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Recurrent pregnancy loss

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https://www.readbyqxmd.com/read/29440706/a-homozygous-nop14-variant-is-likely-to-cause-recurrent-pregnancy-loss
#1
Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, Noriko Miyake
Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40-60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families...
February 13, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29435277/methylenetetrahydrofolate-reductase-gene-c677t-and-a1298c-polymorphisms-and-susceptibility-to-recurrent-pregnancy-loss
#2
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29433402/the-effect-of-low-dose-ovarian-stimulation-with-hmg-plus-progesterone-on-pregnancy-outcome-in-women-with-history-of-recurrent-pregnancy-loss-and-secondary-infertility-a-retrospective-cohort-study
#3
Maria Elisabetta Coccia, Francesca Rizzello, Mauro Cozzolino, Valentina Turillazzi, Tommaso Capezzuoli
We assessed the outcome of pregnancy in women with a history of recurrent pregnancy loss (RPL) following treatment with low-dose human menopausal gonadotropin (HMG)+progesterone or progesterone alone. This single-center retrospective cohort study included data from women diagnosed with RPL and treated between February 2005 and December 2012 with one cycle of HMG + progesterone or progesterone alone. Primary endpoint was the rate of ongoing pregnancies and losses by treatment, age (<38 vs. ≥38 years) and in the subgroup with unexplained RPL...
February 12, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29428282/the-status-of-genetic-screening-in-recurrent-pregnancy-loss
#4
REVIEW
Daniel Kaser
Recurrent pregnancy loss is often idiopathic, but numerical and structural chromosomal abnormalities constitute an important cause. Numerical chromosomal abnormalities in the conceptus are primarily due to meiotic nondisjunction; the rate and complexity of embryonic aneuploidy are driven by female age. Structural chromosomal abnormalities (balanced translocations or inversions) can lead to unbalanced gametes depending on specific recombination and segregation patterns during meiosis. The attendant reproductive risk depends on the type of rearrangement and its parental origin...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29397244/cataract-in-a-patient-with-47-xyy-sex-chromosome-aneuploidy
#5
A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González
CASE REPORT: The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. DISCUSSION: Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual...
January 31, 2018: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29392437/independent-association-between-uterine-malformations-and-cervical-insufficiency-a-retrospective-population-based-cohort-study
#6
Salvatore Andrea Mastrolia, Yael Baumfeld, Reli Hershkovitz, David Yohay, Giuseppe Trojano, Adi Y Weintraub
OBJECTIVE: The purpose of our study was to explore maternal and fetal outcomes in the second and third trimester in women with uterine malformations. STUDY DESIGN: This was a retrospective population-based cohort study including women with a diagnosis of uterine malformation arised from workup for infertility or recurrent pregnancy loss, was accidental during pregnancy, or was noticed at the time of cesarean delivery. RESULTS: A total of 280,721 pregnancies met the inclusion criteria and were divided into two study groups: (1) pregnancies in women with uterine malformations (n = 1099); and (2) controls (n = 279,662)...
February 1, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29371825/retrospective-cohort-study-of-the-risk-factors-for-secondary-infertility-following-hysteroscopic-metroplasty-of-the-uterine-septum-in-women-with-recurrent-pregnancy-loss
#7
Shuichi Ono, Mirei Yonezawa, Kenichiro Watanabe, Takashi Abe, Katsuya Mine, Yoshimitsu Kuwabara, Shigeo Akira, Toshiyuki Takeshita
Purpose: A hysteroscopic metroplasty was performed for women with recurrent pregnancy loss owing to a uterine septum, following which some women became infertile. The aim of this study was to elucidate the risk factors of secondary infertility 1 year after hysteroscopic metroplasty for a uterine septum. Methods: A retrospective, single-center, cohort study included women with a history of at least two miscarriages that had been attributed to a uterine septum who underwent a hysteroscopic metroplasty...
