keyword
MENU ▼
Read by QxMD icon Read
search

Pre genetic diagnosis

keyword
https://www.readbyqxmd.com/read/28074552/validation-of-microrna-pathway-polymorphisms-in-esophageal-adenocarcinoma-survival
#1
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
#2
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
#3
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 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28060554/current-molecular-and-genetic-aspects-of-pancreatic-cancer-the-role-of-metastasis-associated-proteins-mta-a-review
#4
Efstathios T Pavlidis, Theodoros E Pavlidis
: Purpose/aim: To focus on current molecular and genetic aspects and MTA proteins, since pancreatic cancer is a lethal malignant with poor prognosis. Early diagnosis is essential step, contributing to potential curative resection. MATERIALS AND METHODS: A PubMed search of relevant articles published up to August 2016 was performed to identify current information about pancreatic cancer regarding molecular biomarkers, with emphasis on carcinogenesis, novel therapeutic targets, and MTA proteins...
January 6, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/28053319/pre-diagnostic-genotyping-identifies-t1d-subjects-with-impaired-treg-il-2-signaling-and-an-elevated-proportion-of-foxp3-il-17-cells
#5
A K Marwaha, C Panagiotopoulos, C M Biggs, S Staiger, K L Del Bel, A F Hirschfeld, J J Priatel, S E Turvey, R Tan
T-regulatory cells (Tregs) are essential for immune tolerance, and animal studies implicate their dysfunction in type 1 diabetes (T1D) pathogenesis. Tregs require interleukin-2 (IL-2) for their suppressive function, and variants in IL-2/IL-2R pathway genes have been associated with T1D. We previously reported that recent-onset T1D subjects have an increased population of FOXP3(lo) Tregs that secrete the pro-inflammatory cytokine, interleukin-17 (IL-17). We hypothesize that IL-2 signaling defects may drive T1D development by skewing protective Tregs towards an inflammatory Th17 phenotype...
January 5, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28050963/live-births-after-polar-body-biopsy-and-frozen-thawed-cleavage-stage-embryo-transfer-case-report
#6
Fernando Guimarães, Matheus Roque, Marcello Valle, Alessandra Kostolias, Rodrigo A de Azevedo, Ciro D Martinhago, Marcos Sampaio, Selmo Geber
Pre-implantation genetic diagnosis (PGD) or screening (PGS) technology, has emerged and developed in the past few years, benefiting couples as it allows the selection and transfer of healthy embryos during IVF treatments. These techniques can be performed in oocytes (polar-body biopsy) or embryos (blastomere or trophectoderm biopsy). In this case report, we describe the first two live births to be published in Brazil after a polar-body (PB) biopsy. In case 1, a 42-year-old was submitted to PB biopsy with PGS due to advanced maternal age and poor ovarian reserve...
December 1, 2016: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28047393/su-f-r-28-correction-of-fch-pet-bladder-uptake-using-virtual-sinograms-and-investigation-of-its-impact-on-the-quantification-of-prostate-textural-characteristics
#7
S Laberge, J Beauregard, L Archambault
PURPOSE: Textural biomarkers as a tool for quantifying intratumoral heterogeneity hold great promise for diagnosis and early assessment of treatment response in prostate cancer. However, spill-in counts from the bladder uptake are suspected to have an impact on the textural measurements of the prostate volume. This work proposes a correction method for the FCh-PET bladder uptake and investigates its impact on intraprostatic textural properties. METHODS: Two patients with PC received pre-treatment dynamic FCh-PET scans reconstructed at four time points (interval: 2 min), for which prostate and bladder contours were obtained...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28045213/longitudinal-diffusion-changes-in-prodromal-and-early-hd-evidence-of-white-matter-tract-deterioration
#8
Joseph J Shaffer, Ali Ghayoor, Jeffrey D Long, Regina Eun-Young Kim, Spencer Lourens, Lauren J O'Donnell, Carl-Fredrik Westin, Yogesh Rathi, Vincent Magnotta, Jane S Paulsen, Hans J Johnson
INTRODUCTION: Huntington's disease (HD) is a genetic neurodegenerative disorder that primarily affects striatal neurons. Striatal volume loss is present years before clinical diagnosis; however, white matter degradation may also occur prior to diagnosis. Diffusion-weighted imaging (DWI) can measure microstructural changes associated with degeneration that precede macrostructural changes. DWI derived measures enhance understanding of degeneration in prodromal HD (pre-HD). METHODS: As part of the PREDICT-HD study, N = 191 pre-HD individuals and 70 healthy controls underwent two or more (baseline and 1-5 year follow-up) DWI, with n = 649 total sessions...
