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https://www.readbyqxmd.com/read/27888866/hereditary-forms-of-colorectal-cancer
#1
Antoni Castells
Colorectal cancer is one of the most frequent neoplasms in western countries; it is the third most common cancer in men after prostate and lung cancer and the second most common in women after breast cancer. Colorectal cancer is usually sporadic but in a small proportion is hereditary. The genetic cause is well established, allowing pre-symptomatic diagnosis in at-risk relatives. The present article reviews the most novel findings presented at the latest meeting of the American Gastroenterological Association on hereditary forms of colorectal cancer, especially Lynch syndrome and MUTYH-associated polyposis, as well as diverse organisational aspects that can favour the correct management of these patients and their relatives...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27869167/cystine-addiction-of-triple-negative-breast-cancer-associated-with-emt-augmented-death-signaling
#2
X Tang, C-K Ding, J Wu, J Sjol, S Wardell, I Spasojevic, D George, D P McDonnell, D S Hsu, J T Chang, J-T Chi
Despite the advances in the diagnosis and treatment of breast cancer, breast cancers still cause significant mortality. For some patients, especially those with triple-negative breast cancer, current treatments continue to be limited and ineffective. Therefore, there remains an unmet need for a novel therapeutic approach. One potential strategy is to target the altered metabolic state that is rewired by oncogenic transformation. Specifically, this rewiring may render certain outside nutrients indispensable...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27856159/pre-implantation-genetic-diagnosis
#3
REVIEW
Joanne Traeger-Synodinos
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment. PGD is a multi-step procedure that requires close collaboration between gynaecologists who are experts in assisted reproduction, embryologists who are experts in micromanipulation of germ cells and in embryo biopsy and geneticists who are experts in genetic analysis at the single-cell level...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27852057/novel-mutations-c-28g-t-p-ala10ser-and-c-189g-t-p-glu63asp-in-wdr62-associated-with-early-onset-acanthosis-and-hyperkeratosis-in-a-patient-with-autosomal-recessive-microcephaly-type-2
#4
Santasree Banerjee, Huishuang Chen, Hui Huang, Jing Wu, Zhiyun Yang, Weiping Deng, Dongna Chen, Jianlian Deng, Yan Su, Yang Li, Chao Wu, Ye Wang, Hao Zeng, Yiming Wang, Xunhua Li
Microcephaly (MCPH) is a developmental disorder characterized by reduced brain size and intellectual disability. A proportion of microcephaly is caused by defects in a single gene. Microcephaly 2 (MCPH2) is one of the most frequent subtypes of MCPH.WD repeat-containing protein 62 gene (WDR62) is the most frequently mutated gene in MCPH2 patients. Phenotypes involving dermatological changes in MCPH2 have not been reported. We have identified and investigated a 5-year-old Chinese girl with markedly reduced brain size (86% of normal size), intellectual disability and psychomotor developmental delay...
November 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27847257/new-trend-in-the-epidemiology-of-thalassaemia
#5
REVIEW
Chi-Kong Li
Thalassaemia is the most common monogenic disorder worldwide. It is common in areas with prevalent malaria as thalassaemic red cells provide immunity against the parasite. The incidence of thalassaemia carriers is high in regions such as Mediterranean, Middle East, Indian subcontinent, Southeast Asia and South China. In the past few decades, migrants from the thalassaemia prevalent countries to non-prevalent countries, mainly North America and Central and North Europe, are rapidly increasing in number. The non-prevalent countries may not have established pre-natal screening system for thalassaemia...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27837434/prediction-of-genetic-subgroups-in-adult-supra-tentorial-gliomas-by-pre-and-intraoperative-parameters
#6
Shunsuke Nakae, Kazuhiro Murayama, Hikaru Sasaki, Masanobu Kumon, Yuya Nishiyama, Shigeo Ohba, Kazuhide Adachi, Shinya Nagahisa, Takuro Hayashi, Joji Inamasu, Masato Abe, Mitsuhiro Hasegawa, Yuichi Hirose
Recent progress in neuro-oncology has validated the significance of genetic diagnosis in gliomas. We previously investigated IDH1/2 and TP53 mutations via Sanger sequencing for adult supratentorial gliomas and reported that PCR-based sequence analysis classified gliomas into three genetic subgroups that have a strong association with patient prognosis: IDH mutant gliomas without TP53 mutations, IDH and TP53 mutant gliomas, and IDH wild-type gliomas. Furthermore, this analysis had a strong association with patient prognosis...
