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https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#1
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28093720/septum-resection-for-women-of-reproductive-age-with-a-septate-uterus
#2
REVIEW
Judith Fw Rikken, Claudia R Kowalik, Mark H Emanuel, Ben Willem J Mol, Fulco Van der Veen, Madelon van Wely, Mariëtte Goddijn
BACKGROUND: Women with a septate uterus are at increased risk for subfertility, recurrent miscarriage, and preterm birth. Restoration of the anatomy of the uterus by hysteroscopic septum resection is an established intervention. This treatment has been assessed mainly in retrospective cohort studies, which suggested a positive effect on pregnancy outcomes. The major flaw in these studies is the before/after design, which will always favour the tested intervention. OBJECTIVES: To determine whether hysteroscopic septum resection in women of reproductive age with a septate uterus improves live birth rates and to assess the safety of this procedure...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28086915/comparative-study-in-infertile-couples-with-and-without-chlamydia-trachomatis-genital-infection
#3
Yuanchang Zhu, Biao Yin, Tonghua Wu, Lijun Ye, Chunmei Chen, Yong Zeng, Yaou Zhang
BACKGROUND: Chlamydia, caused by the bacterium Chlamydia trachomatis(C. trachomatis), is the most common sexually transmitted disease. The incidence is not clear due to the asymptomatic nature of early stage of infections. The incidence of Chlamydia has not been fully investigated in the Chinese Han population. Since chronic infection with can C. trachomatis can lead to infertility in males and females, it is important to determine the impact of infection on clinical outcomes. The aim of this study is to explore the epidemiology of C...
January 13, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28069178/outcomes-of-anastrozole-in-oligozoospermic-hypoandrogenic-subfertile-men
#4
Ohad Shoshany, Nikita Abhyankar, Naem Mufarreh, Garvey Daniel, Craig Niederberger
OBJECTIVE: To determine whether the change in sperm parameters in subfertile hypoandrogenic men treated with anastrozole is correlated to the magnitude of increase in testosterone (T) to estrogen ratio in men responding to treatment. DESIGN: Retrospective study. SETTING: Male fertility clinic. PATIENT(S): The study group consisted of 86 subfertile hypoandrogenic men with low T/estradiol (E2) ratio (n = 78) or a prior aversive reaction to clomiphene citrate (n = 8)...
January 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28057876/academic-performance-in-adolescents-born-after-art-a-nationwide-registry-based-cohort-study
#5
A L Spangmose, S S Malchau, L Schmidt, D Vassard, S Rasmussen, A Loft, J Forman, A Pinborg
STUDY QUESTION: Is academic performance in adolescents aged 15-16 years and conceived after ART, measured as test scores in ninth grade, comparable to that for spontaneously conceived (SC) adolescents? SUMMARY ANSWER: ART singletons had a significantly lower mean test score in the adjusted analysis when compared with SC singletons, yet the differences were small and probably not of clinical relevance. WHAT IS KNOWN ALREADY: Previous studies have shown similar intelligence quotient (IQ) levels in ART and SC children, but only a few have been on adolescents...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28046063/three-dimensional-high-frequency-ultrasonography-for-early-detection-and-characterization-of-embryo-implantation-site-development-in-the-mouse
#6
Mary C Peavey, Corey L Reynolds, Maria M Szwarc, William E Gibbons, Cecilia T Valdes, Francesco J DeMayo, John P Lydon
Ultrasonography is a powerful tool to non-invasively monitor in real time the development of the human fetus in utero. Although genetically engineered mice have served as valuable in vivo models to study both embryo implantation and pregnancy progression, such studies usually require sacrifice of parous mice for subsequent phenotypic analysis. To address this issue, we used three-dimensional (3-D) reconstruction in silico of high-frequency ultrasound (HFUS) imaging data for early detection and characterization of murine embryo implantation sites and their development in utero...
2017: PloS One
https://www.readbyqxmd.com/read/28043348/the-value-of-trans-scrotal-ultrasonography-at-bull-breeding-soundness-evaluation-bbse-the-relationship-between-testicular-parenchymal-pixel-intensity-and-semen-quality
#7
Martin Tomlinson, Amy Jennings, Alastair Macrae, Isabelle Truyers
Bull breeding soundness evaluation (BBSE) is commonly undertaken to identify bulls that are potentially unfit for use as breeding sires. Various studies worldwide have found that approximately 20% of the bulls fail their routine prebreeding BBSE and are therefore considered subfertile. Multiple articles describe the use of testicular ultrasound as a noninvasive aid in the identification of specific testicular and epididymal lesions. Two previous studies have hypothesized a correlation between ultrasonographic testicular parenchymal pixel intensity (PI) and semen quality; however to date, no published studies have specifically examined this link...