January 2018: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29342292/clinical-utility-of-the-global-anti-phospholipid-syndrome-score-for-risk-stratification-a-pooled-analysis
#8
Savino Sciascia, Massimo Radin, Giovanni Sanna, Irene Cecchi, Dario Roccatello, Maria Laura Bertolaccini
Objective: Recently, our group conceived a risk score for clinical manifestations of APS (the global APS score, or GAPSS) that takes into account the combination of independent cardiovascular risk factors and the aPL positivity profile. These include hyperlipidaemia, arterial hypertension, aCL, anti-β2 glycoprotein-I, aPS-PT and the LA. A complementary version, the adjusted GAPSS (aGAPSS), which excludes aPS-PT, was also designed. The aim of our study was to systematically review the literature to assess the clinical utility of the GAPSS and aGAPSS for risk stratification of any APS clinical manifestation...
January 12, 2018: Rheumatology
https://www.readbyqxmd.com/read/29339132/exogenous-progesterone-hypersensitivity-associated-with-recurrent-pregnancy-loss
#9
Merin Kuruvilla, Kristine Vanijcharoenkarn, Justin Wan, Nigel Pereira, Pak Chung
No abstract text is available yet for this article.
January 12, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#10
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29313278/genetic-and-epigenetic-variations-associated-with-idiopathic-recurrent-pregnancy-loss
#11
REVIEW
Luis Alejandro Arias-Sosa, Iván Darío Acosta, Elkin Lucena-Quevedo, Harold Moreno-Ortiz, Clara Esteban-Pérez, Maribel Forero-Castro
Recurrent pregnancy loss (RPL) is a reproductive disorder defined as two or more successive and spontaneous pregnancy losses (before 20 weeks of gestation), which affects approximately 1-2% of couples. At present, the causes of RPL remain unknown in a considerable number of cases, leading to complications in treatment and high levels of stress in couples. Idiopathic recurrent pregnancy loss (iRPL) has become one of the more complicated reproductive problems worldwide due to the lack of information about its etiology, which limits the counseling and treatment of patients...
January 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29305234/reproductive-outcomes-after-fertility-sparing-surgery-for-focal-and-diffuse-adenomyosis-a-systematic-review
#12
REVIEW
Justin Tan, Sophie Moriarty, Omur Taskin, Catherine Allaire, Christina Williams, Paul Yong, Mohamed A Bedaiwy
Among the variety of treatment options to improve reproductive outcomes for infertile women with adenomyosis (AD), uterine conserving surgery has demonstrated varying success. Hence, we conducted a systematic review around the topic of fertility-sparing surgery across 18 studies and 1396 infertile women with focal and diffuse AD. Patients with focal AD demonstrated mean pregnancy and miscarriage rates of 52.7% (range:14.3-77.5%) and 21.1% (range:0-44.4%), respectively, while patients with diffuse AD had a mean pregnancy and miscarriage rate of 34...
January 2, 2018: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#13
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29281611/association-of-of-il-1-receptor-antagonist-il-1rn-and-interleukin-1%C3%AE-genes-il-1%C3%AE-polymorphisms-with-recurrent-pregnancy-loss-in-iranian-azeri-women
#14
Seyyed Ali Rahmani, Zeynab Paknejad, Masoumeh Mohammadkhanlou, Marina Daneshparvar
Objective One of the most important problems in human reproduction is recurrent pregnancy loss (RPL). RPL is defined as three or more consecutive abortions in the first trimester of pregnancy. The association between the polymorphisms in the immunological factors and RPL was investigated. The aim of our study was to determine the association of interleukin receptor antagonist (IL-IRN) and interleukin-1β (IL-1β) polymorphisms with RPL in Iranian Azeri women. Materials and methods The study participants consisted of 100 women with RPL of Iranian Azeri origin...
