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https://www.readbyqxmd.com/read/28717861/patient-perspectives-on-gene-transfer-therapy-for-sickle-cell-disease
#1
Heather Strong, Monica J Mitchell, Alana Goldstein-Leever, Lisa Shook, Punam Malik, Lori E Crosby
INTRODUCTION: Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; it affects nearly 100,000 individuals in the USA. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients because of a number of access barriers. Gene transfer therapy (GTT) has been shown to be curative in animal models and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients...
July 17, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#2
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28705149/f-treegc-a-questionnaire-based-family-tree-creation-software-for-genetic-counseling-and-genome-cohort-studies
#3
Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya, Atsushi Shimizu
BACKGROUND: The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named "f-treeGC," which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts...
July 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28702979/use-of-platelet-rich-plasma-in-human-infertility
#4
G V L Colombo, V Fanton, D Sosa, E Criado Scholz, J Lotti, S E Aragona, T Lotti
Successful embryo implantation requires good quality embryo but also needs a receptive endometrium site. In our clinical practice, we daily verify that an adequate endometrial growth is reached for successful implantation. To understand whether platelet rich plasma (PRP) can improve endometrium thickness and performance, PRP treatment was carried out after at least three of the classic medical protocols currently in use had been unsuccessfully adopted. Eight patients with more than 3 cryo-transfers cancelled because of failure of endometrial growth, defined as endometrium less than 6 mm, with negative hysteroscopic screening for endometrial pathology, and with negative bacteriologic screening, before present and all previous treatment, were selected to undergo PRP treatment...
July 13, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28697910/duphaston-and-human-menopausal-gonadotropin-protocol-in-normally-ovulatory-women-undergoing-controlled-ovarian-hyperstimulation-during-in%C3%A2-vitro-fertilization-intracytoplasmic-sperm-injection-treatments-in-combination-with-embryo-cryopreservation
#5
Xiuxian Zhu, Hongjuan Ye, Yonglun Fu
OBJECTIVE: To evaluate endocrine characteristics and clinical outcomes in normal ovulatory patients undergoing controlled ovarian hyperstimulation (COH) with the use of a Duphaston and hMG protocol during in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) treatments in combination with frozen-thawed embryo transfer (FET) compared with the characteristics and outcomes of patients undergoing an Utrogestan and hMG protocol. DESIGN: Prospective controlled study...
July 8, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28694258/plc%C3%AE-is-the-physiological-trigger-of-the-ca-2-oscillations-that-induce-embryogenesis-in-mammals-but-offspring-can-be-conceived-in-its-absence
#6
Alaa Hachem, Jonathan Godwin, Margarida Ruas, Hoi Chang Lee, Minerva Ferrer Buitrago, Goli Ardestani, Andrew Bassett, Sebastian Fox, Felipe Navarrete, Petra de Sutter, Björn Heindryckx, Rafael Fissore, John Parrington
Activation of the egg by the sperm is the first, vital stage of embryogenesis. The sperm protein PLCζ has been proposed as the physiological agent that triggers the Ca(2+) oscillations that normally initiate embryogenesis. Consistent with this, recombinant PLCζ induces Ca(2+) oscillations in eggs and debilitating mutations in the PLCZ1 gene are associated with infertility in men. However, there has been no evidence that gene knockout of PLCζ abolishes the ability of sperm to induce Ca(2+) oscillations in eggs...
July 10, 2017: Development
https://www.readbyqxmd.com/read/28692609/human-semen-quality-sperm-dna-damage-and-the-level-of-reproductive-hormones-in-relation-to-urinary-concentrations-of-parabens
#7
Joanna Jurewicz, Michał Radwan, Bartosz Wielgomas, Emila Dziewirska, Anetta Karwacka, Anna Klimowska, Paweł Kałużny, Paweł Radwan, Michał Bochenek, Wojciech Hanke
OBJECTIVE: The aim of this study was to evaluate the association between environmental exposure to parabens and semen quality parameters [main semen parameters, computer-aided semen analysis (CASA parameters], sperm chromatin structure, and the level of reproductive hormones in men [follicle-stimulating hormone (FSH), testosterone, estradiol]. METHODS: Urine samples collected from 315 men who attended the infertility clinic for diagnostic purposes with normal semen concentration of 15 to 300 mln/mL were analyzed for five parabens concentrations using a validated gas chromatography ion-tap mass spectrometry method...
