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https://www.readbyqxmd.com/read/28280651/prehospital-systolic-hypertension-and-outcomes-in-patients-with-spontaneous-intracerebral-hemorrhage
#1
Stacy Hatcher, Connie Chen, Prasanthi Govindarajan
BACKGROUND: It is well known that hematoma volume and expansion is associated with poor outcomes in patients with spontaneous intracerebral hemorrhage (sICH). The factors associated with hematoma volume and possible expansion include the use of anticoagulant medications, autoimmune or bacterial diseases that reduce platelet production, and genetic defects of Von Willebrand factor causing inhibition or reduction of platelet aggregation. However, little is known about the role of elevated systolic blood pressure (SBP) on hematoma volume and its ultimate role on sICH when identified in the prehospital setting...
January 26, 2017: Curēus
https://www.readbyqxmd.com/read/28265801/performing-and-declining-pgd-accounts-of-jewish-israeli-women-who-carry-a-brca1-2-mutation-or-partners-of-male-mutation-carriers
#2
Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman, Baruch Feldman
To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD...
March 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28264065/maternal-cancer-and-congenital-anomalies-in-children-a-danish-nationwide-cohort-study
#3
Natalie C Momen, Andreas Ernst, Linn Håkonsen Arendt, Jørn Olsen, Jiong Li, Mika Gissler, Finn Rasmussen, Cecilia Høst Ramlau-Hansen
Several studies on pregnancy-associated cancers have suggested an association with congenital anomalies in offspring. Previous studies have included maternal cancers diagnosed up to 2 years after pregnancy; however, long latency periods of some cancers mean that cancers diagnosed many years postpartum might have been present during pregnancy in a preclinical state. This paper considers the association between maternal cancers diagnosed from 2 years prior to pregnancy until the mother reaches 50 years of age, and congenital anomalies, as diagnosed at birth or within the first year of life...
2017: PloS One
https://www.readbyqxmd.com/read/28262436/gene-environment-interaction-as-a-predictor-of-early-adjustment-in-first-episode-psychosis
#4
David Fraguas, Covadonga M Díaz-Caneja, Iluminada Corripio, Ana González-Pinto, Antonio Lobo, Miquel Bioque, Manuel J Cuesta, Julio Sanjuán, Elisa Rodríguez-Toscano, Bárbara Arias, Salvador Sarró, Bibiana Cabrera, Antoni Bulbena, Eduard Vieta, Josefina Castro-Fornieles, Celso Arango, Miquel Bernardo, Mara Parellada
BACKGROUND: This study aims to explore the gene-environment interaction hypothesis applied to pre-symptomatic neurodevelopmental phenotypes of first episode psychosis (FEP), that is, genetic factors might increase vulnerability to the effects of environmental adverse conditions occurring at later stages of development. METHODS: We constructed a schematic 'two-hit' model, with Val/Val homozygosity for the catechol-O-methyltransferase (COMT) Val158Met polymorphism as the 'first hit' and history of obstetric complications and parental socioeconomic status as 'second hits'...
March 2, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28241424/exome-sequencing-in-a-family-with-luminal-type-breast-cancer-underpinned-by-variation-in-the-methylation-pathway
#5
Nicole van der Merwe, Armand V Peeters, Fredrieka M Pienaar, Juanita Bezuidenhout, Susan J van Rensburg, Maritha J Kotze
Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer (<30 years)...
February 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28235399/case-report-of-an-atypical-early-onset-x-linked-retinoschisis-in-monozygotic-twins
#6
Vittoria Murro, Roberto Caputo, Giacomo Maria Bacci, Andrea Sodi, Dario Pasquale Mucciolo, Sara Bargiacchi, Sabrina Rita Giglio, Gianni Virgili, Stanislao Rizzo
BACKGROUND: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression. CASE PRESENTATION: We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages...
February 24, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28224271/the-perfect-womb-promoting-equality-of-fetal-opportunity
#7
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
#8
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
#9
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 15, 2017: Hearing Research
https://www.readbyqxmd.com/read/28198391/mcm5-a-new-actor-in-the-link-between-dna-replication-and-meier-gorlin-syndrome
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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