December 27, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/29276169/prevalence-and-treatment-choices-for-couples-with-recurrent-pregnancy-loss-due-to-structural-chromosomal-anomalies
#15
Savanie Maithripala, Ursula Durland, Jon Havelock, Sonya Kashyap, Jason Hitkari, Justin Tan, Mahmoud Iews, Sarka Lisonkova, Mohamed A Bedaiwy
OBJECTIVE: Parental carriers of balanced structural chromosomal rearrangements such as reciprocal or Robertsonian translocations are at increased risk of recurrent pregnancy loss (RPL) due to the production of gametes with unbalanced non-viable chromosome variants. As a purported means of improving reproductive outcomes in this population, IVF and preimplantation genetic diagnosis (PGD) have been introduced as an alternative to natural conception and prenatal diagnosis. In this study, we evaluate the prevalence and treatment choices of couples with structural chromosomal rearrangement referred to a tertiary care RPL clinic...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29243350/maternal-history-of-recurrent-pregnancy-loss-is-associated-with-increased-risk-for-long-term-pediatric-gastrointestinal-morbidity-in-the-offspring
#16
Yael Lichtman, Eyal Sheiner, Tamar Wainstock, Idit Segal, Daniella Landau, Asnat Walfisch
PROBLEM: Recurrent pregnancy loss (RPL) potentially involves an abnormal maternal inflammatory response. We investigated whether children of mothers with a history of RPL are at an increased risk for childhood gastrointestinal (GI) morbidity, with a specific focus on inflammatory bowel diseases (IBD). METHOD OF STUDY: A population-based cohort analysis comparing the risk for long-term GI morbidity in children born to mothers with and without a history of RPL. Gastrointestinal (GI) morbidity included hospitalizations involving a pre-defined set of ICD-9 codes...
December 15, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29242273/rbpj-mediates-uterine-repair-in-the-mouse-and-is-reduced-in-women-with-recurrent-pregnancy-loss
#17
Michael R Strug, Ren-Wei Su, Tae Hoon Kim, Alessandro Mauriello, Carlo Ticconi, Bruce A Lessey, Steven L Young, Jeong Mook Lim, Jae-Wook Jeong, Asgerally T Fazleabas
Unexplained recurrent pregnancy loss (uRPL) is associated with repeated embryo loss and endometrial repair with elevated endometrial expression of inflammatory cytokines, including IFN-γ. Notch signaling through its transcription factor recombination signal binding protein Jκ (RBPJ) regulates mechanisms including the immune response and repair after tissue injury. Initially, null mutation of RBPJ in the mouse uterus (Pgrcre/+Rbpjf/f ; Rbpj c-KO) results in subfertility, but we have found that these mice become infertile after pregnancy as a result of dysfunctional postpartum uterine repair, including delayed endometrial epithelial and myometrial regeneration...
December 14, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29221937/recurrent-miscarriage-is-associated-with-increased-ghrelin-mrna-expression-in-the-endometrium-a-case-control-study
#18
Aneta Zwierzchowska, Anna Iwan, Anna Hyc, Barbara Suchońska, Jacek Malejczyk, Ewa Barcz
Ghrelin has been found to be expressed in the human endometrium. Emerging evidence links ghrelin and its receptor with the reproductive system. Certain associations between ghrelin and angiogenesis have also been established. The aim of this small case-control study was to quantify and compare the expression of mRNA encoding ghrelin, ghrelin receptor (GHS-R), vascular endothelial growth factor A (VEGF A) and its receptors (VEGFR1-3) in the endometrium of women with recurrent miscarriage compared to parous controls...
December 5, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/29219278/clinical-features-of-carriers-of-reciprocal-chromosomal-translocations-involving-chromosome-2-report-of-nine-cases-and-review-of-the-literature
#19
Xinyue Zhang, Hongguo Zhang, Cong Hu, Ruixue Wang, Qi Xi, Ruizhi Liu
OBJECTIVE: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility...
December 11, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29208248/kidney-diseases-associated-with-alternative-complement-pathway-dysregulation-and-potential-treatment-options
#20
REVIEW
Prateek Sanghera, Mythili Ghanta, Fatih Ozay, Venkatesh K Ariyamuthu, Bekir Tanriover
Atypical hemolytic uremic syndrome and C3 glomerulopathy (dense deposit disease and C3 glomerulonephritis) are characterized as inappropriate activation of the alternative complement pathway. Genetic mutations affecting the alternative complement pathway regulating proteins (complement factor H, I, membrane cofactor protein and complement factor H-related proteins) and triggers (such as infection, surgery, pregnancy and autoimmune disease flares) result in the clinical manifestation of these diseases. A decade ago, prognosis of these disease states was quite poor, with most patients developing end-stage renal disease...
December 2017: American Journal of the Medical Sciences
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