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disorders of sexual differentiation

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https://www.readbyqxmd.com/read/29332494/an-evaluation-of-adolescent-and-young-adult-re-victimization-experiences-problematic-substance-use-and-negative-consequences
#1
D J Angelone, Tiffany Marcantonio, Jessica Melillo
We investigated substance use and negative consequences in women who experienced an initial sexual assault (SA) in high school and subsequently in college. More than 650 participants completed questionnaires assessing substance use/consequences, SA history, and posttraumatic stress disorder (PTSD) symptomology. Revictimized women reported differential substance use/consequences relative to controls underscoring the need to conceptualize adolescence as a key developmental period with a unique pathway to a subsequent SA, especially in association with substance use...
June 1, 2017: Violence Against Women
https://www.readbyqxmd.com/read/29331353/mechanisms-of-sex-differences-in-fear-and-posttraumatic-stress-disorder
#2
REVIEW
Teniel Sonya Ramikie, Kerry James Ressler
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...
November 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#3
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29305568/novel-compound-heterozygous-variants-in-the-lhcgr-gene-identified-in-a-subject-with-leydig-cell-hypoplasia-type-1
#4
Yufei Xu, Yulin Chen, Niu Li, Xuyun Hu, Guoqiang Li, Yu Ding, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. CASE PRESENTATION: Clinical data were collected from the subject and analyzed...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29294747/patterns-of-service-utilization-among-women-who-are-victims-of-domestic-violence-the-contribution-of-cultural-background-characteristics-of-violence-and-psychological-distress
#5
Anat Ben-Porat
The study examined patterns of utilization of various services among female victims of domestic violence in Israel. The study looked at how cultural background, characteristics of violence, attempts at separation from partner, and women's emotional distress contributed to patterns of service utilization. The sample of participants included 499 women who arrived at 12 shelters in Israel. Of those participants, 142 were Jewish, 156 were Arab, 125 had been born in the former Soviet Union (FSU), and 76 had been born in Ethiopia...
May 1, 2017: Journal of Interpersonal Violence
https://www.readbyqxmd.com/read/29258561/a-pilot-investigation-on-dna-methylation-modifications-associated-with-complex-posttraumatic-symptoms-in-elderly-traumatized-in-childhood
#6
Zoya Marinova, Andreas Maercker, Edna Grünblatt, Tomasz K Wojdacz, Susanne Walitza
OBJECTIVE: Complex posttraumatic stress disorder (CPTSD) is a newly proposed diagnosis in the International Classification of Diseases-version 11, which is currently intensively investigated. Childhood trauma is regarded as main source of CPTSD symptoms, even in later life. Induction of DNA methylation changes by childhood trauma may contribute to its long-lasting adverse health consequences. The current study analyzed the correlation of genome-wide DNA methylation profiles with complex posttraumatic sequelae in buccal epithelial cells from 31 elderly former indentured child laborers (Verdingkinder) using the Infinium Illumina 450k Human DNA methylation chip...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29247923/distinct-pathological-profiles-of-inmates-showcasing-cluster-b-personality-traits-mental-disorders-and-substance-use-regarding-violent-behaviors
#7
Laura Dellazizzo, Jules R Dugré, Marieke Berwald, Marie-Christine Stafford, Gilles Côté, Stéphane Potvin, Alexandre Dumais
High rates of violence are found amid offenders with severe mental illnesses (SMI), substance use disorders (SUDs) and Cluster B personality disorders. Elevated rates of comorbidity lead to inconsistencies when it comes to this relationship. Furthermore, overlapping Cluster B personality traits have been associated with violence. Using multiple correspondence analysis and cluster analysis, this study was designed to differentiate profiles of 728 male inmates from penitentiary and psychiatric settings marked by personality traits, SMI and SUDs following different violent patterns...
December 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29245299/the-introspection-on-the-diagnosis-and-treatment-process-of-a-case-of-guillain-barr%C3%A3-syndrome-gbs-attributed-to-systemic-lupus-erythematosus-sle-a-case-report
#8
Nan Zhang, Jie Cao, Meng Zhao, Li Sun
RATIONALE: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory connective tissue disorder. It may cause neurologic damage which is mainly characterized by central and mental system, while peripheral sexual damage is relatively rare in which Guillain-Barré Syndrome (GBS) as the first performance is more rare . GBS is an autoimmune peripheral neuropathy usually triggered by an antecedent bacterial or viral infection, with SLE being a rare cause. PATIENT CONCERNS: A 65-year-old male presented to the hospital with progressive numbness and adynamia in extremities...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29243442/-regression-analysis-of-serum-bone-metabolic-markers-and-traditional-chinese-medicine-syndromes-in-patients-with-ckd-mbd
#9
Hai-Ming Yang, Xian-Jie Meng, Wei Wu, Ying-Lu Liu, Xiao-Juan Zhai
To analyze the interdependent relationship between serum bone metabolic markers and traditional Chinese medicine (TCM) syndromes in patients with chronic kidney disease (stages 3 and 4)-related mineral and bone disorder (CKD-MBD), in order to provide the objective basis for exploring the rules of TCM syndrome differentiation in patients with CKD-MBD. The retrospective survey was conducted to collect 105 cases with CKD (stages 3 and 4)-MBD. General clinical indexes, frequency of TCM syndromes and distribution of TCM syndrome type were investigated...