January 3, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28045094/building-a-genetic-risk-model-for-bipolar-disorder-from-genome-wide-association-data-with-random-forest-algorithm
#9
Li-Chung Chuang, Po-Hsiu Kuo
A genetic risk score could be beneficial in assisting clinical diagnosis for complex diseases with high heritability. With large-scale genome-wide association (GWA) data, the current study constructed a genetic risk model with a machine learning approach for bipolar disorder (BPD). The GWA dataset of BPD from the Genetic Association Information Network was used as the training data for model construction, and the Systematic Treatment Enhancement Program (STEP) GWA data were used as the validation dataset. A random forest algorithm was applied for pre-filtered markers, and variable importance indices were assessed...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28040136/clinical-findings-and-molecular-cytogenetic-study-of-de-novo-pure-chromosome-9p-deletion-pre-and-postnatal-diagnosis
#10
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao
OBJECTIVE: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases. MATERIALS AND METHODS: A 30-year-old woman was referred to a hospital at 19(+1) weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28028025/genomics-of-chronic-neutrophilic-leukemia
#11
Julia E Maxson, Jeffrey W Tyner
Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm with a high prevalence (>80%) of mutations in the Colony Stimulating Factor 3 Receptor (CSF3R). These mutations activate the receptor, leading to the proliferation of neutrophils that are a hallmark of CNL. Recently, the World Health Organization (WHO) guidelines have been updated to include CSF3R mutations as a part of the diagnostic criteria for CNL. Due to the high prevalence of CSF3R mutations in CNL, it is tempting to think of this disease as being solely driven by this genetic lesion...
December 27, 2016: Blood
https://www.readbyqxmd.com/read/28018431/genetic-and-clinical-features-of-medullary-thyroid-carcinoma-the-experience-of-a-single-center-in-costa-rica
#12
Javier Calvo, Gabriel Torrealba, Adriana Sáenz, Carlos Santamaría, Estela Morera, Silvia Alvarado, Yolanda Roa, Michelle González
Background. Activating mutations in the RET gene leads to medullary thyroid carcinoma (MTC). Guidelines encourage performing RET analysis in subjects with hereditary and sporadic disease. Materials and Methods. Design. Observational, case series report study. Patients. Subjects diagnosed with MTC, with a thyroidectomy performed in a single center in Costa Rica between the years 2006 and 2015. Diagnosis and Follow-Up. Pre- and postoperative calcitonin, RET mutation, and neck ultrasound and tomography were obtained...
2016: Journal of Cancer Epidemiology
https://www.readbyqxmd.com/read/28010732/the-effect-of-a-germline-mutation-in-the-apc-gene-on-%C3%AE-catenin-in-human-embryonic-stem-cells
#13
Nofar Yedid, Yael Kalma, Mira Malcov, Ami Amit, Revital Kariv, Michal Caspi, Rina Rosin-Arbesfeld, Dalit Ben-Yosef
BACKGROUND: Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the development of polyps that will turn malignant if not removed. It is not fully understood which molecular mechanisms are activated by APC loss and when the loss of the second APC allele occurs...
December 23, 2016: BMC Cancer
https://www.readbyqxmd.com/read/28000698/mosaicism-and-prenatal-diagnosis-options-insights-from-retinoblastoma
#14
Catherine Dehainault, Lisa Golmard, Gaël A Millot, Agathe Charpin, Anthony Laugé, Julien Tarabeux, Isabelle Aerts, Nathalie Cassoux, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Claude Houdayer
In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On the other hand, a pre-zygotic mutation transmitted by an unaffected mosaic parent implies recurrent risks in offspring. To better estimate the contribution of pre- and post-zygotic events, we analysed 124 consecutive bilateral retinoblastoma probands, carrying a heterozygous RB1 pathogenic variant and their unaffected, non-carrier parents...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27997009/-genomics-of-lung-adenocarcinoma-pathogenetic-significance-and-clinical-applications
#15
Raffaele Palmirotta, Silvana Acquafredda, Antonella Argentiero, Claudia Carella, Laura Lanotte, Nicla Pappagallo, Davide Quaresmini, Franco Silvestris
Diagnostic and therapeutic approaches to non small cell lung cancer (NSCLC), especially adenocarcinoma, have recently undergone dramatic evolution according to the tremendous amount of molecular data collected on this cancer. In fact, the application of oncogenomics has identified novel molecular subtypes of NSCLC and led the way to diagnostic criteria based on the expression of specific genetic alterations that can provide prognostic and specific indications to the molecular targeted therapies. In NSCLC, several genes show "driver" molecular alterations that confer oncogenic potential to progenitor cells through the enrollment of metabolic pathways critical for cell proliferation and tumor development...