February 2017: Theriogenology
https://www.readbyqxmd.com/read/28013002/enhanced-endometriosis-archiving-software-eneas%C3%A2-an-application-for-storing-retrieving-comparing-and-sharing-data-of-patients-affected-by-endometriosis-integrated-in-the-daily-practice
#8
Gabriele Centini, Letizia Zannoni, Lucia Lazzeri, Paolo Buiarelli, Gianluca Limatola, Felice Petraglia, Renato Seracchioli, Errico Zupi
Endometriosis is a chronic benign disease affecting women of fertile age, associated with pelvic pain and subfertility, often impacting negatively on individuals quality of life. Meetings involving five gynaecologists skilled in endometriosis management and two Informatics Technologists Consultants, competent in data managing and web mastering were enlisted to create an Endometriosis Databank named ENhanced Endometriosis Archiving Software (ENEAS). This processing system allows to store, retrieve, compare and correlate all possible data collected in conjunction in different Italian endometriosis centers, with the collective objective of obtaining homogeneous data of a large population sample size...
December 21, 2016: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28008598/endometriosis-an-old-problem-without-a-current-solution
#9
Lone Hummelshoj
The painful symptoms of endometriosis were described as early as 1690 (1), yet more than 300 years later there is still no definitive treatment or prevention for a disease, which affects an estimated 6-10% of reproductive-aged women (2). This equates to 176 million women worldwide (3), whose lives are burdened daily by pain and/or subfertility. This article is protected by copyright. All rights reserved.
December 23, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28005395/conditional-ablation-of-progesterone-receptor-membrane-component-2-causes-female-premature-reproductive-senescence
#10
N C Clark, C A Pru, S P Yee, J P Lydon, J J Peluso, J K Pru
The non-classical progesterone receptors, progesterone receptor membrane component (PGRMC) 1 and PGRMC2 have been implicated in regulating cell survival of endometrial and ovarian cells in vitro and are abundantly expressed in these cell types. The objective of this study was to determine if Pgrmc1 and Pgrmc2 are essential for normal female reproduction. To accomplish this objective, Pgrmc1 and/or Pgrmc2 floxed mice (Pgrmc2(fl/fl) and Pgrmc1/2(fl/fl)) were crossed with Pgr-cre mice which resulted in the conditional ablation of Pgrmc1 and/or Pgrmc2 from female reproductive tissues (i...
December 22, 2016: Endocrinology
https://www.readbyqxmd.com/read/28004769/single-cell-analysis-of-differences-in-transcriptomic-profiles-of-oocytes-and-cumulus-cells-at-gv-mi-mii-stages-from-pcos-patients
#11
Qiwei Liu, Yumei Li, Yun Feng, Chaojie Liu, Jieliang Ma, Yifei Li, Huifen Xiang, Yazhong Ji, Yunxia Cao, Xiaowen Tong, Zhigang Xue
Polycystic ovary syndrome (PCOS) is a common frequent endocrine disorder among women of reproductive age. Although assisted reproductive techniques (ARTs) are used to address subfertility in PCOS women, their effectiveness is not clear. Our aim was to compare transcriptomic profiles of oocytes and cumulus cells (CCs) between women with and without PCOS, and assess the effectiveness of ARTs in treating PCOS patients. We collected oocytes and CCs from 16 patients with and without PCOS patients to categorize them into 6 groups according to oocyte nuclear maturation...
December 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28003300/protocol-for-developing-disseminating-and-implementing-a-core-outcome-set-for-endometriosis
#12
Martin Hirsch, James M N Duffy, Claire Barker, Lone Hummelshoj, Neil P Johnson, Ben Mol, Khalid S Khan, Cindy Farquhar
INTRODUCTION: Endometriosis is a common gynaecological disease characterised by pain and subfertility. Randomised controlled trials evaluating treatments for endometriosis have reported many different outcomes and outcome measures. This variation restricts effective data synthesis limiting the usefulness of research to inform clinical practice. To address these methodological concerns, we aim to develop, disseminate and implement a core outcome set for endometriosis engaging with key stakeholders, including healthcare professionals, researchers and women with endometriosis...
December 21, 2016: BMJ Open
https://www.readbyqxmd.com/read/27999705/urethral-leiomyoma-a-rare-clinical-entity
#13
Ng Beng Kwang, Aruku Naidu, Azyani Yahaya, Lim Pei Shan
Extrauterine leiomyomas are encountered occasionally, which can pose a diagnostic dilemma and challenge to the gynaecologist. We report a rare case of urethral leiomyoma. A 31-year-old woman with history of primary subfertility presented with mass at her urethral meatus and lower urinary tract symptoms. She underwent examination under anaesthesia and excision of the urethral mass. Histopathological examination confirmed leiomyoma. Diagnosis and management of this common growth situated at a rare location were reviewed and discussed...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27995520/effect-of-medications-for-gastric-acid-related-symptoms-on-total-motile-sperm-count-and-concentration-a-case-control-study-in-men-of-subfertile-couples-from-the-netherlands
#14
Nicole A Huijgen, Hedwig J Goijen, John M Twigt, Annemarie G M G J Mulders, Jan Lindemans, Gert R Dohle, Joop S E Laven, Régine P M Steegers-Theunissen
INTRODUCTION: Gastric acid-related symptoms are highly prevalent in the general population (21-40%), and more than 11% of individuals use medication for the treatment of these symptoms. The uptake of micronutrients is dependent on the gastrointestinal potential of hydrogen (pH). OBJECTIVE: We hypothesized that medication affecting gastrointestinal pH reduces the availability of B vitamins, thereby deranging one-carbon metabolism and detrimentally affecting spermatogenesis...