July 7, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28687207/high-risk-of-preterm-birth-and-low-birth-weight-after-oocyte-donation-ivf-analysis-of-133-785-live-births
#8
Mohan Shashikant Kamath, Belavendra Antonisamy, Mariano Mascarenhas, Sesh Kamal Sunkara
A higher risk of pregnancy complications occurs after assisted reproductive techniques compared with spontaneously conceived pregnancies. This is attributed to the underlying infertility and assisted reproduction technique procedures involved during treatment. It is a matter of interest whether use of donor oocytes affects perinatal outcomes compared with pregnancies after autologous IVF. Anonymized data were obtained from the Human Fertilization and Embryology Authority. The analysis included 5929 oocyte donation and 127,856 autologous IVF live births...
June 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28683576/womb-transplants-with-live-births-an-update-and-the-future
#9
Mats Brännström
Absolute uterine factor infertility, with a uterine absence or presence of a nonfunctional uterus, has during the last decades been the only remaining, major group of female infertility. Uterus transplantation (UTx) has now emerged as the first therapy for these women that have traditionally been regarded as unconditionally infertile. Areas covered: This review summarizes the research preparations in several experimental animal species that paved the way for the clinical introduction of UTx. The article also describes the human UTx attempts that have been reported up until today and the several live births that have occurred after the initial UTx baby was born in 2014...
July 6, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28683014/the-everything-about-the-existence-experiences-of-turkish-women-with-infertility-solicited-diaries-in-qualitative-research
#10
İlkay Boz, Hülya Okumuş
BACKGROUND: Infertility as a gynecological illness causes many psychological problems. In Turkey, only a limited number of studies have used qualitative methods to explore the experiences of infertile women. PURPOSE: The aims of this study are to investigate the infertility experiences of women using Watson's Theory of Human Caring as a guide and to sensitize healthcare professionals to the importance of the personal stories of these women. METHODS: A phenomenological approach was used to guide our exploration of the stories of infertile women during their treatment for infertility...
August 2017: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/28680864/effects-of-nursing-care-based-on-watson-s-theory-of-human-caring-on-anxiety-distress-and-coping-when-infertility-treatment-fails-a-randomized-controlled-trial
#11
Yeter Durgun Ozan, Hülya Okumuş
Introduction: The failure of infertility treatment leads to individual, familial, and social problems. The objective of this study was to evaluate the effectiveness of the nursing care program based on Watson's "Theory of Human Caring" on anxiety and distress caused by coping when the treatment fails. Methods: This study randomized controlled trial study was conducted from April to November 2012, with 86 Turkish women with infertility (intervention group: 45, control group: 41). Follow-up of 32 infertile women, who failed infertility treatment from intervention group, and 35 infertile women, who failed infertility treatment from control group, continued for another four weeks...
June 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28678425/semi-automated-scoring-of-triple-probe-fish-in-human-sperm-using-confocal-microscopy
#12
Francesca Branch, GiaLinh Nguyen, Nicholas Porter, Heather A Young, Sheena E Martenies, Nathan McCray, Glen Deloid, Anastas Popratiloff, Melissa J Perry
Structural and numerical sperm chromosomal aberrations result from abnormal meiosis and are directly linked to infertility. Any live births that arise from aneuploid conceptuses can result in syndromes such as Kleinfelter, Turners, XYY and Edwards. Multi-probe fluorescence in situ hybridization (FISH) is commonly used to study sperm aneuploidy, however manual FISH scoring in sperm samples is labor-intensive and introduces errors. Automated scoring methods are continuously evolving. One challenging aspect for optimizing automated sperm FISH scoring has been the overlap in excitation and emission of the fluorescent probes used to enumerate the chromosomes of interest...
July 5, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28676534/expression-patterns-of-henmt1-and-piwil1-in-human-testis-implications-for-transposon-expression
#13
Anna-Lena Hempfling, Shu Ly Lim, David Adelson, Jemma Evans, Anne E O'Connor, Zhipeng Qu, Sabine Kliesch, Wolfgang Weidner, M K O'Bryan, Martin Bergmann
This study aimed to define the expression patterns of HENMT1 and PIWI proteins in human testis and investigate their association with transposon expression, infertility sub-type or development of testicular germ cell tumours (TGCT). Testis biopsies showing normal spermatogenesis were used to identify normal localization patterns of HENMT1 and PIWIL1 by immunolocalisation and RT-PCR after laser microdissection. 222 testis biopsies representing normal spermatogenesis, hypospermatogenesis, spermatogenic arrests, Sertoli cell-only (SCO) and testicular germ cell tumours (TGCT) were analysed by RT-qPCR for expression of HENMT1/PIWIL1/PIWIL2/PIWIL3/PIWIL4 and LINE-1...
