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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/27916885/development-of-genetic-testing-for-fragile-x-syndrome-and-associated-disorders-and-estimates-of-the-prevalence-of-fmr1-expansion-mutations
#1
REVIEW
James N Macpherson, Anna Murray
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis...
November 30, 2016: Genes
https://www.readbyqxmd.com/read/27916452/the-normal-range-of-fmr1-triple-cgg-repeats-may-be-associated-with-primary-ovarian-insufficiency-in-china
#2
Cui-Ling Lu, Rong Li, Xin-Na Chen, Yang-Ying Xu, Li-Ying Yan, Jie Yan, Yao-Yao Zhang, Hong-Yan Jin, Wen-Xin Zhang, Jie Qiao, Xiu-Mei Zhen
The aim of this study was to investigate the relationship between normal Fragile X mental retardation gene 1 (FMR1) CGG repeat numbers and primary ovarian insufficiency (POI) occurrence or subsequent resumption of ovarian function. A total of 122 women with POI and 105 controls were followed up and analysed in our centre. The prevalence of premutation and intermediate range of FMR1 CGG repeats in Han Chinese women with POI was only 0.81% (1/122) and 1.64% (2/122), respectively. The risk of POI occurrence for less than 26 CGG repeats and 29 or more CGG repeats in allele1 (smaller allele) was significantly higher than that for 26-28 CGG repeats (odds ratio 13...
November 15, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#3
REVIEW
Shannon D Sullivan, Philip M Sarrel, Lawrence M Nelson
Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27908594/rucaparib-in-relapsed-platinum-sensitive-high-grade-ovarian-carcinoma-ariel2-part-1-an-international-multicentre-open-label-phase-2-trial
#4
Elizabeth M Swisher, Kevin K Lin, Amit M Oza, Clare L Scott, Heidi Giordano, James Sun, Gottfried E Konecny, Robert L Coleman, Anna V Tinker, David M O'Malley, Rebecca S Kristeleit, Ling Ma, Katherine M Bell-McGuinn, James D Brenton, Janiel M Cragun, Ana Oaknin, Isabelle Ray-Coquard, Maria I Harrell, Elaina Mann, Scott H Kaufmann, Anne Floquet, Alexandra Leary, Thomas C Harding, Sandra Goble, Lara Maloney, Jeff Isaacson, Andrew R Allen, Lindsey Rolfe, Roman Yelensky, Mitch Raponi, Iain A McNeish
BACKGROUND: Poly(ADP-ribose) polymerase (PARP) inhibitors have activity in ovarian carcinomas with homologous recombination deficiency. Along with BRCA1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homologous recombination deficiency. In ARIEL2, we assessed the ability of tumour genomic LOH, quantified with a next-generation sequencing assay, to predict response to rucaparib, an oral PARP inhibitor. METHODS: ARIEL2 is an international, multicentre, two-part, phase 2, open-label study done at 49 hospitals and cancer centres in Australia, Canada, France, Spain, the UK, and the USA...
November 28, 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27883256/detecting-agg-interruptions-in-male-and-female-fmr1-premutation-carriers-by-single-molecule-sequencing
#5
Simon Ardui, Valerie Race, Alena Zablotskaya, Matthew S Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R Vermeesch
The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. The risk for a premutation to expand depends mainly on the number of CGG units and the presence of AGG interruptions in the CGG repeat...
November 24, 2016: Human Mutation
https://www.readbyqxmd.com/read/27861765/genetics-of-primary-ovarian-insufficiency
#6
REVIEW
R Rossetti, I Ferrari, M Bonomi, L Persani
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. In most cases POI remains classified as idiopathic...