November 11, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27837218/detailed-molecular-characterization-of-a-novel-ids-exonic-mutation-associated-with-multiple-pseudoexon-activation
#7
L Grodecká, T Kováčová, M Kramárek, S Seneca, K Stouffs, C De Laet, F Majer, T Kršjaková, P Hujová, K Hrnčířová, P Souček, W Lissens, E Buratti, Tomas Freiberger
: Mutations affecting splicing underlie the development of many human genetic diseases, but rather rarely through mechanisms of pseudoexon activation. Here, we describe a novel c.1092T>A mutation in the iduronate-2-sulfatase (IDS) gene detected in a patient with significantly decreased IDS activity and a clinical diagnosis of mild mucopolysaccharidosis II form. The mutation created an exonic de novo acceptor splice site and resulted in a complex splicing pattern with multiple pseudoexon activation in the patient's fibroblasts...
November 12, 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27834776/genetic-risk-as-a-marker-of-amyloid-%C3%AE-and-tau-burden-in-cerebrospinal-fluid
#8
Nicola Voyle, Hamel Patel, Amos Folarin, Stephen Newhouse, Caroline Johnston, Pieter Jelle Visser, Richard J B Dobson, Steven J Kiddle
BACKGROUND: The search for a biomarker of Alzheimer's disease (AD) pathology (amyloid-β (Aβ) and tau) is ongoing, with the best markers currently being measurements of Aβ and tau in cerebrospinal fluid (CSF) and via positron emission tomography (PET) scanning. These methods are relatively invasive, costly, and often have high screening failure rates. Consequently, research is aiming to elucidate blood biomarkers of Aβ and tau. OBJECTIVE: This study aims to investigate a case/control polygenic risk score (PGRS) as a marker of tau and investigate blood markers of a combined Aβ and tau outcome for the first time...
November 6, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27822431/development-implementation-and-assessment-of-a-genetics-curriculum-across-institutions
#9
Sarah Dotters-Katz, Ginger Hocutt, C Michael Osborne, Emily E Hardisty, Laurie Demmer, Neeta Vora
Objective Many residency programs offer limited exposure and minimal didactic time genetics, despite its frequent use in obstetrics and gynecology. The objective of this study was to develop, pilot, and assess a three-module women's health genetics curriculum for residents that was easily transferable between institutions. Methods An interactive three-module genetics curriculum covering basic principles, prenatal screening/diagnosis, and cancer genetics was developed. A pre- and posttests were used to assess improvement in knowledge...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27808383/genetic-diversity-of-standard-leaf-nutrients-in-coffea-canephora-genotypes-during-phenological-phases
#10
W R Gomes, W P Rodrigues, H D Vieira, M G Oliveira, J R M Dias, F L Partelli
Diagnosing foliar nutritional status is essential for fertilizer recommendations and for the identification of nutrient imbalances. This study aimed to verify genetic diversity and establish mean standards (leaf nutrient contents; LNCs) and relationships among leaf nutrients (LNC relationships; LNCRs) in seven conilon coffee genotypes during both pre-flowering and bean-filling stages. Twenty crops from several cities in the northern region of Espírito Santo State, Brazil, with crop yield either equal to or greater than 100 bags per hectare (during two harvests) were assessed...
October 6, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27806720/kawasaki-disease-in-sicily-clinical-description-and-markers-of-disease-severity
#11
Maria Cristina Maggio, Giovanni Corsello, Eugenia Prinzi, Rolando Cimaz
BACKGROUND: Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. METHODS: We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks, and at 1 year after the onset of the illness...
November 2, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27806707/is-the-time-ripe-for-new-diagnostic-criteria-of-cognitive-impairment-due-to-cerebrovascular-disease-consensus-report-of-the-international-congress-on-vascular-dementia-working-group
#12
EDITORIAL
Robert Perneczky, Oren Tene, Johannes Attems, Panteleimon Giannakopoulos, M Arfan Ikram, Antonio Federico, Marie Sarazin, Lefkos T Middleton
BACKGROUND: Long before Alzheimer's disease was established as the leading cause of dementia in old age, cerebrovascular lesions were known to cause cognitive deterioration and associated disability. Since the middle of the last century, different diagnostic concepts for vascular dementia and related syndromes were put forward, yet no widely accepted diagnostic consensus exists to date. DISCUSSION: Several international efforts, reviewed herein, are ongoing to define cognitive impairment due to cerebrovascular disease in its different stages and subtypes...
November 3, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#13
Sabit Sarikaya, Ebuzer Aydin, Yucel Ozen, Tanil Ozer, Kaan Kirali, Murat Bulent Rabus
AIM: We undertook genetic assessment of coronary artery disease (CAD) in 20 patients aged 30 years or less undergoing coronary artery bypass grafting (CABG) surgery, to investigate the prognostic value of pre-defined genes. METHODS: Twenty patients, who underwent CABG surgery between December 2001 and May 2013, were retrospectively analysed to find out the role their genetic make-up played in their disease. We used three genetic diagnostic tests, the plasminogen activator inhibitor (PAI) -1 gene, the A1/A2 polymorphism of glycoprotein IIIa (GpIIIa) gene, and common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene...