October 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29234280/blunted-diurnal-cortisol-activity-in-healthy-adults-with-childhood-adversity
#10
Yuliya I Kuras, Naomi Assaf, Myriam V Thoma, Danielle Gianferante, Luke Hanlin, Xuejie Chen, Alexander Fiksdal, Nicolas Rohleder
Childhood adversity, such as neglect, or physical, emotional, or sexual abuse, is prevalent in the U.S. and worldwide, and connected to an elevated incidence of disease in adulthood. A pathway in this relationship might be altered hypothalamic-pituitary-adrenal (HPA) axis functioning, as a result of differential hippocampal development in early life. A blunted diurnal cortisol slope is a precursor for many disorders. While studies have focused on HPA reactivity in relation to childhood adversity, there has been markedly less research on basal HPA functioning in those with low-to-moderate adversity...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29224111/prenatal-testosterone-programming-of-insulin-resistance-in-the%C3%A2-female-sheep
#11
Muraly Puttabyatappa, Vasantha Padmanabhan
Insulin resistance, a common feature of metabolic disorders such as obesity, nonalcoholic fatty liver disease, metabolic syndrome, and polycystic ovary syndrome, is a risk factor for development of diabetes. Because sex hormones orchestrate the establishment of sex-specific behavioral, reproductive, and metabolic differences, a role for them in the developmental origin of insulin resistance is also to be expected. Female sheep exposed to male levels of testosterone during fetal life serve as an excellent translational model for delineating programming of insulin resistance...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#12
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: 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. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29219112/haploinsufficiency-of-dmrt-gene-cluster-in-a-case-with-46-xy-ovotesticular-disorder-of-sexual-development
#13
Metin Eser, Akif Ayaz
BACKGROUND: Ovotesticular disorder is characterized by the presence of testicular tissue and ovarian tissue in the same individual. Single gen mutations such as SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development. CASE REPORT: Herein, we reported a 3 month-old phenotypically female detected tissues differentiated both Mullerian duct and Wolffian ducts on pathological analysis of laparoscopic biopsy material. In our case observed 46,XY,der(9)t(3;9)(p25;p24) on chromosomal analysis were detected deletion of 9p24...
December 8, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29196732/human-crmp4-mutation-and-disrupted-crmp4-expression-in-mice-are-associated-with-asd-characteristics-and-sexual-dimorphism
#14
Atsuhiro Tsutiya, Yui Nakano, Emily Hansen-Kiss, Benjamin Kelly, Masugi Nishihara, Yoshio Goshima, Don Corsmeier, Peter White, Gail E Herman, Ritsuko Ohtani-Kaneko
Autism spectrum disorders (ASD) are more common among boys than girls. The mechanisms responsible for ASD symptoms and their sex differences remain mostly unclear. We previously identified collapsin response mediator protein 4 (CRMP4) as a protein exhibiting sex-different expression during sexual differentiation of the hypothalamic sexually dimorphic nucleus. This study investigated the relationship between the sex-different development of autistic features and CRMP4 deficiency. Whole-exome sequencing detected a de novo variant (S541Y) of CRMP4 in a male ASD patient...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29190620/four-novel-nr5a1-mutations-in-46-xy-gonadal-dysgenesis-patients-including-frameshift-mutations-with-altered-subcellular-sf-1-localization
#15
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker, Susanne Ledig
46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we retrospectively performed sequence analyses of the NR5A1 (SF-1) gene in 84 patients with complete, partial, and syndromic forms of 46,XY GD...
December 1, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29178636/a-novel-splice-site-variant-in-cyp11a1-in-trans-with-the-p-e314k-variant-in-a-male-patient-with-congenital-adrenal-insufficiency
#16
Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, Jennifer M Gass, Thomas R Caulfield, Paldeep S Atwal
BACKGROUND: The CYP11A1 gene encodes the cytochrome P450 side-chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29176693/a-study-of-splicing-mutations-in-disorders-of-sex-development
#17
Flavia Leme de Calais, Lindsay D Smith, Michela Raponi, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior, Maricilda Palandi de Mello, Diana Baralle
The presence of splicing sequence variants in genes responsible for sex development in humans may compromise correct biosynthesis of proteins involved in the normal development of gonads and external genitalia. In a cohort of Brazilian patients, we identified mutations in HSD17B3 and SRD5A2 which are both required for human sexual differentiation. A number of these mutations occurred within regions potentially critical for splicing regulation. Minigenes were used to validate the functional effect of mutations in both genes...
November 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#18
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29120276/personality-disorder-features-and-paraphilic-interests-among-undergraduates-differential-relations-and-potential-antecedents
#19
Ashley L Watts, Madeline G Nagel, Robert D Latzman, Scott O Lilienfeld
We examined the relations between: (1) narcissism, psychopathy, DSM-5 personality disorder symptom counts; and (2) paraphilic interests among undergraduates (N = 608). Base rates of paraphilic interests were appreciable. The disinhibition and meanness features of psychopathy and the entitlement and exploitativeness features of narcissism were robustly associated with paraphilic interests, particularly sexual sadism, whereas the boldness features of narcissism and psychopathy were essentially unrelated to these interests...
November 9, 2017: Journal of Personality Disorders
https://www.readbyqxmd.com/read/29110024/parenting-style-and-mental-disorders-in-a-nationally-representative-sample-of-us-adolescents
#20
John David Eun, Diana Paksarian, Jian-Ping He, Kathleen Ries Merikangas
PURPOSE: We examined associations between parenting style and past-year mental disorders in a nationally representative cross-sectional survey of US adolescents and whether the associations differed by adolescent demographic characteristics. METHODS: The sample included 6483 adolescents aged 13-18 years who were interviewed for a full range of DSM-IV mental disorders. Parenting style was assessed by adolescent-reported maternal and paternal care and control using items from the Parental Bonding Instrument...
November 6, 2017: Social Psychiatry and Psychiatric Epidemiology
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