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https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#1
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29331681/endogenous-cortisol-in-keratinized-matrices-systematic-determination-of-baseline-cortisol-levels-in-hair-and-the-influence-of-sex-age-and-hair-color
#2
T M Binz, L Rietschel, F Streit, M Hofmann, J Gehrke, M Herdener, B B Quednow, N G Martin, M Rietschel, T Kraemer, M R Baumgartner
The measurement of hair cortisol is increasingly used to measure long-term cumulative cortisol levels and investigate its role as an important stress mediator. In this study a comparative statistical analysis of five independent studies (all analyzed in our laboratory) was performed to investigate baseline ranges of cortisol values in hair and evaluate potential influences of sex, age and hair color. Cortisol concentrations in hair of 554 subjects were measured and a comparative statistical analysis was performed...
December 24, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29331506/hepatocyte-estrogen-receptor-alpha-mediates-estrogen-action-to-promote-reverse-cholesterol-transport-during-western-type-diet-feeding
#3
Lin Zhu, Jeanne Shi, Thao N Luu, Joshua C Neuman, Elijah Trefts, Sophia Yu, Brian T Palmisano, David H Wasserman, MacRae F Linton, John M Stafford
OBJECTIVE: Hepatocyte deletion of estrogen receptor alpha (LKO-ERα) worsens fatty liver, dyslipidemia, and insulin resistance in high-fat diet fed female mice. However, whether or not hepatocyte ERα regulates reverse cholesterol transport (RCT) in mice has not yet been reported. METHODS AND RESULTS: Using LKO-ERα mice and wild-type (WT) littermates fed a Western-type diet, we found that deletion of hepatocyte ERα impaired in vivo RCT measured by the removal of 3H-cholesterol from macrophages to the liver, and subsequently to feces, in female mice but not in male mice...
December 29, 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/29330911/title-prognostic-significance-of-arterial-stiffness-and-osteoprotegerin-in-patients-with-stable-coronary-artery-disease
#4
Gerasimos Siasos, Evangelos Oikonomou, Konstantinos Maniatis, Georgios Georgiopoulos, Eleni Kokkou, Vasiliki Tsigkou, Marina Zaromitidou, Alexis Antonopoulos, Manolis Vavuranakis, Christodoulos Stefanadis, Athanasios G Papavassiliou, Dimitris Tousoulis
BACKGROUND: Arterial stiffness and vascular calcification significantly contribute to coronary atherosclerosis progression. The prognostic value of increased arterial stiffness and vascular calcification in subjects with stable coronary artery disease (CAD) after percutaneous coronary intervention(PCI) is currently under question. MATERIALS AND METHODS: We randomly enrolled 262 patients with stable CAD one month after successful PCI. Carotid femoral pulse wave velocity (PWV) was measured as a well-established index of central aortic stiffness...
January 13, 2018: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29330698/circulating-hormones-and-mammographic-density-in-premenopausal-women
#5
Kimberly A Bertrand, A Heather Eliassen, Susan E Hankinson, Bernard A Rosner, Rulla M Tamimi
Prior research suggests that several endogenous hormones in premenopausal women are associated with breast cancer risk; however, few studies have evaluated associations of endogenous hormones with mammographic density (MD) in premenopausal women. We conducted a cross-sectional study of plasma hormone levels in relation to MD among 634 cancer-free premenopausal women in the Nurses' Health Study II. We measured percent MD from screening mammograms using a computer-assisted method. We assayed estradiol, estrone, and estrone sulfate in blood samples timed in early follicular and mid-luteal phases of the menstrual cycle as well as testosterone, androstenedione, progesterone, dehydroepiandrosterone (DHEA), DHEA sulfate, sex hormone-binding globulin (SHBG), and anti-Müllerian hormone in luteal or untimed samples...
