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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/28198358/combination-of-aprepitant-azasetron-and-dexamethasone-as-antiemetic-prophylaxis-in-women-with-gynecologic-cancers-receiving-paclitaxel-carboplatin-therapy
#1
Masafumi Koshiyama, Noriomi Matsumura, Saeko Imai, Koji Yamanoi, Kaoru Abiko, Yumiko Yoshioka, Ken Yamaguchi, Junzo Hamanishi, Tsukasa Baba, Ikuo Konishi
BACKGROUND The aim of this study was to evaluate the antiemetic effect of aprepitant and to determine how to provide triple combination therapy (aprepitant/azasetron/dexamethasone) to women receiving paclitaxel/carboplatin moderately emetogenic chemotherapy (MEC). MATERIAL AND METHODS The current study was a prospective study of 163 women with gynecologic cancers. We compared the digestive symptoms scores (nausea, vomiting, appetite loss, and dietary intake) of 37 women with ovarian cancers before and after aprepitant administration...
February 15, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28188718/-hematopoietic-stem-cells-transplant-in-patients-with-common-variable-immunodeficiency-is-a-therapeutic-option
#2
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Patricia López-Pérez, Aurora Chávez-García, Marco Antonio Yamazaki-Nakashimada
BACKGROUND: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. CASE REPORT: Twenty-six-year old woman with no family or hereditary history of primary immune deficiencies or consanguinity, with repeated episodes of otitis, sinusitis, gastroenteritis and bronchitis since childhood...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28175301/mutations-in-msh5-in-primary-ovarian-insufficiency
#3
Ting Guo, Shidou Zhao, Shigang Zhao, Min Chen, Guangyu Li, Xue Jiao, Zhao Wang, Yueran Zhao, Yingying Qin, Fei Gao, Zi-Jiang Chen
No abstract text is available yet for this article.
February 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28137855/amh-mis-as-a-contraceptive-that-protects-the-ovarian-reserve-during-chemotherapy
#4
Motohiro Kano, Amanda E Sosulski, LiHua Zhang, Hatice D Saatcioglu, Dan Wang, Nicholas Nagykery, Mary E Sabatini, Guangping Gao, Patricia K Donahoe, David Pépin
The ovarian reserve represents the stock of quiescent primordial follicles in the ovary which is gradually depleted during a woman's reproductive lifespan, resulting in menopause. Müllerian inhibiting substance (MIS) (or anti-Müllerian hormone/AMH), which is produced by granulosa cells of growing follicles, has been proposed as a negative regulator of primordial follicle activation. Here we show that long-term parenteral administration of superphysiological doses of MIS, using either an adeno-associated virus serotype 9 (AAV9) gene therapy vector or recombinant protein, resulted in a complete arrest of folliculogenesis in mice...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28134961/somatic-dysfunction-in-the-diagnosis-of-uncommon-ectopic-pregnancies-surgical-correlation-and-comparison-with-related-pathologic-findings
#5
Daniel Martingano, Hannah Canepa, Setareh Fararooy, Dmitriy Rybitskiy, Sam Shahem, Francis X Martingano, George Aglialoro
BACKGROUND: Ectopic pregnancies occur when the implantation of a fertilized ovum occurs outside the endometrial cavity. Such pregnancies occur in approximately 1.5% to 2.0% of all pregnancies and cause 6% of maternal deaths. OBJECTIVES: To evaluate osteopathic structural examination (OSE) findings in patients with ectopic pregnancies of uncommon locations and to establish the utility of these findings in the diagnosis of these ectopic pregnancies. METHODS: In this prospective case series, a focused OSE was performed on each patient with an ectopic pregnancy at her initial presentation after the patient history but before other diagnostic or laboratory tests were performed and surgical treatment was initiated...
February 1, 2017: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/28118681/metformin-during-ovulation-induction-with-gonadotrophins-followed-by-timed-intercourse-or-intrauterine-insemination-for-subfertility-associated-with-polycystic-ovary-syndrome
#6
REVIEW
Esmée M Bordewijk, Marleen Nahuis, Michael F Costello, Fulco Van der Veen, Leopoldo O Tso, Ben Willem J Mol, Madelon van Wely
BACKGROUND: Clomiphene citrate (CC) is generally considered first-line treatment in women with anovulation due to polycystic ovary syndrome (PCOS). Ovulation induction with follicle-stimulating hormone (FSH; gonadotrophins) is second-line treatment for women who do not ovulate or conceive while taking CC. Metformin may increase the effectiveness of ovulation induction with gonadotrophins and may promote safety by preventing multiple pregnancy. OBJECTIVES: To determine the effectiveness and safety of metformin co-treatment during ovulation induction with gonadotrophins with respect to rates of live birth and multiple pregnancy in women with PCOS...