December 19, 2016: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/27994055/smad3-regulates-follicle-stimulating-hormone-synthesis-by-pituitary-gonadotrope-cells-in-vivo
#15
Yining Li, Gauthier Schang, Ulrich Boehm, Chu-Xia Deng, Jonathan Graff, Daniel J Bernard
Pituitary follicle-stimulating hormone (FSH) is an essential regulator of fertility in females and of quantitatively normal spermatogenesis in males. Pituitary-derived activins are thought to act as major stimulators of FSH synthesis by gonadotrope cells. In vitro, activins signal via SMAD3, SMAD4, and forkhead box L2 (FOXL2) to regulate transcription of the FSHβ subunit gene (Fshb). Consistent with this model, gonadotrope-specific Smad4 or Foxl2 knockout mice have greatly reduced FSH and are subfertile. SMAD3's role in vivo is unresolved; however, residual FSH production in Smad4 conditional knockout mice may derive from partial compensation by SMAD3 and its ability to bind DNA in the absence of SMAD4...
December 19, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27994040/association-between-adherence-to-the-mediterranean-diet-and-semen-quality-parameters-in-male-partners-of-couples-attempting-fertility
#16
Dimitrios Karayiannis, Meropi D Kontogianni, Christina Mendorou, Lygeri Douka, Minas Mastrominas, Nikos Yiannakouris
STUDY QUESTION: Is adherence to the Mediterranean diet (MedDiet) associated with better semen quality in men of subfertile couples attempting fertility? SUMMARY ANSWER: Greater adherence to the MedDiet, as assessed through the validated Mediterranean diet score (MedDietScore), was significantly associated with higher sperm concentration, total sperm count and sperm motility. WHAT IS KNOWN ALREADY: A-posteriori dietary pattern approaches have revealed that dietary patterns characterized by high intakes of fruits, vegetables, whole grains, fish and low intake of meat are associated with better semen quality...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27993999/natural-conception-repeated-predictions-over-time
#17
R van Eekelen, I Scholten, R I Tjon-Kon-Fat, J W van der Steeg, P Steures, P Hompes, M van Wely, F van der Veen, B W Mol, M J Eijkemans, E R Te Velde, N van Geloven
STUDY QUESTION: How can we predict chances of natural conception at various time points in couples diagnosed with unexplained subfertility? SUMMARY ANSWER: We developed a dynamic prediction model that can make repeated predictions over time for couples with unexplained subfertility that underwent a fertility workup at a fertility clinic. WHAT IS KNOWN ALREADY: The most frequently used prediction model for natural conception (the 'Hunault model') estimates the probability of natural conception only once per couple, that is, after completion of the fertility workup...
December 18, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27988256/oocyte-competence-in-women-with-polycystic-ovary-syndrome
#18
REVIEW
Stefano Palomba, Jessica Daolio, Giovanni Battista La Sala
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age and affects fertility and pregnancy in cases of oligoanovulation. Ovulation induction is often used to treat anovulatory patients with PCOS, but many of these women fail to conceive and resort to assisted reproductive technologies. Alterations in oocyte competence (OC) are considered potential causative factors for subfertility in women with PCOS. In this review we present and critically assess all recent clinical and experimental data regarding OC in women with PCOS...
December 14, 2016: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/27987404/diagnostic-accuracy-of-cancer-antigen-125-ca125-for-endometriosis-in-symptomatic-women-a-multi-center-study
#19
Martin Hirsch, James M N Duffy, Christine S Deguara, Colin J Davis, Khalid S Khan
STUDY OBJECTIVE: To assess the diagnostic accuracy of serum Cancer Antigen 125 (CA 125)≥30units/milliliter (u/ml) for diagnosing endometriosis in symptomatic women. STUDY DESIGN: Prospective observational cohort study including patients with symptoms of pelvic pain or subfertility undergoing elective diagnostic laparoscopy at two tertiary referral hospitals. We excluded patients suspected to have other gynecological pathology. We evaluated the accuracy of serum CA 125 (index test) with histologically confirmed endometriosis (reference standard)...
December 5, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27984130/dual-effect-of-insulin-resistance-and-cadmium-on-human-granulosa-cells-in-vitro-study
#20
Muskaan Belani, Preeti Shah, Manish Banker, Sarita Gupta
Combined exposure of cadmium (Cd) and insulin resistance (IR) might be responsible for subfertility. In the present study, we investigated the effects of Cd in vitro in IR human granulosa cells. Isolated human granulosa cells from control and polycystic ovary syndrome (PCOS) follicular fluid samples were confirmed for IR by decrease in protein expression of insulin receptor-β. Control and IR human granulosa cells were then incubated with or without 32μM Cd. The combined effect of IR with 32μM Cd in granulosa cells demonstrated significant decrease in expression of StAR, CYP11A1, CYP19A1, 17β-HSD, 3β-HSD, FSH-R and LH-R...
October 28, 2016: Toxicology and Applied Pharmacology
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