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Pre genetic diagnosis

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https://www.readbyqxmd.com/read/29139529/lab-on-capillary-a-rapid-simple-and-quantitative-genetic-analysis-platform-integrating-nucleic-acid-extraction-amplification-and-detection
#1
Yu Fu, Xiaoming Zhou, Da Xing
In this work, we describe for the first time a genetic diagnosis platform employing a polydiallyldimethylammonium chloride (PDDA)-modified capillary and a liquid-based thermalization system for rapid, simple and quantitative DNA analysis with minimal user interaction. Positively charged PDDA is modified on the inner surface of the silicon dioxide capillary by using an electrostatic self-assembly approach that allows the negatively charged DNA to be separated from the lysate in less than 20 seconds. The capillary loaded with the PCR mix is incorporated in the thermalization system, which can achieve on-site real-time PCR...
November 15, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/29136691/-tumors-of-lymphoid-and-hematopoietic-tissue-of-spleen-a-clinicopathologic-analysis-of-53-cases
#2
D B Chen, D H Shen, H Zhang, Y Wang, Q J Song, S M Yang, X Z Fang
Objective: To study the clinicopathologic features, diagnosis and differential diagnosis of the tumors of lymphoidand hematopoietic tissue of the spleen(TLTS). Methods: Fifty-three cases of TLTS were selected from the pathologic files from Peking University People's Hospital from April 2002 to April 2017. According to WHO classification of tumors of hematopoietic and lymphoid tissues (2008) and its updated classification (2016), the cases were studied by microscopy, immunohistochemistry and in situ hybridization, combined with the bone marrow biopsy and clinical examination...
November 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29124982/pre-gestational-thalassemia-screening-in-mainland-china-the-first-two-years-of-a-preventive-program
#3
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29123502/anaplastic-thyroid-cancer-in-sicily-the-role-of-environmental-characteristics
#4
Martina Tavarelli, Pasqualino Malandrino, Paolo Vigneri, Pierina Richiusa, Adele Maniglia, Maria A Violi, Giulia Sapuppo, Veronica Vella, Gabriella Dardanoni, Riccardo Vigneri, Gabriella Pellegriti
Background: Anaplastic thyroid cancer (ATC) is a rare but extremely aggressive cancer of the thyroid, contributing up to 30-40% of thyroid cancer-specific mortality. We analyzed ATC characteristics and survival rates in Sicily to evaluate the possible influence of environmental factors. With this aim, data regarding ATC incidences in urban/rural and industrial, iodine-deficient, and volcanic vs control areas were compared in Sicily as well as ATC data from Sicily and USA. Methods: Using the Sicilian Register of Thyroid Cancer (SRTC) database incidence, age, gender, tumor size and histotype, extrathyroidal extension, stage, and coexistence with pre-existing differentiated thyroid cancer (DTC) were evaluated in different areas of Sicily and also compared with Surveillance Epidemiology and End Results data in USA...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29116175/sniffer-mice-discriminate-urine-odours-of-patients-with-bladder-cancer-a-proof-of-principle-study-for-non-invasive-diagnosis-of-cancer-induced-odours
#5
Takaaki Sato, Yoji Katsuoka, Kimihiko Yoneda, Mitsuo Nonomura, Shinya Uchimoto, Reiko Kobayakawa, Ko Kobayakawa, Yoichi Mizutani
Similar to fingerprints, humans have unique, genetically determined body odours. In case of urine, the odour can change due to variations in diet as well as upon infection or tumour formation. We investigated the use of mice in a manner similar to "sniffer dogs" to detect changes in urine odour in patients with bladder cancer. We measured the odour discrimination thresholds of mice in a Y-maze, using urine mixtures from patients with bladder cancer (Stage I) and healthy volunteers (dietary variations) as well as occult blood- or antibiotic drug metabolite-modulated samples...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29108860/fibrosis-imaging-current-concepts-and-future-directions
#6
Maike Baues, Anshuman Dasgupta, Josef Ehling, Jai Prakash, Peter Boor, Frank Tacke, Fabian Kiessling, Twan Lammers
Fibrosis plays an important role in many different pathologies. It results from tissue injury, chronic inflammation, autoimmune reactions and genetic alterations, and it is characterized by the excessive deposition of extracellular matrix components. Biopsies are routinely employed for fibrosis diagnosis, but they suffer from several drawbacks, including their invasive nature, sampling variability and limited spatial information. To overcome these limitations, multiple different imaging tools and technologies have been evaluated over the years, including x-ray imaging, computed tomography (CT), ultrasound (US), magnetic resonance imaging (MRI), positron emission tomography (PET) and single-photon emission computed tomography (SPECT)...