January 24, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28111738/interventions-for-the-prevention-of-ohss-in-art-cycles-an-overview-of-cochrane-reviews
#7
REVIEW
Selma Mourad, Julie Brown, Cindy Farquhar
BACKGROUND: Ovarian hyperstimulation syndrome (OHSS) in assisted reproductive technology (ART) cycles is a treatment-induced disease that has an estimated prevalence of 20% to 33% in its mild form and 3% to 8% in its moderate or severe form. These numbers might even be higher for high-risk women such as those with polycystic ovaries or a high oocyte yield from ovum pickup. OBJECTIVES: The objective of this overview is to identify and summarise all evidence from Cochrane systematic reviews on interventions for prevention or treatment of moderate, severe and overall OHSS in couples with subfertility who are undergoing ART cycles...
January 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28094433/bmp15-knockout-like-effect-in-familial-premature-ovarian-insufficiency-with-persistent-ovarian-reserve
#8
Anne Mayer, Baptiste Fouquet, Michel Pugeat, Micheline Misrahi
Premature ovarian insufficiency (POI) affects 1-2% of women under 40 years. BMP15 variants have been described in POI. We studied a family with two sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11.22 yielding a human "knockout-like" effect: a c.151_152delGA deletion yielded a p.Glu51IlefsTer27 mutation transmitted by the hemizygous father and a c.189_198delAGGGCATTCAinsTG deletion/insertion yielded a p.Glu64AlafsTer12 mutation transmitted by the heterozygous mother. Both deletions resulted in frameshifts with premature stop codons at positions 78 and 76 in the proregion, precluding mature BMP15 production...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28089975/in-vitro-fertilization-in-37-women-with-systemic-lupus-erythematosus-or-antiphospholipid-syndrome-a-series-of-97-procedures
#9
Pauline Orquevaux, Agathe Masseau, Véronique Le Guern, Vanessa Gayet, Danièle Vauthier, Gaelle Guettrot-Imbert, Du Le Thi Huong, Bertrand Wechsler, Nathalie Morel, Patrice Cacoub, Jean-Loup Pennaforte, Jean-Charles Piette, Nathalie Costedoat-Chalumeau
OBJECTIVE: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse. METHODS: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. RESULTS: Thirty-seven women with SLE (n = 23, including 8 with antiphospholipid antibodies), SLE with APS (n = 4), or primary APS (n = 10) underwent 97 IVF procedures...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28033660/wide-spectrum-of-nr5a1-related-phenotypes-in-46-xy-and-46-xx-individuals
#10
REVIEW
Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Rafaela Vieira Correa, Luciana Ribeiro Montenegro, Amanda Narciso, Elaine Maria Frade Costa, John C Achermann, Berenice Bilharinho Mendonca
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI)...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/27995424/fragile-x-premutation-in-women-recognizing-the-health-challenges-beyond-primary-ovarian-insufficiency
#11
REVIEW
Luis R Hoyos, Mili Thakur
Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Women with this premutation face many physical and emotional challenges in their life. Approximately 20% of these women will develop fragile X-associated primary ovarian insufficiency (FXPOI). In addition, they suffer from increased rates of menstrual dysfunction, diminished ovarian reserve, reduction in age of menopause, infertility, dizygotic twinning, and risk of having an offspring with a premutation or full mutation...
December 19, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27983607/study-of-the-genetic-etiology-of-primary-ovarian-insufficiency-fmr1-gene
#12
REVIEW
Maitane Barasoain, Gorka Barrenetxea, Iratxe Huerta, Mercedes Télez, Begoña Criado, Isabel Arrieta
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI...
December 13, 2016: Genes
https://www.readbyqxmd.com/read/27976369/clomiphene-and-other-antioestrogens-for-ovulation-induction-in-polycystic-ovarian-syndrome
#13
REVIEW
Julie Brown, Cindy Farquhar
BACKGROUND: Subfertility due to anovulation is a common problem in women. First-line oral treatment is with antioestrogens such as clomiphene citrate, but resistance may be apparent with clomiphene. Alternative and adjunctive treatments have been used including tamoxifen, dexamethasone, and bromocriptine. The effectiveness of these is to be determined. OBJECTIVES: To determine the relative effectiveness of antioestrogen agents including clomiphene alone or in combination with other medical therapies in women with subfertility associated with anovulation, possibly caused by polycystic ovarian syndrome...
15, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27967308/a-biallelic-mutation-in-the-homologous-recombination-repair-gene-spidr-is-associated-with-human-gonadal-dysgenesis
#14
Pola Smirin-Yosef, Nehama Zuckerman-Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck, Irina Lagovsky, Mali Salmon-Divon, Lisa Wiesmüller, Lina Basel-Vanagaite
CONTEXT: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty. OBJECTIVE: To elucidate the cause of ovarian dysfunction in a family with POI. DESIGN: We performed whole exome sequencing in two affected individuals. To evaluate whether DNA double-stranded break (DSB) repair activities are altered in biallelic mutation carriers we applied an EGFP-based assay for the detection of specific DSB repair pathways in blood-derived cells...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
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
#15
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
#16
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...
February 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#17
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
#18
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...
January 2017: Lancet Oncology
https://www.readbyqxmd.com/read/27883256/detecting-agg-interruptions-in-male-and-female-fmr1-premutation-carriers-by-single-molecule-sequencing
#19
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...
March 2017: Human Mutation
https://www.readbyqxmd.com/read/27861765/genetics-of-primary-ovarian-insufficiency
#20
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...
February 2017: Clinical Genetics
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