November 16, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27858857/primary-amenorrhea-after-bone-marrow-transplantation-and-adjuvant-chemotherapy-misdiagnosed-as-disorder-of-sex-development-a-case-report
#7
He Huang, Qinjie Tian
INTRODUCTION: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27836978/a-homozygous-nobox-truncating-variant-causes-defective-transcriptional-activation-and-leads-to-primary-ovarian-insufficiency
#8
Lin Li, Binbin Wang, Wei Zhang, Beili Chen, Minna Luo, Jing Wang, Xi Wang, Yunxia Cao, Kehkooi Kee
STUDY QUESTION: Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation of multiple oocyte-related genes? SUMMARY ANSWER: A novel homozygous truncating mutation of NOBOX was confirmed to exhibit a loss-of-function effect using well-defined molecular and functional analyses. WHAT IS KNOWN ALREADY: Several NOBOX mutations have been reported to be associated with POI but all of them are heterozygous mutations...
November 11, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27836977/impaired-telomere-length-and-telomerase-activity-in-peripheral-blood-leukocytes-and-granulosa-cells-in-patients-with-biochemical-primary-ovarian-insufficiency
#9
Xiaofei Xu, Xinxia Chen, Xiruo Zhang, Yixun Liu, Zhao Wang, Peng Wang, Yanzhi Du, Yingying Qin, Zi-Jiang Chen
STUDY QUESTION: Are telomere length and telomerase activity associated with biochemical primary ovarian insufficiency (POI)? SUMMARY ANSWER: Shortened telomere length and diminished telomerase activity were associated with biochemical POI. WHAT IS KNOWN ALREADY: POI is a result of pathological reproductive aging and encompasses occult, biochemical and overt stages. Studies have indicated telomere length as a biomarker for biological aging...
November 11, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#10
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27802094/mcm8-and-mcm9-nucleotide-variants-in-women-with-primary-ovarian-insufficiency
#11
Swapna Desai, Michelle Wood-Trageser, Jelena Matic, Jaqueline Chipkin, Huaiyang Jiang, Anne Bachelot, Jerome Dulon, Cinzia Sala, Caterina Barbieri, Massimiliano Cocca, Daniela Toniolo, Touraine Philippe, Selma Witchel, Aleksandar Rajkovic
OBJECTIVE: To assess the frequency of variants, including biallelic pathogenic variants, in MCM8 and MCM9, other genes related to MCM8/9 and DNA damage repair (DDR) pathway in participants with primary ovarian insufficiency (POI). DESIGN: MCM8, MCM9 and genes encoding DDR proteins that have been implicated in reproductive aging were sequenced among POI participants. SETTING: Academic research institution Participants: All were diagnosed with POI prior to the age of 40 and presented with elevated FSH levels...
November 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27793381/hormone-replacement-therapy-in-young-women-with-surgical-primary-ovarian-insufficiency
#12
REVIEW
Philip M Sarrel, Shannon D Sullivan, Lawrence M Nelson
Bilateral oophorectomy performed in women before they are menopausal induces surgical primary ovarian insufficiency, an acute and chronic deficiency of the hormones normally produced by the ovaries. Without hormone replacement therapy (HRT) most of these women develop severe symptoms of estrogen (E) deficiency and are at increased risk for osteoporosis, cardiovascular disease, cognitive decline, dementia, and the associated increases in morbidity and mortality. In cases in which a hysterectomy has been performed at the time of bilateral oophorectomy transdermal or transvaginal E2 replacement therapy without cyclic progestin replacement is the optimum hormonal management for these women...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27783170/assessment-of-ataxia-phenotype-in-a-new-mouse-model-of-galactose-1-phosphate-uridylyltransferase-galt-deficiency
#13
Wyman Chen, Rose Caston, Bijina Balakrishnan, Anwer Siddiqi, Kamalpreet Parmar, Manshu Tang, Merry Feng, Kent Lai
Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed reduced fertility and growth restriction. These phenotypes resemble those seen in human patients. In this study, we further assess the fidelity of this new mouse model by examining the animals for the manifestation of a common neurological sequela in human patients: cerebellar ataxia...
October 25, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27775646/associated-clinical-disorders-diagnosed-by-medical-specialists-in-188-fmr1-premutation-carriers-found-in-the-last-25-years-in-the-spanish-basque-country-a-retrospective-study
#14
Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country...