November 3, 2017: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29108474/molecular-testing-for-oncogenic-gene-alterations-in-pediatric-thyroid-lesions
#7
Sogol Mostoufi-Moab, Emmanuel Labourier, Lisa Sullivan, Virginia A LiVolsi, Yimei Li, Rui Xiao, Sylvie Beaudenon-Huibregtse, Ken Kazahaya, N Scott Adzick, Zubair W Baloch, Andrew J Bauer
BACKGROUND: Thyroid nodules are less common in pediatric patients (≤18 years) than in adults. The Bethesda System for Reporting Thyroid Cytopathology allows for individual risk stratification, but a significant number of nodules are indeterminate. Incorporating gene mutation panels and gene expression classifiers may aid in pre-operative diagnosis. The overall aim of this study was to assess the prevalence of oncogene alterations in a representative pediatric population and across a broad-spectrum of thyroid tumor diagnoses...
November 6, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29081015/dealing-with-treatment-and-transfer-requests-how-pgd-professionals-discuss-ethical-challenges-arising-in-everyday-practice
#8
Melisa Soto-Lafontaine, Wybo Dondorp, Veerle Provoost, Guido de Wert
How do professionals working in pre-implantation genetic diagnosis (PGD) reflect upon their decision making with regard to ethical challenges arising in everyday practice? Two focus group discussions were held with staff of reproductive genetic clinics: one in Utrecht (The Netherlands) with PGD-professionals from Dutch PGD-centres and one in Prague (Czech Republic) with PGD-professionals working in centres in different European countries. Both meetings consisted of two parts, exploring participants' views regarding (1) treatment requests for conditions that may not fulfill traditional indications criteria for PGD, and (2) treatment and transfer requests involving welfare-of-the-child considerations...
October 28, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/29080968/sex-selection-for-non-medical-indications-a-survey-of-current-pre-implantation-genetic-screening-practices-among-u-s-art-clinics
#9
Sarah M Capelouto, Sydney R Archer, Jerrine R Morris, Jennifer F Kawwass, Heather S Hipp
PURPOSE: This study aimed to determine the current percentage of United States (U.S.) assisted reproductive technology (ART) clinics offering sex selection via pre-implantation genetic screening (PGS) for non-medical purposes. METHODS: The authors conducted website review and telephone interview survey of 493 U.S. ART clinics performing in vitro fertilization (IVF) in 2017. Main outcome measures were pre-implantation genetic screening (PGS)/pre-implantation genetic diagnosis (PGD) practices and non-medical sex selection practices including family balancing...
October 28, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29079548/a-next-generation-sequencing-custom-gene-panel-as-first-line-diagnostic-tool-for-atypical-cases-of-syndromic-obesity-application-in-a-case-of-alstr%C3%A3-m-syndrome
#10
Paolo E Maltese, Giancarlo Iarossi, Lucia Ziccardi, Leonardo Colombo, Luca Buzzonetti, Crino' Antonino, Silvia Tezzele, Matteo Bertelli
Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29078974/-two-is-not-enough-impact-of-the-number-of-tissue-samples-obtained-from-stereotactic-brain-biopsies-in-suspected-glioblastoma
#11
Johanna Quick-Weller, Julia Tichy, Patrick N Harter, Stephanie Tritt, Peter Baumgarten, Oliver Bähr, Nazife Dinc, Bedjan Behmanesh, Lutz Weise, Volker Seifert, Gerhard Marquardt
OBJECTIVE: Stereotactic procedures are performed in many neurosurgical departments in order to obtain tumor tissue from brain lesions for histopathological evaluation. Biopsies can be performed frame-guided and frame less. Some departments use a biopsy needle (cylinder probe), others a forceps for repetitive smaller tissue samples. Although the applied techniques are somehow different, it is still unclear how many tissue samples have to be taken to establish reliably a final diagnosis based on histopathological and genetic examinations...
