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https://www.readbyqxmd.com/read/28224271/the-perfect-womb-promoting-equality-of-fetal-opportunity
#1
Evie Kendal
This paper aims to address how artificial gestation might affect equality of opportunity for the unborn and any resultant generation of "ectogenetic" babies. It will first explore the current legal obstacles preventing the development of ectogenesis, before looking at the benefits of allowing this technology to control fetal growth and development. This will open up a discussion of the treatment/enhancement divide regarding the use of reproductive technologies, a topic featured in various bioethical debates on the subject...
February 21, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/28222427/impact-of-fmr1-pre-mutation-status-on-blastocyst-development-in-patients-undergoing-pre-implantation-genetic-diagnosis
#2
Anne P Hutchinson, Nigel Pereira, Debra P Lilienthal, Siobhán Coveney, Jovana P Lekovich, Rony T Elias, Zev Rosenwaks
BACKGROUND/AIMS: The study aimed to investigate the impact of fragile X mental retardation 1 (FMR1) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). METHODS: Case-control study of patients <40 years undergoing PGD at blastocyst stage for FMR1 pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups...
February 22, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28213135/genetic-variants-in-the-peripheral-auditory-system-significantly-affect-adult-cochlear-implant-performance
#3
A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, Viral Tejani, Christina M Sloan-Heggen, Carolyn Brown, Paul Abbas, Camille Dunn, Marlan R Hansen, Bruce J Gantz, Richard J H Smith
BACKGROUND: Cochlear implantation is an effective habilitation modality for adults with significant hearing loss. However, post-implant performance is variable. A portion of this variance in outcome can be attributed to clinical factors. Recent physiological studies suggest that the health of the spiral ganglion also impacts post-operative cochlear implant outcomes. The goal of this study was to determine whether genetic factors affecting spiral ganglion neurons may be associated with cochlear implant performance...
February 14, 2017: Hearing Research
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#4
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati, Orsetta Zuffardi
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recessive mutations in ORC1, ORC4, ORC6, CDT1, CDC6, and CDC45, encoding members of the pre-replication (pre-RC) and pre-initiation (pre-IC) complexes, and heterozygous mutations in GMNN, a regulator of cell-cycle progression and DNA replication, have already been associated with this condition. We performed whole-exome sequencing (WES) in a patient with a clinical diagnosis of MGORS and identified biallelic variants in MCM5...
February 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28191608/experiences-of-pre-implantation-genetic-diagnosis-pgd-in-sweden-a-three-year-follow-up-of-men-and-women
#5
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
Men and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women's psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method...
February 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28181780/diagnosis-treatment-clinical-course-and-prognosis-of-childhood-onset-craniopharyngioma-patients
#6
Hermann L Müller
CONTEXT: For decades gross-total resection was the preferred treatment option in childhood-onset craniopharyngioma, assuming that radical strategies at the time of initial diagnosis and treatment would result in cure. Recent reports on long-term prognosis, novel treatment approaches, and molecular genetics provide new insights into more risk-adapted treatment strategies in order to prevent sequelae such as hypothalamic syndrome. EVIDENCE ACQUISITION: A search for original articles published between 2000 and 2016 was performed in PubMed, Science Citation Index Expanded, EMBASE and Scopus...
February 9, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28157158/epigenetic-alterations-in-parathyroid-cancers
#7
REVIEW
Chiara Verdelli, Sabrina Corbetta
Parathyroid cancers (PCas) are rare malignancies representing approximately 0.005% of all cancers. PCas are a rare cause of primary hyperparathyroidism, which is the third most common endocrine disease, mainly related to parathyroid benign tumors. About 90% of PCas are hormonally active hypersecreting parathormone (PTH); consequently patients present with complications of severe hypercalcemia. Pre-operative diagnosis is often difficult due to clinical features shared with benign parathyroid lesions. Surgery provides the current best chance of cure, though persistent or recurrent disease occurs in about 50% of patients with PCas...
February 1, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28155097/gene-editing-enhancing-and-women-s-role
#8
Frida Simonstein
A recent article on the front page of The Independent (September 18, 2015) reported that the genetic 'manipulation' of IVF embryos is to start in Britain, using a new revolutionary gene-editing technique, called Crispr/Cas9. About three weeks later (Saturday 10, October 2015), on the front page of the same newspaper, it was reported that the National Health Service (NHS) faces a one billion pound deficit only 3 months into the new year. The hidden connection between these reports is that gene editing could be used to solve issues related to health care allocation...
February 2, 2017: Science and Engineering Ethics
https://www.readbyqxmd.com/read/28151979/whole-genome-sequencing-of-an-african-american-family-highlights-toll-like-receptor-6-variants-in-kawasaki-disease-susceptibility
#9
Jihoon Kim, Chisato Shimizu, Stephen F Kingsmore, Narayanan Veeraraghavan, Eric Levy, Andre M Ribeiro Dos Santos, Hai Yang, Jay Flatley, Long Truong Hoang, Martin L Hibberd, Adriana H Tremoulet, Olivier Harismendy, Lucila Ohno-Machado, Jane C Burns
Kawasaki disease (KD) is the most common acquired pediatric heart disease. We analyzed Whole Genome Sequences (WGS) from a 6-member African American family in which KD affected two of four children. We sought rare, potentially causative genotypes by sequentially applying the following WGS filters: sequence quality scores, inheritance model (recessive homozygous and compound heterozygous), predicted deleteriousness, allele frequency, genes in KD-associated pathways or with significant associations in published KD genome-wide association studies (GWAS), and with differential expression in KD blood transcriptomes...