October 21, 2016: Genes
https://www.readbyqxmd.com/read/27754417/molecular-correlates-and-recent-advancements-in-the-diagnosis-and-screening-of-fmr1-related-disorders
#15
Indhu-Shree Rajan-Babu, Samuel S Chong
Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (FMR1) CGG-repeat expansion and methylation analyses. Recent advancements in PCR-based technologies have enabled the characterization of the complete spectrum of CGG-repeat mutation, with or without methylation assessment, and, as a result, have reduced our reliance on the labor- and time-intensive SB, which is the gold standard FXS diagnostic test...
October 14, 2016: Genes
https://www.readbyqxmd.com/read/27731904/chinese-herbal-medicine-for-subfertile-women-with-polycystic-ovarian-syndrome
#16
REVIEW
Kunyan Zhou, Jing Zhang, Liangzhi Xu, Taixiang Wu, Chi Eung Danforn Lim
BACKGROUND: Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinology abnormalities, and affects 5% to 10% of women of reproductive age. Western medicines, such as oral contraceptives, insulin sensitizers and laparoscopic ovarian drilling (LOD), have been used to treat PCOS. Recently, many studies have been published that consider Chinese herbal medicine (CHM) as an alternative treatment for women with PCOS. OBJECTIVES: To assess the efficacy and safety of CHM for subfertile women with PCOS...
October 12, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27702318/in-vitro-activation-a-dip-into-the-primordial-follicle-pool
#17
Ophelia Yin, Kamaria Cayton, James H Segars
CONTEXT: A current limitation of assisted reproduction is the number of available female gametes. This Commentary discusses in vitro activation (IVA), a technique that activates dormant ovarian follicles so that these follicles can become mature oocytes for fertilization. There is considerable evidence that mechanical signaling plays an important role in oocyte maturation and survival; manipulation of the mechanical environment is a key component of the IVA process. IVA acts on existing follicles and does not promote neo-oogenesis, which likely contributes little to the primordial follicle pool in the adult...
October 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27695106/fmrp-associates-with-cytoplasmic-granules-at-the-onset-of-meiosis-in-the-human-oocyte
#18
Roseanne Rosario, Panagiotis Filis, Victoria Tessyman, Hazel Kinnell, Andrew J Childs, Nicola K Gray, Richard A Anderson
Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women. Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by inheritance of the FMR1 premutation allele and approximately 20% of women with the premutation allele develop ovarian dysfunction and premature ovarian insufficiency. However, the underlying disease mechanism remains obscure, and a potential role of FMRP in human ovarian development has not been explored...
2016: PloS One
https://www.readbyqxmd.com/read/27690531/premature-ovarian-insufficiency-new-perspectives-on-genetic-cause-and-phenotypic-spectrum
#19
Elena J Tucker, Sonia R Grover, Anne Bachelot, Philippe Touraine, Andrew H Sinclair
Premature Ovarian Insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40, and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to 1 in 100 females, including 1 in 1000 before the age of 30. Substantial evidence suggests a genetic basis to POI, however, the majority of cases remain unexplained indicating there are likely genes associated with this condition yet to be discovered. This review discusses the current knowledge of the genetic basis of POI...
October 3, 2016: Endocrine Reviews
https://www.readbyqxmd.com/read/27642674/tbp2-gene-may-not-be-associated-with-primary-ovarian-insufficiency
#20
C Wang, J Cao, Y Xing, D Pu, J Liu, J Wu
OBJECTIVE: It has previously been reported that TATA-binding protein 2 (TBP2) knockout female mice are sterile. Our objective was to assess the association between the TBP2 gene and primary ovarian insufficiency (POI) in a Chinese population. METHODS: A cohort of 60 POI patients matched with 60 fertile controls was recruited by Nanjing Medical University. There were no interventions. The complete TBP2 exon regions were analyzed by direct sequencing in all POI patients and controls...
September 17, 2016: Climacteric: the Journal of the International Menopause Society
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