January 12, 2018: Hormones & Cancer
https://www.readbyqxmd.com/read/29330242/patient-perspectives-on-discussions-of-electronic-cigarettes-in-primary-care
#6
Mark P Doescher, Ming Wu, Elizabeth Rainwater, Ali S Khan, Dorothy A Rhoades
PURPOSE: Patient preferences regarding the role of the primary care provider (PCP) in discussing electronic cigarette (e-cigarette) use are unknown. METHODS: We administered a cross-sectional survey to 568 adult patients in a family medicine clinic to explore e-cigarette use, sources of information on e-cigarettes, perceived knowledge about e-cigarette health effects, views regarding PCP knowledge of e-cigarettes, interest in discussing e-cigarettes with PCPs and preferred format for e-cigarette information...
January 2018: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/29329750/women-and-the-experience-of-pain-and-opioid-use-disorder-a-literature-based-commentary
#7
Andrew L Koons, Marna Rayl Greenberg, Robert D Cannon, Gillian A Beauchamp
It is generally understood that pain experience and opioid abuse have relied on male-dominated models. However, sex and gender play a role in both pain experience and opioid use disorder. Using the previously validated Texas Tech University Health Sciences Center Sex and Gender Specific Health PubMed Advanced Search Tool, the authors used pertinent literature to develop this literature-based commentary on sex and gender differences in pain experience and opioid use disorder. Women report their experience of pain more frequently, have increased rates of diagnoses related to pain, have increased pain sensitivity, and have a variable response to pain and analgesia...
January 9, 2018: Clinical Therapeutics
https://www.readbyqxmd.com/read/29329524/uncovering-the-evolutionary-history-of-neo-xy-sex-chromosomes-in-the-grasshopper-ronderosia-bergii-orthoptera-melanoplinae-through-satellite-dna-analysis
#8
Octavio M Palacios-Gimenez, Diogo Milani, Bernardo Lemos, Elio R Castillo, Dardo A Martí, Erica Ramos, Cesar Martins, Diogo C Cabral-de-Mello
BACKGROUND: Neo-sex chromosome systems arose independently multiple times in evolution, presenting the remarkable characteristic of repetitive DNAs accumulation. Among grasshoppers, occurrence of neo-XY was repeatedly noticed in Melanoplinae. Here we analyzed the most abundant tandem repeats of R. bergii (2n = 22, neo-XY♂) using deep Illumina sequencing and graph-based clustering in order to address the neo-sex chromosomes evolution. RESULTS: The analyses revealed ten families of satDNAs comprising about ~1% of the male genome, which occupied mainly C-positive regions of autosomes...
January 8, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29329467/low-aromatase-activity-and-estradiol-sex-hormone-binding-globulin-ratio-are-associated-with-total-hip-bone-mineral-density-and-the-presence-of-osteoporosis-a-study-in-chinese-postmenopausal-women
#9
Hai-Juan Liu, Jun Yan, Yan Li, Fang-Yuan Zhou, Xu-Dong Su, Hui-Jing Fan, Jie Bai, Guang-Zhen Zhang
Several groups have reported the important role of estradiol (E2) and testosterone (T) in postmenopausal osteoporosis (PMOP). Because aromatase catalyzes the conversion of T to E2, the purpose of this study was to determine the influence of aromatase activity on the bone mineral density (BMD) in postmenopausal women. A total of 344 postmenopausal women were selected for this study. Serum E2, T, sex hormone-binding globulin (SHBG), calcium (Ca), alkaline phosphatase (ALP), C-terminal telopeptide of type I collagen (CTX), and procollagen type I amino-terminal propeptide (PINP) were examined...
January 2018: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29329290/morc2b-is-essential-for-meiotic-progression-and-fertility
#10
Baolu Shi, Jiangyang Xue, Jian Zhou, Seth D Kasowitz, Yuanwei Zhang, Guanxiang Liang, Yongjuan Guan, Qinghua Shi, Mingxi Liu, Jiahao Sha, Xiaoyan Huang, P Jeremy Wang
The microrchidia (MORC) family proteins are chromatin-remodelling factors and function in diverse biological processes such as DNA damage response and transposon silencing. Here, we report that mouse Morc2b encodes a functional germ cell-specific member of the MORC protein family. Morc2b arose specifically in the rodent lineage through retrotransposition of Morc2a during evolution. Inactivation of Morc2b leads to meiotic arrest and sterility in both sexes. Morc2b-deficient spermatocytes and oocytes exhibit failures in chromosomal synapsis, blockades in meiotic recombination, and increased apoptosis...