July 4, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28675157/cytoplasmic-e2f4-forms-organizing-centres-for-initiation-of-centriole-amplification-during-multiciliogenesis
#14
Munemasa Mori, Renin Hazan, Paul S Danielian, John E Mahoney, Huijun Li, Jining Lu, Emily S Miller, Xueliang Zhu, Jacqueline A Lees, Wellington V Cardoso
Abnormal development of multiciliated cells is a hallmark of a variety of human conditions associated with chronic airway diseases, hydrocephalus and infertility. Multiciliogenesis requires both activation of a specialized transcriptional program and assembly of cytoplasmic structures for large-scale centriole amplification that generates basal bodies. It remains unclear, however, what mechanism initiates formation of these multiprotein complexes in epithelial progenitors. Here we show that this is triggered by nucleocytoplasmic translocation of the transcription factor E2f4...
July 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28674937/scaffold-based-and-scaffold-free-testicular-organoids-from-primary-human-testicular-cells
#15
Yoni Baert, Charlotte Rombaut, Ellen Goossens
Organoid systems take advantage of the self-organizing capabilities of cells to create diverse multi-cellular tissue surrogates that constitute a powerful novel class of biological models. Clearly, the formation of a testicular organoid (TO) in which human spermatogenesis can proceed from a single-cell suspension would exert a tremendous impact on research and development, clinical treatment of infertility, and screening of potential drugs and toxic agents. Recently, we showed that primary adult and pubertal human testicular cells auto-assembled in TOs either with or without the support of a natural testis scaffold...
July 4, 2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28670524/attitudes-of-infertile-couples-fertility-clinic-staff-and-researchers-toward-personhood-of-the-human-embryo-in-iran
#16
Marjaneh Kayssan, Mahrokh Dolatian, Reza Omani Samani, Saman Maroufizadeh
OBJECTIVE: After the introduction of assisted reproductive techniques, human embryos were officially introduced into laboratories and now thousands of them are cryopreserved in such settings. Embryonic stem cells and the future application of such cells in the treatment of disease opened the door to further research on human embryos. These developments raise many ethical issues, some of which have religious aspects. The main question is: what is the embryo? Should we consider it a human being? Thus, the purpose of this study was to investigate attitudes towards the personhood of the embryo...
July 2017: Cell Journal
https://www.readbyqxmd.com/read/28670427/kisspeptin-a-potential-factor-for-unexplained-infertility-and-impaired-embryo-implantation
#17
Aaida Mumtaz, Aqsa Khalid, Zehra Jamil, Syeda Sadia Fatima, Sara Arif, Rehana Rehman
BACKGROUND: Kisspeptin (KP) is a neuropeptide that causes the release of the gonadotropin releasing hormone, which controls hypothalamo pituitary ovarian axis and exerts a number of peripheral effects on reproductive organs. The primary objective of this study was to compare baseline KP levels in females with different types of infertility and identify possible correlations with risk of failure to conceive, preclinical abortion and pregnancy after intracytoplasmic sperm injection (ICSI)...
July 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28668160/mr-imaging-of-m%C3%A3-llerian-fusion-anomalies
#18
REVIEW
Jeffrey D Olpin, Aida Moeni, Roderick J Willmore, Marta E Heilbrun
Müllerian duct anomalies, also called congenital uterine anomalies, are developmental structural disorders of the female genital tract. These anomalies are clinically relevant in patients with a history of infertility and pregnancy-related complications. The American Society for Reproductive Medicine classification system is the most well known, although newer systems, such as from the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy, are becoming more widely accepted...
August 2017: Magnetic Resonance Imaging Clinics of North America
https://www.readbyqxmd.com/read/28667125/induction-of-eao-in-mice-responses-to-elevated-circulating-levels-of-the-follistatin
#19
Nour Nicolas, Julie A Muir, Susan Hayward, Justin L Chen, Peter G Stanton, Paul Gregorevic, David M de Kretser, Kate L Loveland, Sudhanshu Bhushan, Andreas Meinhardt, Monika Fijak, Mark P Hedger
Experimental autoimmune orchitis (EAO) is a rodent model of chronic testicular inflammation that mimics the pathology observed in some types of human infertility. In a previous study, testicular expression of the inflammatory/immunoregulatory cytokine, activin A, was elevated in adult mice during the onset of EAO, indicating a potential role in regulation of the disease. Consequently, we examined the development of EAO in mice with elevated levels of follistatin, an endogenous activin antagonist, as a potential therapeutic approach to testicular inflammation...
June 30, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28666494/quadro-cornuate-uterus
#20
Yasmeen Nauman, Samia Husain
Congenital malformations of the female genital tract are a group of miscellaneous deviations from normal anatomy with diverse spectrum. Mullerian anomalies are thought to be present in 0.5% of female population. Three quarter of women remain asymptomatic, the remaining quarter presents with a variety of symptoms including primary amenorrhea, cyclical pain, severe dysmenorrhea, pelvic mass, ectopic pregnancy, infertility and recurrent miscarriages. The American Fertility Society (AFS) classification has been the most widely used classification for categorizing these abnormalities...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
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