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https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#1
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28434587/aligning-physiology-with-psychology-translational-neuroscience-in-neuropsychiatric-drug-discovery
#2
REVIEW
Robert A McArthur
This review presents an overview of some of the pre-clinical and clinical issues that have contributed to the failures of potential novel neuropsychiatric drugs, which have prompted a re-examination of the role of animal models of neuropsychiatric disorders. Advances both in basic neuroscience and technology have driven the development of animal models of aspects of neuropsychiatric disorders. Genetics and environmental factors have been the primary contributors to the development of new animal models. Neuroimaging has contributed to the search for biomarkers by which neuropsychiatric disorders may be identified and differentiated, its progression monitored and that the effects of therapy assessed...
May 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28431620/role-of-inflammatory-molecules-in-the-alzheimer-s-disease-progression-and-diagnosis
#3
REVIEW
Eva Bagyinszky, Vo Van Giau, Kyuhwan Shim, Kyoungho Suk, Seong Soo A An, SangYun Kim
Alzheimer's disease (AD) is a complex disorder and the most common form of neurodegenerative dementia. Several genetic, environmental, and physiological factors, including inflammations and metabolic influences, are involved in the progression of AD. Inflammations are composed of complicated networks of many chemokines and cytokines with diverse cells. Inflammatory molecules are needed for the protection against pathogens, and maintaining their balances is important for normal physiological function. Recent studies demonstrated that inflammation may be involved in neurodegenerative dementia...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28413688/presentation-and-care-of-a-family-with-huntington-disease-in-a-resource-limited-community
#4
Jarmal Charles, Lindyann Lessey, Jennifer Rooney, Ingmar Prokop, Katherine Yearwood, Hazel Da Breo, Patrick Rooney, Ruth H Walker, Andrew K Sobering
BACKGROUND: In high-income countries patients with Huntington disease (HD) typically present to healthcare providers after developing involuntary movements, or for pre-symptomatic genetic testing if at familial risk. A positive family history is a major guide when considering the decision to perform genetic testing for HD, both in affected and unaffected patients. Management of HD is focused upon control of symptoms, whether motor, cognitive, or psychiatric. There is no clear evidence to date of any disease-modifying agents...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28412737/whole-exome-sequencing-identifies-sgcd-and-acvrl1-mutations-associated-with-total-anomalous-pulmonary-venous-return-tapvr-in-chinese-population
#5
Jun Li, Shiwei Yang, Zhening Pu, Juncheng Dai, Tao Jiang, Fangzhi Du, Zhu Jiang, Yue Cheng, Genyin Dai, Jun Wang, Jirong Qi, Liming Cao, Xueying Cheng, Cong Ren, Xinli Li, Yuming Qin
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c...
February 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#6
Kalinga Khemal Nanayakkara, Undugodage Ganganath Rodrigo, Kuda Liyanage Nandika Perera, Chinthani Deepthi Nanayakkara
Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners...
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28388681/mule-deer-spatial-association-patterns-and-potential-implications-for-transmission-of-an-epizootic-disease
#7
María Fernanda Mejía-Salazar, Anne W Goldizen, Clementine S Menz, Ross G Dwyer, Simon P Blomberg, Cheryl L Waldner, Catherine I Cullingham, Trent K Bollinger
Animal social behaviour can have important effects on the long-term dynamics of diseases. In particular, preferential spatial relationships between individuals can lead to differences in the rates of disease spread within a population. We examined the concurrent influence of genetic relatedness, sex, age, home range overlap, time of year, and prion disease status on proximal associations of adult Rocky Mountain mule deer (Odocoileus hemionus hemionus) in a chronic wasting disease endemic area. We also quantified the temporal stability of these associations across different sex, age, and disease status classes...
2017: PloS One
https://www.readbyqxmd.com/read/28379183/rapid-identification-of-pathogenic-variants-in-two-cases-of-charcot-marie-tooth-disease-by-gene-panel-sequencing
#8
Chi-Chun Ho, Shuk-Mui Tai, Edmond Chi-Nam Lee, Timothy Shin-Heng Mak, Timothy Kam-Tim Liu, Victor Wai-Lun Tang, Wing-Tat Poon
Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple co-existing variants. In this study, a CMT gene panel comprising 27 genes was used to uncover the pathogenic mutations in two index patients...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28374951/newborn-screening-for-spinal-muscular-atrophy-the-views-of-affected-families-and-adults
#9
Felicity K Boardman, Philip J Young, Frances E Griffiths
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria. While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have been largely overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis. We have previously reported data on attitudes toward pre-conception and prenatal genetic screening for SMA among affected families (adults with SMA [n = 82] and family members [n = 255])...
April 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28371070/molecular-analysis-of-a-novel-intragenic-deletion-in-gpc3-in-three-cousins-with-simpson-golabi-behmel-syndrome
#10
Julia Schmidt, Ronja Hollstein, Frank J Kaiser, Gabriele Gillessen-Kaesbach
Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X-linked recessive and caused by deletions, duplications, and point mutations in GPC3, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division...
March 29, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#11
REVIEW
Bente A Talseth-Palmer
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#12
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28280651/prehospital-systolic-hypertension-and-outcomes-in-patients-with-spontaneous-intracerebral-hemorrhage
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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