January 12, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29328538/conflict-between-heterozygote-advantage-and-hybrid-incompatibility-in-haplodiploids-and-sex-chromosomes
#11
Ana-Hermina Ghenu, Alexandre Blanckaert, Roger K Butlin, Jonna Kulmuni, Claudia Bank
In many diploid species the sex chromosomes play a special role in mediating reproductive isolation. In haplodiploids, where females are diploid and males haploid, the whole genome behaves similarly to the X/Z chromosomes of diploids. Therefore, haplodiploid systems can serve as a model for the role of sex chromosomes in speciation and hybridization. A previously described population of Finnish Formica wood ants displays genome-wide signs of ploidally and sexually antagonistic selection resulting from hybridization...
January 12, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29327827/differences-in-100-m-sprint-performance-and-skeletal-muscle-mass-between-elite-male-and-female-sprinters
#12
Takashi Abe, Scott J Dankel, Samuel L Buckner, Matthew B Jessee, Kevin T Mattocks, J Grant Mouser, Zachary W Bell, Jeremy P Loenneke
BACKGROUND: The sex difference in 100-m sprint performance between the world's best athletes is approximately 10%. We hypothesized that skeletal muscle mass (SM) relative to body mass may be a major factor contributing to this difference. The aim of this study was to examine the sex difference in absolute and relative SM and sprint performance in male and female sprinters. METHODS: We analyzed the SM of male (n=37) and female (n=26) 100-m sprinters; the sample was divided into two subgroups within each sex according to personal best 100-m time: 10...
January 10, 2018: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29327718/epithelioid-fibrous-histiocytoma-molecular-characterization-of-alk-fusion-partners-in-23-cases
#13
Brendan C Dickson, David Swanson, George S Charames, Christopher Dm Fletcher, Jason L Hornick
Epithelioid fibrous histiocytoma is a rare and distinctive cutaneous neoplasm. Most cases harbor ALK rearrangement and show ALK overexpression, which distinguish this neoplasm from conventional cutaneous fibrous histiocytoma and variants. SQSTM1 and VCL have previously been shown to partner with ALK in one case each of epithelioid fibrous histiocytoma. The purpose of this study was to examine a large cohort of epithelioid fibrous histiocytomas by next-generation sequencing to characterize the nature and prevalence of ALK fusion partners...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29327520/risk-factors-of-clinical-and-immunological-failure-in-south-indian-cohort-on-generic-antiretroviral-therapy
#14
Mucheli Shravan Sadashiv, Priscilla Rupali, Abi Manesh, Rajesh Kannangai, Ooriapadickal Cherian Abraham, Susanne A Pulimood, Rajiv Karthik, S Rajkumar, Kurien Thomas
Background: Since the time of NACO Antiretroviral (ART) roll-out, generic ART has been the mainstay of therapy. There are many studies documenting the efficacy of generic ART but with the passage of time, failure of therapy is on the rise. As institution of second line ART has significant financial implications both for a program and for an individual it is imperative that we determine factors which contribute towards treatment failure in a cohort of patients on generic antiretroviral therapy...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29327442/transplantation-or-rurality-migration-and-hiv-risk-among-chinese-men-who-have-sex-with-men-in-the-urban-areas
#15
Chuncheng Liu, Rong Fu, Weiming Tang, Bolin Cao, Stephen W Pan, Chongyi Wei, Joseph D Tucker, M Kumi Smith
INTRODUCTION: Migration of men who have sex with men (MSM) from rural to urban areas is common across low- and middle-income countries and is widely believed to contribute to elevated HIV risk among migrant MSM in urban areas. Little consensus exists on whether their risk is due to their transplantation or their being from resource-constrained rural areas. This study seeks to clarify the relationship between migration and HIV risks by comparing differences in HIV-related risky sexual behaviours and healthcare utilization across competing conceptualizations of migratory statuses...
