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https://www.readbyqxmd.com/read/29318577/uk-families-with-children-with-rare-chromosome-disorders-changing-experiences-of-diagnosis-and-counseling-2003-to-2013
#1
A Szczepura, S Wynn, B Searle, A J Khan, T Palmer, D Biggerstaff, J Elliott, M A Hultén
The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of two large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a ten year period. Seven stages of the patient journey were examined. From pre-testing, through diagnosis, genetics consultation, clinical follow-up and peer support...
January 10, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#2
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29305833/simple-and-efficient-screening-of-patients-with-fabry-disease-with-high-resolution-melting
#3
Gabriela Pasqualim, Bruna Almeida Dos Santos, Roberto Giugliani, Ursula Matte
BACKGROUND: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which presents great allelic heterogeneity. The development of fast screening methods may reduce costs and length of diagnosis, being particularly important for screening programs of high-risk female patients. Therefore, the purpose of this study was to develop a pre-sequencing genetic screening method based on high resolution melting (HRM) analysis. METHODS: We performed HRM analysis in one hundred and three individuals, 79 females and 24 males, with a total of 27 different variants in 30 different genotypes...
January 3, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29300866/diagnostic-utility-of-molecular-and-imaging-biomarkers-in-cytological-indeterminate-thyroid-nodules
#4
Elizabeth J de Koster, Lioe-Fee de Geus-Oei, Olaf M Dekkers, Ilse van Engen-van Grunsven, Jaap Hamming, Eleonora P M Corssmit, Hans Morreau, Abbey Schepers, Jan Smit, Wim J G Oyen, Dennis Vriens
Indeterminate thyroid cytology (Bethesda III and IV) corresponds to follicular-patterned benign and malignant lesions, which are particularly difficult to differentiate on cytology alone. As approximately 25% of these nodules harbor malignancy, diagnostic hemithyroidectomy is still custom. However, advanced preoperative diagnostics are rapidly evolving.This review provides an overview of additional molecular and imaging diagnostics for indeterminate thyroid nodules in a pre-operative clinical setting, including considerations regarding cost-effectiveness, availability, and feasibility of combining techniques...
January 2, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29286383/visual-detection-of-multiple-nucleic-acids-in-a-capillary-array
#5
Jianwei Chen, Ning Shao, Jiaying Hu, Rong Li, Yuanshou Zhu, Dabing Zhang, Shujuan Guo, Junhou Hui, Peng Liu, Litao Yang, Sheng-Ce Tao
Multi-target, short time, and resource-affordable methodologies for the detection of multiple nucleic acids in a single, easy to operate test are urgently needed in disease diagnosis, microbial monitoring, genetically modified organism (GMO) detection, and forensic analysis. We have previously described the platform called CALM (Capillary Array-based Loop-mediated isothermal amplification for Multiplex visual detection of nucleic acids). Herein, we describe improved fabrication and performance processes for this platform...
November 15, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29279013/novel-approaches-to-diagnosis-and-treatment-of-juvenile-myelomonocytic-leukemia
#6
Franco Locatelli, Mattia Algeri, Pietro Merli, Luisa Strocchio
Juvenile myelomonocytic leukemia (JMML) is a clonal hematopoietic disorder of infancy/early childhood, resulting from oncogenic mutations in genes involved in the Ras pathway. As JMML often exhibits an aggressive course, the timing of diagnosis and treatment is critical to outcome. Areas covered: This review summarizes current approaches to diagnosis and treatment of JMML, highlighting most recent insights into genetic and epigenetic mechanisms underlying the disease, and providing an overview of novel potential therapeutic strategies...
January 3, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29249818/persistence-of-pre-leukemic-clones-during-first-remission-and-risk-of-relapse-in-acute-myeloid-leukemia
#7
M Rothenberg-Thurley, S Amler, D Goerlich, T Köhnke, N P Konstandin, S Schneider, M C Sauerland, T Herold, M Hubmann, B Ksienzyk, E Zellmeier, S K Bohlander, M Subklewe, A Faldum, W Hiddemann, J Braess, K Spiekermann, K H Metzeler
Some patients with acute myeloid leukemia (AML) who are in complete remission after induction chemotherapy harbor persisting pre-leukemic clones, carrying a subset of leukemia-associated somatic mutations. There is conflicting evidence on the prognostic relevance of these clones for AML relapse. Here, we characterized paired pre-treatment and remission samples from 126 AML patients for mutations in 68 leukemia-associated genes. Fifty patients (40%) retained ⩾1 mutation during remission at a variant allele frequency of ⩾2%...