October 21, 2016: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/27798002/-omics-biomarkers-associated-with-chronic-low-back-pain-protocol-of-a-retrospective-longitudinal-study
#14
Massimo Allegri, Manuela De Gregori, Cristina E Minella, Catherine Klersy, Wei Wang, Moira Sim, Christian Gieger, Judith Manz, Iain K Pemberton, Jane MacDougall, Frances Mk Williams, Jan Van Zundert, Klaas Buyse, Gordan Lauc, Ivan Gudelj, Dragan Primorac, Andrea Skelin, Yurii S Aulchenko, Lennart C Karssen, Leonardo Kapural, Richard Rauck, Guido Fanelli
INTRODUCTION: Chronic low back pain (CLBP) produces considerable direct costs as well as indirect burdens for society, industry and health systems. CLBP is characterised by heterogeneity, inclusion of several pain syndromes, different underlying molecular pathologies and interaction with psychosocial factors that leads to a range of clinical manifestations. There is still much to understand in the underlying pathological processes and the non-psychosocial factors which account for differences in outcomes...
October 19, 2016: BMJ Open
https://www.readbyqxmd.com/read/27796017/-molecular-diagnosis-of-adpkd
#15
Francesco Scolari, Gianfranco Savoldi, Cinzia Mazza, Claudia Izzi
Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identified by Sanger, multiplex ligation-dependent probe amplification analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion). The next generation sequencing (NGS) techniques can provide high-throughput and comprehensive diagnostic screening at lower cost. Finally, in the future, targeted (TS) or whole exome sequencing (WES) will likely play a role in the molecular diagnostics of ADPKD...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27795984/pulmonary-predictors-of-incident-diabetes-in-smokers
#16
Gregory L Kinney, Emma H Baker, Oana L Klein, Jennifer L Black-Shinn, Emily S Wan, Barry Make, Elizabeth Regan, Russell P Bowler, Sharon M Lutz, Kendra A Young, Lindsey M Duca, George R Washko, Edwin K Silverman, James D Crapo, John E Hokanson
BACKGROUND: Diabetes mellitus and its complications are a large and increasing burden for health care worldwide. Reduced pulmonary function has been observed in diabetes (both type 1 and type 2), and this reduction is thought to occur prior to diagnosis. Other measures of pulmonary health are associated with diabetes, including lower exercise tolerance, greater dyspnea, lower quality of life (as measured by the St. George's Respiratory Questionaire [SGRQ]) and susceptibility to lung infection and these measures may also predate diabetes diagnosis...
2016: Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation
https://www.readbyqxmd.com/read/27786563/non-invasive-pre-implantation-aneuploidy-screening-and-diagnosis-of-beta-thalassemia-ivsii654-mutation-using-spent-embryo-culture-medium
#17
WeiQiang Liu, JianQiao Liu, HongZi Du, JiaWei Ling, XiaoFang Sun, DunJin Chen
BACKGROUND: Cell-free nuclear DNA has been isolated from spent embryo culture medium. Whether this small amount of DNA can be amplified at the whole genome level and the concordance rate of karyotypes and specific alleles between biopsied cells and media has not been evaluated. METHODS: Seven couples were recruited, 88 donated embryos and their corresponding media were collected for whole genome amplification (WGA). The efficiency of WGA, the concordance of chromosome status and the HBB gene IVSII654 allele between biopsied cells and media were investigated...
October 27, 2016: Annals of Medicine
https://www.readbyqxmd.com/read/27777120/a-homozygous-intronic-branch-point-deletion-in-the-alpl-gene-causes-infantile-hypophosphatasia
#18
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase, caused by loss-of-function mutations within the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP. Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation...
January 2017: Bone
https://www.readbyqxmd.com/read/27775596/arrhythmia-classification-based-on-multi-domain-feature-extraction-for-an-ecg-recognition-system
#19
Hongqiang Li, Danyang Yuan, Youxi Wang, Dianyin Cui, Lu Cao
Automatic recognition of arrhythmias is particularly important in the diagnosis of heart diseases. This study presents an electrocardiogram (ECG) recognition system based on multi-domain feature extraction to classify ECG beats. An improved wavelet threshold method for ECG signal pre-processing is applied to remove noise interference. A novel multi-domain feature extraction method is proposed; this method employs kernel-independent component analysis in nonlinear feature extraction and uses discrete wavelet transform to extract frequency domain features...
October 20, 2016: Sensors
https://www.readbyqxmd.com/read/27769855/acute-intermittent-porphyria-in-children-a-case-report-and-review-of-the-literature
#20
Manisha Balwani, Preeti Singh, Anju Seth, Ekta Malik Debnath, Hetanshi Naik, Dana Doheny, Brenden Chen, Makiko Yasuda, Robert J Desnick
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are commonly seen and may precede the diagnosis of AIP. As an example, we report a 9year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy...
October 15, 2016: Molecular Genetics and Metabolism
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