January 2018: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/29327213/add-on-treatment-with-curcumin-has-antidepressive-effects-in-thai-patients-with-major-depression-results-of-a-randomized-double-blind-placebo-controlled-study
#16
Buranee Kanchanatawan, Sookjaroen Tangwongchai, Atapol Sughondhabhirom, Siriluck Suppapitiporn, Solaphat Hemrunrojn, André F Carvalho, Michael Maes
Activation of immune-inflammatory and oxidative-nitrosative (IO&NS) stress pathways plays a role in major depression (MDD). Evidence suggests that curcumin (500-1000 mg/day), a polyphenol with strong anti-IO&NS properties, may have efficacy either as monotherapy or as an adjunctive treatment for depression. Further controlled trials with extended treatment periods (> 8 weeks) and higher curcumin doses are warranted. This 12-week study was carried out to examine the effects of adjunctive curcumin for the treatment of MDD...
January 11, 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29326052/sensitivity-of-airway-cough-related-afferents-is-influenced-by-female-sex-hormones
#17
Natalia Kavalcikova-Bogdanova, Lea Kovacikova, Tomas Buday, Kamil Biringer, Jana Sivakova, Vladimir Calkovsky, Martina Antosova, Jana Plevkova
Chronic hypersensitivity cough syndrome affects mainly postmenopausal women; however, the pathogenesis of cough hypersensitivity in this demographic is not entirely understood. The role of sex hormones in cough has never been studied in detail; however, sex hormones seem to play an important role in the lung health of women.
January 8, 2018: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29326036/exploring-young-mothers-experiences-with-postpartum-contraception-in-ottawa-results-from-a-multi-methods-qualitative-study
#18
Elyse Fortier, Angel M Foster
OBJECTIVES: Postpartum contraception plays a significant role in reducing subsequent pregnancy. However, young mothers in Ottawa, the capital of Canada, face various barriers when trying to access contraception after delivery. Through this project we aimed to explore these barriers and understand the decision-making processes of young mothers surrounding postpartum contraception. STUDY DESIGN: We conducted 10 semi-structured in-depth interviews with young mothers living in Ottawa who had experienced a subsequent pregnancy within 24 months of their first childbirth...
January 8, 2018: Contraception
https://www.readbyqxmd.com/read/29325734/fat-mass-and-obesity-associated-gene-rs9939609-polymorphism-is-a-potential-biomarker-of-recurrent-venous-thromboembolism-in-male-but-not-in-female-patients
#19
Abrar Ahmad, Ashfaque A Memon, Jan Sundquist, Peter J Svensson, Bengt Zöller, Kristina Sundquist
Multiple genetic variations have been identified in FTO (fat mass and obesity-associated) gene. Among them, FTO rs9939609 polymorphism is shown to be associated with the risk of primary venous thromboembolism (VTE). However, its role in recurrent VTE is not known. The aim of our study was to investigate the association between FTO rs9939609 polymorphism and the risk of VTE recurrence in a prospective follow-up study in both male and female patients. FTO rs9939609 polymorphism (T/A) was analyzed in the Malmö thrombophilia study (MATS, followed for ~10 years) by using TaqMan PCR...
January 8, 2018: Gene
https://www.readbyqxmd.com/read/29325447/longitudinal-association-of-amyloid-beta-and-anxious-depressive-symptoms-in-cognitively-normal-older-adults
#20
Nancy J Donovan, Joseph J Locascio, Gad A Marshall, Jennifer Gatchel, Bernard J Hanseeuw, Dorene M Rentz, Keith A Johnson, Reisa A Sperling
OBJECTIVE: To understand the role of depressive symptoms in preclinical Alzheimer's disease, it is essential to define their temporal relationship to Alzheimer's proteinopathies in cognitively normal older adults. The study objective was to examine associations of brain amyloid beta and longitudinal measures of depression and depressive symptom clusters in a cognitively normal sample of older adults. METHOD: A total of 270 community-dwelling, cognitively normal elderly individuals underwent baseline Pittsburgh compound B (PiB) positron emission tomography (PET) measures of cortical aggregate amyloid beta and annual assessments with the 30-item Geriatric Depression Scale (GDS)...
January 12, 2018: American Journal of Psychiatry
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