December 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29242947/the-position-of-targeted-next-generation-sequencing-in-epidermo-lysis-bullosa-diagnosis
#8
Cristina Has, Julia Küsel, Antonia Reimer, Julia Hoffmann, Franziska Schauer, Andreas Zimmer, Judith Fischer
The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation diagnosis. We report here the molecular pathology of 40 consecutive cases of suspected EB, which were investigated by immunofluorescence mapping (IFM) and/or by a targeted next-generation sequencing (NGS) multi-gene panel...
December 15, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29241659/a-novel-method-for-predicting-kidney-stone-type-using-ensemble-learning
#9
Yassaman Kazemi, Seyed Abolghasem Mirroshandel
The high morbidity rate associated with kidney stone disease, which is a silent killer, is one of the main concerns in healthcare systems all over the world. Advanced data mining techniques such as classification can help in the early prediction of this disease and reduce its incidence and associated costs. The objective of the present study is to derive a model for the early detection of the type of kidney stone and the most influential parameters with the aim of providing a decision-support system. Information was collected from 936 patients with nephrolithiasis at the kidney center of the Razi Hospital in Rasht from 2012 through 2016...
December 11, 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/29236289/assessment-of-cellular-and-serum-proteome-from-tongue-squamous-cell-carcinoma-patient-lacking-addictive-proclivities-for-tobacco-betel-nut-and-alcohol-case-study
#10
Sapna Khowal, Samar Husain Naqvi, Seema Monga, Swatantra Kumar Jain, Saima Wajid
The intriguing molecular pathways involved in oral carcinogenesis are still ambiguous. The oral squamous cell carcinoma (OSCC) ranks as the most common type constituting more than 90% of the globally diagnosed oral cancers cases. The elevation in the OSCC incidence rate during past ten years has an alarming impression on human healthcare. The major challenges associated with OSCC include delayed diagnosis, high metastatic rates, and low five-year survival rates. The present work foundations on reverse genetic strategy and involves the identification of genes showing expressional variability in an OSCC case lacking addictive proclivities for tobacco, betel nut and/or alcohol, major etiologies...
December 13, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29232625/prenatal-detection-of-trisomy-8-mosaicism-pregnancy-outcome-and-follow-up-of-a-series-of-17-consecutive-cases
#11
Matteo Cassina, Annapaola Calò, Leonardo Salviati, Alberta Alghisi, Annamaria Montaldi, Maurizio Clementi
OBJECTIVE: To study the outcome of a series of individuals with prenatal detection of trisomy 8 mosaicism by chorionic villus sampling (CVS) and/or amniocentesis. STUDY DESIGN: The databases of two Italian genetics units were reviewed to identify all consultations requested during pregnancy because of trisomy 8 mosaicism. To evaluate the pregnancy outcome, the regional registry of congenital malformations (including terminations of pregnancies) was consulted; additional follow-up data were collected by a telephone interview...
December 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29219278/clinical-features-of-carriers-of-reciprocal-chromosomal-translocations-involving-chromosome-2-report-of-nine-cases-and-review-of-the-literature
#12
Xinyue Zhang, Hongguo Zhang, Cong Hu, Ruixue Wang, Qi Xi, Ruizhi Liu
OBJECTIVE: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility...
December 11, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29195628/family-planning-decisions-for-parents-of-children-with-a-rare-genetic-condition-a-scoping-review
#13
REVIEW
Melanie Gee, Hilary Piercy, Katarzyna Machaczek
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the number of conditions for which such decisions have to be made. We conducted a scoping review to explore: (i) reproductive decision-making among parents of children with recessive genetic conditions; and, (ii) the involvement of healthcare services in facilitating and supporting those decisions...
December 2017: Sexual & Reproductive Healthcare: Official Journal of the Swedish Association of Midwives
https://www.readbyqxmd.com/read/29191297/verification-of-heart-disease-implications-for-a-new-heart-transplantation-allocation-system
#14
Pejman Raeisi-Giglou, E Rene Rodriguez, Eugene H Blackstone, Carmela D Tan, Eileen M Hsich
OBJECTIVES: This study sought to determine the accuracy of the pre-transplantation clinical diagnosis of heart disease in the United Network for Organ Sharing (UNOS) database. BACKGROUND: Because survival on the heart transplantation waitlist depends on underlying heart disease, a new allocation system will include the type of heart disease. Accuracy of the pre-transplantation clinical diagnosis and the effect of misclassification are unknown. METHODS: We included all adults who received transplants at our center between January 2009 to December 2015...