October 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29077208/clinical-efficacy-of-a-next-generation-sequencing-gene-panel-for-primary-immunodeficiency-diagnostics
#12
W Rae, D Ward, C Mattocks, R J Pengelly, E Eren, S V Patel, S N Faust, D Hunt, A P Williams
Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result in impairment of functions of the human immune system. PIDs have a broad phenotype with increased morbidity and mortality and treatment choices are often complex. With increased accessibility of next-generation sequencing the rate of discovery of genetic causes for PID has increased exponentially. Identification of an underlying monogenic diagnosis provides important clinical benefits for patients with the potential to alter treatments, facilitate genetic counselling, and pre-implantation diagnostics...
October 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29063046/circulating-free-dna-in-the-era-of-precision-oncology-pre-and-post-analytical-concerns
#13
REVIEW
Jun-Liang Lu, Zhi-Yong Liang
Cancer treatment has entered the era of precision medicine, where knowledge of a patient's genetic profile is used to facilitate early diagnosis, drug selection, prognosis, prediction of drug responsiveness, the onset of secondary resistance, and relapse. Circulating free DNA (cfDNA) has emerged as an ideal source of genetic information for cancer patients, and numerous studies have explored its validity in various clinical applications. However, clinical implementation of cfDNA-based tests has been slow. In this review, we addressed some of the pre- and post-analytical issues regarding cfDNA tests...
December 2016: Chronic Dis Transl Med
https://www.readbyqxmd.com/read/29054758/cystic-fibrosis-transmembrane-regulator-haplotypes-in-households-of-patients-with-cystic-fibrosis
#14
Daniela Tenório Furgeri, Fernando Augusto Lima Marson, Cyntia Arivabeni Araújo Correia, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo
INTRODUCTION: Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. The F508del mutation occurs in approximately 50-65% of patients with cystic fibrosis (CF). However, molecular diagnosis is not always possible. Therefore, silent polymorphisms can be used to label the mutant allele in households of patients with CF. OBJECTIVE: To verify the haplotypes of four polymorphisms at the CFTR locus in households of patients with CF for pre-fertilization, pre-implantation, and prenatal indirect mutation diagnosis to provide better genetic counseling for families and patients with CF and to associate the genotypes/haplotypes with the F508del mutation screening...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#15
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros, Paula Freitas
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic...
October 19, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29050983/precision-diagnosis-and-treatment-of-liver-cancer-in-china
#16
Jing Fu, Hongyang Wang
Liver cancer ranks the sixth in cancer incidence and the second in tumor related mortality worldwide, with over half of the new cases and deaths occur in China. Because of difficulties in early diagnosis, rapid progression and lack of targeted drugs, the survival rate of liver cancer is extremely low. The existence of extraordinary heterogeneity has greatly limited the progress in early detection, molecular classification and targeted therapy of live cancer, owing to its varied risk factors, genetic susceptibilities, morphological diversity and microenvironmental discrepancies...
October 16, 2017: Cancer Letters
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#17
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28992369/predictive-value-of-pre-operative-inflammation-based-prognostic-scores-neutrophil-to-lymphocyte-ratio-platelet-to-lymphocyte-ratio-and-monocyte-to-eosinophil-ratio-in-testicular-sperm-extraction-a-pilot-study
#18
C Yucel, M Z Keskin, O Cakmak, B Ergani, C Kose, O Celik, E Islamoglu, M Ucar, G Koc, Z Kozacioglu
To investigate the ability of some hematologic prognostic scores demonstrating inflammation in predicting sperm presence in testicular sperm extraction (TESE). We retrospectively investigated the medical data of 430 patients with the diagnosis of non-obstruc tive azoospermia (NOA) who had undergone TESE operation consecutively in our institution between the dates of January 2009 and February 2017. In all, 352 patients with the diagnosis of NOA, with bilaterally palpable vas deferens, who had undergone TESE for the first time, were included in the study...
October 9, 2017: Andrology
https://www.readbyqxmd.com/read/28981942/-value-of-pre-gestational-deafness-related-mutation-screening-for-the-prevention-and-intervention-of-congenital-deafness
#19
Xuejing Sun, Xinli Xing, Qingqing He, Lin Zhou, Jing Zhang, Qing Zhao, Huili Hou, Zuoming Xi
OBJECTIVE: To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. METHODS: In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#20
REVIEW
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc...
October 2, 2017: Indian Journal of Pediatrics
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