December 2016: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/27995446/public-perceptions-of-ethical-legal-and-social-implications-of-pre-implantation-genetic-diagnosis-pgd-in-malaysia
#16
Angelina P Olesen, Siti Nurani Mohd Nor, Latifah Amin, Anisah Che Ngah
Pre-implantation genetic diagnosis (PGD) became well known in Malaysia after the birth of the first Malaysian 'designer baby', Yau Tak in 2004. Two years later, the Malaysian Medical Council implemented the first and only regulation on the use of Pre-implantation Genetic Diagnosis in this country. The birth of Yau Tak triggered a public outcry because PGD was used for non-medical sex selection thus, raising concerns about PGD and its implications for the society. This study aims to explore participants' perceptions of the future implications of PGD for the Malaysian society...
December 19, 2016: Science and Engineering Ethics
https://www.readbyqxmd.com/read/27979918/pre-term-birth-and-low-birth-weight-following-preimplantation-genetic-diagnosis-analysis-of-88-010-singleton-live-births-following-pgd-and-ivf-cycles
#17
Sesh Kamal Sunkara, Belavendra Antonisamy, Hepsy Y Selliah, Mohan S Kamath
STUDY QUESTION: Is PGD associated with the risk of adverse perinatal outcomes such as pre-term birth (PTB) and low birth weight (LBW)? SUMMARY ANSWER: There was no increase in the risk of adverse perinatal outcomes of PTB, and LBW following PGD compared with autologous IVF. WHAT IS KNOWN ALREADY: Pregnancies resulting from ART are associated with a higher risk of pregnancy complications compared with spontaneously conceived pregnancies. The possible reason of adverse obstetric outcomes following ART has been attributed to the underlying infertility itself and embryo specific epigenetic modifications due to the IVF techniques...
December 15, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27941737/challenges-in-hba1c-level-as-a-diagnostic-tool-of-diabetes-and-pre-diabetes-in-middle-aged-population-the-bangladesh-study
#18
A Begum, M A Muttalib, M N Arefin, M R Hoque, Z A Sheme, N Akter, U K Paul
Worldwide prevalence of diabetes is found to be the human health at an alarming rate. However, large numbers of patient remain undiagnosed. Oral glucose tolerance test (OGTT) still is regarded as gold standard in diagnosis of blood glucose abnormality. Although the less number of bodies are considering measurement of HbA1C as an alternate tool to identify risk group. This study was undertaken to evaluate the role of measurement of HbA1C in the diagnosis of diabetes and pre-diabetes in middle-aged Bangladeshi subjects and carried out in the department of Biochemistry, BIRDEM from July 2013 to June 2014...
October 2016: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/27932276/the-why-and-how-of-amino-acid-analytics-in-cancer-diagnostics-and-therapy
#19
REVIEW
Friederike Manig, Konstantin Kuhne, Cläre von Neubeck, Uwe Schwarzenbolz, Zhanru Yu, Benedikt M Kessler, Jens Pietzsch, Leoni A Kunz-Schughart
Pathological alterations in cell functions are frequently accompanied by metabolic reprogramming including modifications in amino acid metabolism. Amino acid detection is thus integral to the diagnosis of many hereditary metabolic diseases. The development of malignant diseases as metabolic disorders comes along with a complex dysregulation of genetic and epigenetic factors affecting metabolic enzymes. Cancer cells might transiently or permanently become auxotrophic for non-essential or semi-essential amino acids such as asparagine or arginine...
January 20, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/27931090/prenatal-diagnosis-of-susceptibility-loci-for-neurodevelopmental-disorders-genetic-counseling-and-pregnancy-outcome-in-57-cases
#20
Lutgarde Govaerts, Malgorzata Srebniak, Karin Diderich, Marieke Joosten, Sam Riedijk, Maarten Knapen, Attie Go, Dimitri Papatsonis, Katja de Graaf, Toon Toolenaar, Sanne van der Steen, Gido Huijbregts, Jeroen Knijnenburg, Femke de Vries, Diane Van Opstal, Robert-Jan Galjaard
BACKGROUND: Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations. METHODS: Fifty seven cases were evaluated: 34 with and 23 without ultrasound anomalies at referral...
December 8, 2016: Prenatal Diagnosis
keyword
keyword
109738
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"