December 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/29189158/cancer-targeted-therapy-strategy-the-pathologist-s-perspectives
#15
Lara Alessandrini, Tiziana Perin, Shahin Kadare, Lino Del Pup, Lorenzo Memeo, Agostino Steffan, Lorenzo Colarossi, Massimiliano Berretta, Paolo De Paoli, Vincenzo Canzonieri
The effectiveness of new personalized treatment procedures in oncology is based on the fact that a certain tumor exhibits specific molecular features. More in detail, neoplastic tissues of patients should display a specific biomarker, most often a specific genetic alteration and/or under/overexpression of a definite protein, that could be the target of its respective drug. Immunohistochemical and molecular analyses, which usuallyinclude examination of nucleic acids from either tissues or fluids, are common tests to define the status of a tumor...
November 29, 2017: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/29179439/next-generation-sequencing-identified-novel-heterozygous-nonsense-mutation-in-cngb1-gene-associated-with-retinitis-pigmentosa-in-a-chinese-patient
#16
Santasree Banerjee, Junping Yao, Xinxin Zhang, Jianjun Niu, Zhongshan Chen
Retinitis pigmentosa (RP) is a severe hereditary eye disease characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases. Germline mutations of CNGB1 is associated with retinitis pigmentosa. We have identified and investigated a 34-year-old Chinese man with markedly have night vision blindness and loss of midperipheral visual field. The proband also lose his far peripheral visual field and also central vision...
October 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/29169765/whole-exome-sequencing-allows-the-identification-of-two-novel-groups-of-xeroderma-pigmentosum-in-tunisia-xp-d-and-xp-e-impact-on-molecular-diagnosis
#17
Mariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, Meriem Jones, Yosra Bouyacoub, Majdi Nagara, Tommaso Pippucci, Haifa Jmel, Mariem Chargui, Manel Jerbi, Mohamed Alibi, Hamza Dallali, Anu Bashamboo, Kenneth McElreavey, Giovanni Romeo, Abdelhamid Barakat, Mohamed Zghal, Houda Yacoub-Youssef, Sonia Abdelhak
BACKGROUND: Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome. OBJECTIVES: First, to identify the genetic etiology of XP and to better classify affected patients. Second, to provide early molecular diagnosis for pre-symptomatic patient and finally to offer genetic counseling for related individuals...
November 2, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29169684/airway-morphology-and-inspiratory-flow-features-in-the-early-stages-of-chronic-obstructive-pulmonary-disease
#18
REVIEW
Tristan Van de Moortele, Ute Goerke, Chris H Wendt, Filippo Coletti
BACKGROUND: Chronic Obstructive Pulmonary Disease (COPD) is among the leading causes of death worldwide. Inhaled pollutants are the prime risk factor, but the pathogenesis and progression of the diseased is poorly understood. Most studies on the disease onset and trajectory have focused on genetic and molecular biomarkers. Here we investigate the role of the airway anatomy and the consequent respiratory fluid mechanics on the development of COPD. METHODS: We segmented CT scans from a five-year longitudinal study in three groups of smokers (18 subjects each) having: (i) minimal/mild obstruction at baseline with declining lung function at year five; (ii) minimal/mild obstruction at baseline with stable function, and (iii) normal and stable lung function over the five year period...
November 16, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/29162597/prevalence-and-clinical-profile-of-microcephaly-in-south-america-pre-zika-2005-14-prevalence-and-case-control-study
#19
Iêda M Orioli, Helen Dolk, Jorge S Lopez-Camelo, Daniel Mattos, Fernando A Poletta, Maria G Dutra, Flavia M Carvalho, Eduardo E Castilla
Objective To describe the prevalence and clinical spectrum of microcephaly in South America for the period 2005-14, before the start of the Zika epidemic in 2015, as a baseline for future surveillance as the Zika epidemic spreads and as other infectious causes may emerge in future.Design Prevalence and case-control study.Data sources ECLAMC (Latin American Collaborative Study of Congenital Malformations) database derived from 107 hospitals in 10 South American countries, 2005 to 2014. Data on microcephaly cases, four non-malformed controls per case, and all hospital births (all births for hospital based prevalence, resident within municipality for population based prevalence)...
November 21, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29158581/improved-ethical-guidance-for-the-return-of-results-from-psychiatric-genomics-research
#20
G Lázaro-Muñoz, M S Farrell, J J Crowley, D M Filmyer, R A Shaughnessy, R C Josiassen, P F Sullivan
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results...
November 21, 2017: Molecular Psychiatry
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