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https://www.readbyqxmd.com/read/29790070/genotyping-single-sperm-cells-by-universal-marsala-enables-the-acquisition-of-linkage-information-for-combined-pre-implantation-genetic-diagnosis-and-genome-screening
#1
Haitao Wu, Xiaoting Shen, Lei Huang, Yanhong Zeng, Yumei Gao, Lin Shao, Baomin Lu, Yiping Zhong, Benyu Miao, Yanwen Xu, Yali Wang, Yubin Li, Luoxing Xiong, Sijia Lu, X Sunney Xie, Canquan Zhou
PURPOSE: This paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement of genotyping relevant affected family members or lengthy preliminary work on linkage analysis. METHODS: By utilizing a universal Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) strategy based on low depth whole genome sequencing (~3x), not involving specific primers' design nor the enrichment of SNP markers for haplotype construction...
May 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29786897/targeted-next-generation-sequencing-for-the-diagnosis-of-patients-with-rare-congenital-anemias
#2
Noa Shefer Averbuch, Orna Steinberg-Shemer, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Joanne Yacobovich, Amir A Kuperman, Antonis Kattamis, Ayelet Ben Barak, Batia Roth-Jelinek, Evgeni Chubar, Evelyn Shabad, Gustavo Dufort, Martin Ellis, Ofir Wolach, Idit Pazgal, Abed Abu Quider, Hagit Miskin, Hannah Tamary
BACKGROUND: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. OBJECTIVE: We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next-generation sequencing...
May 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29780592/preleukemic-and-second-hit-mutational-events-in-an-acute-myeloid-leukemia-patient-with-a-novel-germline-runx1-mutation
#3
Isaac Ks Ng, Joanne Lee, Christopher Ng, Bustamin Kosmo, Lily Chiu, Elaine Seah, Michelle Meng Huang Mok, Karen Tan, Motomi Osato, Wee-Joo Chng, Benedict Yan, Lip Kun Tan
Background: Germline mutations in the RUNX1 transcription factor give rise to a rare autosomal dominant genetic condition classified under the entity: Familial Platelet Disorders with predisposition to Acute Myeloid Leukaemia (FPD/AML). While several studies have identified a myriad of germline RUNX1 mutations implicated in this disorder, second-hit mutational events are necessary for patients with hereditary thrombocytopenia to develop full-blown AML. The molecular picture behind this process remains unclear...
2018: Biomarker Research
https://www.readbyqxmd.com/read/29766829/acute-myeloid-leukemia-diagnosis-and-management-based-on-current-molecular-genetics-approach
#4
E Suguna, R Farhana, E Kanimozhi, P SaiKumar, G Kumaramanickavel, Chitralekha Sai Kumar
Background &Objective: Acute myeloid leukemia (AML) is characterized by accumulation of ?20% myeloid premature blast cells in the bone marrow and most often found in the peripheral blood. AML is generally classified based on two groups, namely, French-American-British (FAB) and World Health Organization (WHO) systems. For better clinical management, cytogenetic findings in AML are necessary and in patients with normal karyotypes, molecular analysis becomes critical. Mutations of certain genes like Nucleophosmin 1gene (NPM1), Fms-related Tyrosine Kinase 3 (FLT3), CCAAT/Enhancer Binding Protein Alpha (CEBPA), Runt-related transcription factor 1(RUNX1), and Mixed Lineage Leukemia (MLL) play a crucial role in the risk management and clinical stratification of AML patients...
May 15, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29766597/a-functional-assay-for-the-clinical-annotation-of-genetic-variants-of-uncertain-significance-in-diamond-blackfan-anemia
#5
Anna Aspesi, Marta Betti, Marika Sculco, Chiara Actis, Cristina Olgasi, Marcin W Wlodarski, Adrianna Vlachos, Jeffrey M Lipton, Ugo Ramenghi, Claudio Santoro, Antonia Follenzi, Steven R Ellis, Irma Dianzani
Diamond-Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more challenging in the case of missense mutations and small in-frame indels...