2017: PloS One
https://www.readbyqxmd.com/read/28146134/next-generation-sequencing-in-oncology-genetic-diagnosis-risk-prediction-and-cancer-classification
#10
REVIEW
Rick Kamps, Rita D Brandão, Bianca J van den Bosch, Aimee D C Paulussen, Sofia Xanthoulea, Marinus J Blok, Andrea Romano
Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy...
January 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28129970/counselling-considerations-for-chromosomal-mosaicism-detected-by-preimplantation-genetic-screening
#11
Andria G Besser, Emily L Mounts
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos...
January 16, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28128524/uterine-leiomyosarcoma-a-review-of-recent-advances-in-molecular-biology-clinical-management-and-outcome
#12
REVIEW
Rosa R Cui, Jason D Wright, June Y Hou
Uterine leiomyosarcoma (LMS) are rare but aggressive tumors with poor clinical outcomes regardless of stage. Most tumors are identified by histopathology at time of surgery, and pre-operative diagnosis remains a clinical challenge. Management of early-stage LMS relies on surgical resection. Cytotoxic chemotherapy remains the mainstay of therapy for advanced-stage, recurrent, or metastatic LMS, and includes single or combination doxorubicin-, ifosfamide-, or gemcitabine-based regimens. Recent interest in genetic biomarkers led to developments of targeted therapies for LMS, although more research is needed to understand the molecular complexities underlying LMS to guide the development of novel treatment strategies...
January 27, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28127436/sperm-quality-and-paternal-age-effect-on-blastocyst-formation-and-pregnancy-rates
#13
Aurélie Chapuis, Anna Gala, Alice Ferrières-Hoa, Tiffany Mullet, Sophie Bringer-Deutsch, Emmanuelle Vintejoux, Antoine Torre, Samir Hamamah
BACKGROUND: Several studies suggest a decrease in sperm quality in men in the last decades. Therefore, the aim of this work was to assess the influence of male factors (sperm quality and paternal age) on the outcomes of conventional in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). METHODS: This retrospective study included all couples who underwent IVF or ICSI at Montpellier University Hospital, France, between 1 January 2010 and 31 December 2015...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#14
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wieacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#15
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28105368/clinical-and-immunologic-correlates-of-response-to-pd-1-blockade-in-a-patient-with-metastatic-renal-medullary-carcinoma
#16
Kathryn E Beckermann, Pradeep C Jolly, Ju Y Kim, Jennifer Bordeaux, Igor Puzanov, W Kimryn Rathmell, Douglas B Johnson
BACKGROUND: Renal medullary carcinoma (RMC) is a rare kidney tumor that occurs in adolescent and young adults, typically in association with sickle cell trait. RMC exhibits rapid disease progression, frequent metastases at diagnosis, and dismal clinical outcomes. Currently available therapies, including cisplatin-based combination chemotherapy, multi-tyrosine kinase, and mTOR inhibitor strategies demonstrate either transient responses or minimal activity. Therefore, further molecular characterization and additional treatment strategies are urgently needed in this aggressive disease...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28096226/disseminated-adenovirus-infection-causing-severe-ards
#17
Steven J Campbell, Jessica A Kynyk, John A Davis
A previously healthy young man with a rare genetic condition presented with severe acute respiratory distress syndrome secondary to pneumonia with septic shock. He did not improve with conventional therapy for his known causal organism thus prompting further workup. He was found to be profoundly immunosuppressed raising our suspicion for atypical organisms. A bronchoalveolar lavage sample was positive via PCR for adenovirus which we suspect exacerbated a pre-existing bacterial pneumonia and led to a severe and non-responsive respiratory failure...
January 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28074552/validation-of-microrna-pathway-polymorphisms-in-esophageal-adenocarcinoma-survival
#18
Olusola O Faluyi, Lawson Eng, Xin Qiu, Jiahua Che, Qihuang Zhang, Dangxiao Cheng, Nanjiao Ying, Alvina Tse, Qin Kuang, Lorin Dodbiba, Daniel J Renouf, Sharon Marsh, Sevtap Savas, Helen J Mackay, Jennifer J Knox, Gail E Darling, Rebecca K S Wong, Wei Xu, Abul Kalam Azad, Geoffrey Liu
Polymorphisms in miRNA and miRNA pathway genes have been previously associated with cancer risk and outcome, but have not been studied in esophageal adenocarcinoma outcomes. Here, we evaluate candidate miRNA pathway polymorphisms in esophageal adenocarcinoma prognosis and attempt to validate them in an independent cohort of esophageal adenocarcinoma patients. Among 231 esophageal adenocarcinoma patients of all stages/treatment plans, 38 candidate genetic polymorphisms (17 biogenesis, 9 miRNA targets, 5 pri-miRNA, 7 pre-miRNA) were genotyped and analyzed...
January 11, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28074213/-intrahepatic-cholestasis-of-pregnancy-rare-but-important
#19
REVIEW
A E Kremer, K Wolf, S Ständer
Intrahepatic cholestasis of pregnancy (ICP) is a liver-specific disorder occurring in approximately 0.5-2.0% of all pregnancies with a considerable variation in certain ethnic groups. ICP usually runs a benign course for the mother and is characterized by maternal pruritus mainly in the third trimester, elevated transaminases and fasting total serum bile salts and increased fetal adverse events. The etiology of ICP is only partially understood but seems to be multifactorial. Cholestasis-inducing effects of certain female sex hormones and their metabolites play an important role in genetically susceptible women...
January 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#20
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
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