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Pre genetic diagnosis

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https://www.readbyqxmd.com/read/28520890/vcf-filter-interactive-prioritization-of-disease-linked-genetic-variants-from-sequencing-data
#1
Heiko Müller, Raul Jimenez-Heredia, Ana Krolo, Tatjana Hirschmugl, Jasmin Dmytrus, Kaan Boztug, Christoph Bock
Next generation sequencing is widely used to link genetic variants to diseases, and it has massively accelerated the diagnosis and characterization of rare genetic diseases. After initial bioinformatic data processing, the interactive analysis of genome, exome, and panel sequencing data typically starts from lists of genetic variants in VCF format. Medical geneticists filter and annotate these lists to identify variants that may be relevant for the disease under investigation, or to select variants that are reported in a clinical diagnostics setting...
May 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28518170/prenatal-exome-sequencing-in-anomalous-fetuses-new-opportunities-and-challenges
#2
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M Powell, Debra Skinner, Christine Rini, Anne D Lyerly, Kim A Boggess, Karen Weck, Jonathan S Berg, James P Evans
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.MethodsExome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#3
M Castagnola, E Scarano, G C Passali, I Messana, T Cabras, F Iavarone, G Di Cintio, A Fiorita, E De Corso, G Paludetti
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora...
April 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28513632/how-to-stomach-an-epigenetic-insult-the-gastric-cancer-epigenome
#4
REVIEW
Nisha Padmanabhan, Toshikazu Ushijima, Patrick Tan
Gastric cancer is a deadly malignancy afflicting close to a million people worldwide. Patient survival is poor and largely due to late diagnosis and suboptimal therapies. Disease heterogeneity is a substantial obstacle, underscoring the need for precision treatment strategies. Studies have identified different subgroups of gastric cancer displaying not just genetic, but also distinct epigenetic hallmarks. Accumulating evidence suggests that epigenetic abnormalities in gastric cancer are not mere bystander events, but rather promote carcinogenesis through active mechanisms...
May 17, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28494825/prader-willi-syndrome-background-and-management
#5
Ylenia Abdilla, Maria Andria Barbara, Jean Calleja-Agius
The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28484423/evaluation-of-salivary-cytokines-for-diagnosis-of-both-trauma-induced-and-genetic-heterotopic-ossification
#6
Hsiao Hsin Sung Hsieh, Michael T Chung, Ronald M Allen, Kavitha Ranganathan, Joe Habbouche, David Cholok, Jonathan Butts, Arminder Kaura, Ramkumar Tiruvannamalai-Annamalai, Chris Breuler, Caitlin Priest, Shawn J Loder, John Li, Shuli Li, Jan Stegemann, Steven L Kunkel, Benjamin Levi
PURPOSE: Heterotopic ossification (HO) occurs in the setting of persistent systemic inflammation. The identification of reliable biomarkers can serve as an early diagnostic tool for HO, especially given the current lack of effective treatment strategies. Although serum biomarkers have great utility, they can be inappropriate or ineffective in traumatic acute injuries and in patients with fibrodysplasia ossificans progressiva (FOP). Therefore, the goal of this study is to profile the cytokines associated with HO using a different non-invasive source of biomarkers...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28472008/syndromic-and-nonsyndromic-systemic-associations-of-congenital-lacrimal-drainage-anomalies-a-major-review
#7
Mohammad Javed Ali, Friedrich Paulsen
PURPOSE: To review and summarize the syndromic, nonsyndromic, and systemic associations of congenital lacrimal drainage anomalies. METHODS: The authors performed a PubMed search of all articles published in English on congenital lacrimal anomalies (1933-2016). Patients of these articles were reviewed along with the literature of direct references to syndromes and other systemic associations. Data reviewed included syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes...
May 2, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28466039/characterization-of-genomic-changes-in-the-cervical-pre-cancerous-lesions-and-tumors-induced-by-different-types-of-human-papillomaviruses
#8
Petar Grozdanov, Savina Hadjidekova, Ivanka Dimova, Ivanka Nikolova, Draga Toncheva, Gancho Ganchev, Victor Zlatkov, Angel S Galabov
Cervical carcinoma is the second most common malignancy among women in both incidence and mortality. Although much is known about the etiology and treatment of cervical cancer, the role of genetic alterations in the multistep pathway of cervical tumorigenesis is largely unknown. The aim of this study was to characterize the genomic changes in the cervical pre-cancerous lesions and tumors, induced by different types of human papillomaviruses. In this research was used the BlueGnome CytoChip oligo 2 × 105 K microarray for whole-genome oligo-array CGH...
September 2016: Virusdisease
https://www.readbyqxmd.com/read/28465630/pathogenesis-and-clinical-spectrum-of-primary-sclerosing-cholangitis
#9
REVIEW
Neelam G Gidwaney, Swati Pawa, Kiron M Das
Primary sclerosing cholangitis (PSC) is a disease of the biliary tract, which has been documented in the literature since 1867. This disease has a strong predilection for affecting men and can be seen in individuals as young as 2 years of age. PSC has a strong associated with inflammatory bowel disease, more commonly with ulcerative colitis, and is also part of the clinical spectrum of IgG4-related diseases. Small-duct PSC, a variant of PSC, also has an association with inflammatory bowel disease. The exact pathogenesis of PSC is not well understood at present, however, is likely a combination of a genetic predisposition with alteration of the molecular structure of the gut...
April 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28461505/suppressors-and-activators-of-jak-stat-signaling-at-diagnosis-and-relapse-of-acute-lymphoblastic-leukemia-in-down-syndrome
#10
Omer Schwartzman, Angela Maria Savino, Michael Gombert, Chiara Palmi, Gunnar Cario, Martin Schrappe, Cornelia Eckert, Arend von Stackelberg, Jin-Yan Huang, Michal Hameiri-Grossman, Smadar Avigad, Geertruy Te Kronnie, Ifat Geron, Yehudit Birger, Avigail Rein, Giulia Zarfati, Ute Fischer, Zohar Mukamel, Martin Stanulla, Andrea Biondi, Giovanni Cazzaniga, Amedeo Vetere, Bridget K Wagner, Zhu Chen, Sai-Juan Chen, Amos Tanay, Arndt Borkhardt, Shai Izraeli
Children with Down syndrome (DS) are prone to development of high-risk B-cell precursor ALL (DS-ALL), which differs genetically from most sporadic pediatric ALLs. Increased expression of cytokine receptor-like factor 2 (CRLF2), the receptor to thymic stromal lymphopoietin (TSLP), characterizes about half of DS-ALLs and also a subgroup of sporadic "Philadelphia-like" ALLs. To understand the pathogenesis of relapsed DS-ALL, we performed integrative genomic analysis of 25 matched diagnosis-remission and -relapse DS-ALLs...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#11
Andreas Greinacher, Alessandro Pecci, Shinji Kunishima, Karina Althaus, Paquita Nurden, Carlo L Balduini, Tamam Bakchoul
BACKGROUND: Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging. Diagnostic laboratory techniques are available only in a few specialized centers and, using fresh blood, often require the patient to travel long distances. For the same reasons, patients living in developing countries usually have limited access to diagnosis. Further, the required amount of blood is often prohibitive for pediatric patients...
April 29, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28455751/national-trends-and-outcomes-of-autologous-in-vitro-fertilization-cycles-among-women-ages-40-years-and-older
#12
Heather Hipp, Sara Crawford, Jennifer F Kawwass, Sheree L Boulet, David A Grainger, Dmitry M Kissin, Denise Jamieson
PURPOSE: The purpose of the study was to describe trends in and investigate variables associated with clinical pregnancy and live birth in autologous in vitro fertilization (IVF) cycles among women ≥40 years. METHODS: We used autologous IVF cycle data from the National ART Surveillance System (NASS) for women ≥40 years at cycle start. We assessed trends in fresh and frozen cycles (n = 371,536) from 1996 to 2013. We reported perinatal outcomes and determined variables associated with clinical pregnancy and live birth in fresh cycles between 2007 and 2013...
April 28, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28447499/is-pre-implantation-genetic-diagnosis-pgd-more-of-a-strain-regarding-satisfaction-with-marital-quality-for-male-or-female-partners-a-three-year-follow-up-study
#13
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
INTRODUCTION: Men and women with a hereditary genetic disease are faced with different options when they plan 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 focuses on how men and women planning for PGD experience the quality of marital satisfaction when they apply for treatment and again, three years later. METHODS: The study was a prospective cohort study where all couples (n = 22) applying for PGD during 2010 and 2011 were eligible...
April 27, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28446182/improving-preimplantation-genetic-diagnosis-pgd-reliability-by-selection-of-sperm-donor-with-the-most-informative-haplotype
#14
Mira Malcov, Veronica Gold, Sagit Peleg, Tsvia Frumkin, Foad Azem, Ami Amit, Dalit Ben-Yosef, Yuval Yaron, Adi Reches, Shimi Barda, Sandra E Kleiman, Leah Yogev, Ron Hauser
BACKGROUND: The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier's one. METHODS: A panel of 4-9 informative polymorphic markers, flanking the mutation in carriers of autosomal dominant/X-linked disorders, was tested in DNA of sperm donors before PGD. Whenever the lengths of donors' repeats overlapped those of the women, additional donors' DNA samples were analyzed...
April 26, 2017: Reproductive Biology and Endocrinology: RB&E
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
#15
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
#16
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
#17
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
#18
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
#19
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...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#20
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
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