May 15, 2018: Human Mutation
https://www.readbyqxmd.com/read/29756715/an-update-on-amniotic-bands-sequence
#6
Eunice López-Muñoz, Luis E Becerra-Solano
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29752813/the-long-exercise-test-in-periodic-paralysis-a-bayesian-analysis
#7
Daniel B Simmons, Julie Lanning, James C Cleland, Araya Puwanant, Paul T Twydell, Robert C Griggs, Rabi Tawil, Eric L Logigian
INTRODUCTION: The long exercise test (LET) is used to assess the diagnosis of periodic paralysis (PP), but LET methodology and normal "cut-off" values vary. METHODS: To determine optimal LET methodology and cut-offs, we reviewed LET data (abductor digiti minimi (ADM) motor response amplitude, area) from 55 PP patients (32 genetically definite) and 125 controls. Receiver operating characteristic (ROC) curves were constructed and area-under-the-curve (AUC) calculated to compare 1) peak-to-nadir versus baseline-to-nadir methodologies, and 2) amplitude versus area decrements...
May 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29744770/global-report-on-primary-immunodeficiencies-2018-update-from-the-jeffrey-modell-centers-network-on-disease-classification-regional-trends-treatment-modalities-and-physician-reported-outcomes
#8
Vicki Modell, Jordan S Orange, Jessica Quinn, Fred Modell
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. In fact, recent studies have shown that PI may be more common than previously estimated and that as many as 1% of the population may be affected with a PI when all types and varieties are considered. In order to raise awareness of PI with the overall goal of reducing associated morbidity and mortality, the Jeffrey Modell Foundation (JMF) established a network of specialized centers that could better identify, diagnose, treat, and follow patients with PI disorders...
May 9, 2018: Immunologic Research
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#9
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29714058/the-impact-of-contemporary-preimplantation-genetic-screening-and-diagnosis-on-the-detection-of-aneuploidy-and-inherited-genetic-diseases
#10
REVIEW
Shelby A Neal, Marie D Werner
Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.
May 1, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29704693/cardiac-arrest-during-spine-surgery-in-the-prone-position-case-report-and-review-of-the-literature
#11
REVIEW
Victor E Staartjes, Shiva A Schillevoort, Patricia G Blum, J Peter van Tintelen, Wouter E Kok, Marc L Schröder
OBJECTIVE: Intraoperative cardiac arrest (CA) is usually attributable to pre-existing disease, or to intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It is essential that neurosurgeons are aware of the etiologies, risk factors, and initial management of CA during surgery in the prone position. METHODS: We present a case of CA directly after spinal fusion for lumbar spondylolisthesis, and review the literature on cardiac arrests during spinal neurosurgery in the prone position...
April 26, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29700101/evaluation-of-a-decision-aid-for-incidental-genomic-results-the-genomics-adviser-protocol-for-a-mixed-methods-randomised-controlled-trial
#12
Salma Shickh, Marc Clausen, Chloe Mighton, Selina Casalino, Esha Joshi, Emily Glogowski, Kasmintan A Schrader, Adena Scheer, Christine Elser, Seema Panchal, Andrea Eisen, Tracy Graham, Melyssa Aronson, Kara M Semotiuk, Laura Winter-Paquette, Michael Evans, Jordan Lerner-Ellis, June C Carroll, Jada G Hamilton, Kenneth Offit, Mark Robson, Kevin E Thorpe, Andreas Laupacis, Yvonne Bombard
INTRODUCTION: Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequencing faces challenges including the lack of consensus on disclosure of incidental results, gene changes unrelated to the disease under investigation, but of potential clinical significance to the patient and their provider. Current recommendations encourage clinicians to return medically actionable incidental results and stress the importance of education and informed consent...
April 26, 2018: BMJ Open
https://www.readbyqxmd.com/read/29687227/high-resolution-ct-findings-of-pulmonary-interstitial-glycogenosis
#13
Jason P Weinman, Christina J White, Deborah R Liptzin, Robin R Deterding, Csaba Galambos, Lorna P Browne
BACKGROUND: Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available...
April 23, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29680930/splicing-mutations-in-human-genetic-disorders-examples-detection-and-confirmation
#14
REVIEW
Abramowicz Anna, Gos Monika
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing regulatory sequences (intronic and exonic splicing silencers and enhancers), create new ones, or activate the cryptic ones...
April 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29667775/views-of-parents-of-children-with-sickle-cell-disease-on-pre-implantation-genetic-diagnosis
#15
Isha Darbari, Jeanne E O'Brien, Steven J Hardy, Barbara Speller-Brown, Lisa Thaniel, Brenda Martin, Deepika S Darbari, Robert S Nickel
Pre-implantation genetic diagnosis (PGD) is an option for parents who have a child with sickle cell disease (SCD) to have another child without SCD. We conducted a survey of 19 parents with at least one child with SCD to investigate views on PGD. Before education, 44% of parents were aware of PGD. All parents rated PGD education as important. All parents considering another child also reported interest in using PGD if insurance covered its costs. Parents who have a child with SCD appear to be interested in PGD and educational tools informing this group about PGD should be developed...
April 18, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29667069/the-versatile-role-of-exosomes-in-cancer-progression-diagnostic-and-therapeutic-implications
#16
REVIEW
Vignesh Sundararajan, Fazlul H Sarkar, Thamil Selvee Ramasamy
BACKGROUND: Recent advances in cancer biology have highlighted the relevance of exosomes and nanovesicles as carriers of genetic and biological messages between cancer cells and their immediate and/or distant environments. It has been found that these molecular cues may play significant roles in cancer progression and metastasis. Cancer cells secrete exosomes containing diverse molecules that can be transferred to recipient cells and/or vice versa to induce a plethora of biological processes, including angiogenesis, metastasis formation, therapeutic resistance, epithelial-mesenchymal transition and epigenetic/stemness (re)programming...
April 17, 2018: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/29664509/congenital-hydrocephalus-g%C3%A3-mez-l%C3%A3-pez-hern%C3%A3-ndez-syndrome-an-underdiagnosed-syndrome-a-clinical-case
#17
Camila Gálvez V, Isidro Huete, Marta Hernández
INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29663285/exosomes-in-acquired-neurological-disorders-new-insights-into-pathophysiology-and-treatment
#18
REVIEW
Nicole Osier, Vida Motamedi, Katie Edwards, Ava Puccio, Ramon Diaz-Arrastia, Kimbra Kenney, Jessica Gill
Exosomes are endogenous nanovesicles that play critical roles in intercellular signaling by conveying functional genetic information and proteins between cells. Exosomes readily cross the blood-brain barrier and have promise as therapeutic delivery vehicles that have the potential to specifically deliver molecules to the central nervous system (CNS). This unique feature also makes exosomes attractive as biomarkers in diagnostics, prognostics, and therapeutics in the context of multiple significant public health conditions, including acquired neurological disorders...
April 16, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29651777/cost-effectiveness-of-genome-and-exome-sequencing-in-children-diagnosed-with-autism-spectrum-disorder
#19
Tracy Yuen, Melissa T Carter, Peter Szatmari, Wendy J Ungar
BACKGROUND: Genome (GS) and exome sequencing (ES) could potentially identify pathogenic variants with greater sensitivity than chromosomal microarray (CMA) in autism spectrum disorder (ASD) but are costlier and result interpretation can be uncertain. Study objective was to compare the costs and outcomes of four genetic testing strategies in children with ASD. METHODS: A microsimulation model estimated the outcomes and costs (in societal and public payer perspectives in Ontario, Canada) of four genetic testing strategies: CMA for all, CMA for all followed by ES for those with negative CMA and syndromic features (CMA+ES), ES or GS for all...
April 12, 2018: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/29616660/evolutionary-pruning-of-transfer-learned-deep-convolutional-neural-network-for-breast-cancer-diagnosis-in-digital-breast-tomosynthesis
#20
Ravi K Samala, Heang-Ping Chan, Lubomir M Hadjiiski, Mark A Helvie, Caleb Richter, Kenny Cha
Deep learning models are highly parameterized, resulting in difficulty in inference and transfer learning for image recognition tasks. In this work, we propose a layered pathway evolution method to compress a deep convolutional neural network (DCNN) for classification of masses in digital breast tomosynthesis (DBT). The objective is to prune the number of tunable parameters while preserving the classification accuracy. In the first stage transfer learning, 19,632 augmented regions-of-interest (ROIs) from 2,454 mass lesions on mammograms were used to train a pre-trained DCNN on ImageNet...
April 4, 2018: Physics in Medicine and Biology
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