brooding and reflection (second-order vulnerability factors) and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD), with Major Depressive Disorder (MDD) and with Mixed Anxiety-Depressive Disorder (MADD). One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection), anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms. PMID:27243462

Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

Directory of Open Access Journals (Sweden)

Hipólito Merino

Full Text Available This study examines the relationships between neuroticism (higher-order vulnerability factor, the cognitive styles of worry, brooding and reflection (second-order vulnerability factors and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD, with Major Depressive Disorder (MDD and with Mixed Anxiety-Depressive Disorder (MADD. One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection, anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms.

Formulating the spring discharge-function for the recession period ...

Indian Academy of Sciences (India)

College of Agricultural Engineering & Post Harvest Technology (CAEPHT),. Central Agricultural ... during the recession period is the key to its proper management. The spring .... In equation (1), Q is the recession flow, t is time, and a, b are ...

Sex difference in link between interleukin-6 and stress.

Science.gov (United States)

Jankord, Ryan; Turk, James R; Schadt, James C; Casati, Jennifer; Ganjam, Venkataseshu K; Price, Elmer M; Keisler, Duane H; Laughlin, M Harold

2007-08-01

Inflammation contributes to disease development, and the neuroimmunoendocrine interface is a potential site of action for inflammatory products like IL-6 to affect health. Although plasma IL-6 can stimulate the activity of the hypothalamo-pituitary-adrenocortical (HPA) axis, the precise role, if any, for IL-6 in the HPA response to nonimmunological stressors is unclear. The purpose of this study was to test the hypothesis that IL-6 in the stalk median eminence (SME) can be directly involved in stimulating ACTH secretion in response to acute stress in female swine. This study was undertaken as a result of finding IL-6 localized to the external zone of the SME next to the hypophyseal portal vessels. Results indicate that content of IL-6 in the SME decreases in response to acute stress along with an increase in nuclear phosphorylated signal transducer and activator of transcription-3 (pSTAT-3) in pituitary corticotrophs and a simultaneous increase in plasma concentrations of IL-6 and ACTH. Furthermore, we show that females concomitantly display greater SME content of IL-6 and greater HPA responsiveness to stress, thereby suggesting that IL-6 release from the SME is an integral factor contributing to enhanced stress responsiveness in females. Our results provide evidence for a direct link between IL-6 and ACTH release and reveal a sex difference in this relationship.

Sex Difference in Link between IL-6 and Stress

Science.gov (United States)

Jankord, Ryan; Turk, James R.; Schadt, James C.; Casati, Jennifer; Ganjam, Venkataseshu K.; Price, Elmer M.; Keisler, Duane H.; Laughlin, M. Harold

2009-01-01

Inflammation contributes to disease development, and the neuro-immuno-endocrine interface is a potential site of action for inflammatory products like IL-6 to affect health. Although plasma IL-6 can stimulate the activity of the hypothalamo-pituitary-adrenocortical (HPA) axis, the precise role, if any, for IL-6 in the HPA response to non-immunological stressors is unclear. The purpose of this study was to test the hypothesis that IL-6 in the stalk median eminence (SME) can be directly involved in stimulating ACTH secretion in response to acute stress in female swine. This study was undertaken as a result of finding IL-6 localized to the external zone of the stalk median eminence (SME) next to the hypophyseal portal vessels. Results indicate that content of IL-6 in the SME decreases in response to acute stress along with an increase in phosphorylation of STAT3 in the anterior pituitary and a simultaneous increase in plasma concentrations of IL-6 and ACTH. Furthermore, we show that females concomitantly display greater SME content of IL-6 and greater HPA responsiveness to stress, thereby suggesting that IL-6 release from the SME is an integral factor contributing to enhanced stress responsiveness in females. Our results provide evidence for a direct link between IL-6 and ACTH release and reveal a sex difference in this relationship. PMID:17510233

Recess Physical Activity and Perceived School Environment among Elementary School Children

Directory of Open Access Journals (Sweden)

Kaori Ishii

2014-07-01

Full Text Available Differences in recess physical activity (PA according to perceived school environment among elementary school children were examined. Participants were 103 children from two schools in Japan. PA was measured using accelerometry for seven consecutive days. Time spent in sedentary or PA (light, moderate, or vigorous during their morning recess (25 min and lunch recess (15 min was determined. The School Physical Activity Environment Scale (three factors: equipment, facility, and safety was used to investigate perceived school environment. Environmental factor scores were assigned to low or high groups for each factor by median. An analysis of covariance, with grade as the covariate, was conducted separately by gender to examine differences in PA between two groups. During lunch recess, boys in the high-equipment group spent significantly more time in moderate PA (high: 1.5; low: 0.8 min whereas girls in this group spent less time in light PA (9.3, 11.0. Boys in the high-facility group spent significantly less time in sedentary (2.3, 3.9 and more time in vigorous PA (2.4, 1.4 during lunch recess, and girls spent more time in moderate (2.1, 1.2 and vigorous PA (1.9, 1.3 during morning recess. Differences were observed in recess PA according to school environment perceptions. The present study may be useful for further intervention studies for the promotion of PA during recess.

A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan