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Laboratory genetics

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https://www.readbyqxmd.com/read/28931004/the-logic-of-the-floral-transition-reverse-engineering-the-switch-controlling-the-identity-of-lateral-organs
#1
Jean-Louis Dinh, Etienne Farcot, Charlie Hodgman
Much laboratory work has been carried out to determine the gene regulatory network (GRN) that results in plant cells becoming flowers instead of leaves. However, this also involves the spatial distribution of different cell types, and poses the question of whether alternative networks could produce the same set of observed results. This issue has been addressed here through a survey of the published intercellular distribution of expressed regulatory genes and techniques both developed and applied to Boolean network models...
September 20, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28930183/substituting-sodium-hydrosulfite-with-sodium-metabisulfite-improves-long-term-stability-of-a-distributable-paper-based-test-kit-for-point-of-care-screening-for-sickle-cell-anemia
#2
Kian Torabian, Dalia Lezzar, Nathaniel Z Piety, Alex George, Sergey S Shevkoplyas
Sickle cell anemia (SCA) is a genetic blood disorder that is particularly lethal in early childhood. Universal newborn screening programs and subsequent early treatment are known to drastically reduce under-five SCA mortality. However, in resource-limited settings, cost and infrastructure constraints limit the effectiveness of laboratory-based SCA screening programs. To address this limitation our laboratory previously developed a low-cost, equipment-free, point-of-care, paper-based SCA test. Here, we improved the stability and performance of the test by replacing sodium hydrosulfite (HS), a key reducing agent in the hemoglobin solubility buffer which is not stable in aqueous solutions, with sodium metabisulfite (MS)...
September 20, 2017: Biosensors
https://www.readbyqxmd.com/read/28929960/-antimicrobial-susceptibilities-and-molecular-characterization-of-toxin-positive-clostridium-difficile-isolates-the-first-report-on-the-presence-of-hypervirulent-strains-from-turkey
#3
Emrah Salman, Belkıs Levent, Zeynep Ceren Karahan
Clostridium difficile infection is one of the most important hospital-acquired infections. Infections caused by hypervirulent C.difficile strains which produce toxins at high levels, have higher morbidity and mortality rates, more complications and relapses. They are characterized by higher sporulation ratios and resistance rates for fluoroquinolones. In order to prevent serious morbidities, mortalities and remarkable increase in health costs, highly pathogenic C.difficile strains must be identified before causing severe outbreaks...
July 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#4
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#5
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
September 20, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28928829/braf-v600e-mutation-contributes-papillary-thyroid-carcinoma-and-hashimoto-thyroiditis-with-resistance-to-thyroid-hormone-a-case-report-and-literature-review
#6
Wanjia Xing, Xiaohong Liu, Qingqing He, Zongjing Zhang, Zhaoshun Jiang
Resistance to thyroid hormone (RTH) is a rare autosomal hereditary disorder characterized by increased serum thyroid hormone (TH) levels with unsuppressed or increased thyrotropin concentration. It remains unknown whether the coexistence of RTH with papillary thyroid carcinoma (PTC) and Hashimoto thyroiditis (HT) is incidental or whether it possesses a genetic or pathophysiological association. In the present study, a case of RTH with PTC and HT in an 11-year-old Chinese patient was examined and the clinical presentation of RTH with PTC was discussed...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926000/the-bdnf-val66met-polymorphism-regulates-glucocorticoid-induced-corticohippocampal-remodeling-and-behavioral-despair
#7
M Notaras, X Du, J Gogos, M van den Buuse, R A Hill
The BDNF Val66Met polymorphism has been associated with sensitivity to stress and affective disorders. We therefore sought to model the inter-causality of these relationships under controlled laboratory conditions. We subjected humanized BDNF Val66Met (hBDNF(Val66Met)) transgenic mice to a history of stress, modeled by chronic late-adolescent corticosterone (CORT) exposure, before evaluating affective-related behavior using the forced-swim test (FST) in adulthood. While hBDNF(Met/Met) mice had a depression-like phenotype in the FST irrespective of CORT, hBDNF(Val/Val) wildtype mice had a resilient phenotype but developed an equally robust depressive-like phenotype following CORT...
September 19, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28923290/use-of-adult-sensory-panel-to-study-individual-differences-in-the-palatability-of-a-pediatric-hiv-treatment-drug
#8
Julie A Mennella, Phoebe S Mathew, Elizabeth D Lowenthal
PURPOSE: The recommended first-line treatment for young children infected with HIV includes the liquid formulation of the co-formulated protease inhibitors lopinavir/ritonavir (Kaletra(®) [Abbott Laboratories, Chicago, Illinois]). Clinical reports indicate that some children readily accept the taste of Kaletra, whereas others strongly reject it, which can deter therapeutic adherence and outcomes. METHODS: As a proof-of-concept approach, a sensory panel of genotyped adults was used to document the range of individual differences in the taste and palatability (hedonics) of the liquid formulation of Kaletra and other taste stimuli, including common excipients...
September 15, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28923286/abnormally-fertilized-oocytes-can-result-in-healthy-live-births-improved-genetic-technologies-for-preimplantation-genetic-testing-can-be-used-to-rescue-viable-embryos-in-in-vitro-fertilization-cycles
#9
Antonio Capalbo, Nathan Treff, Danilo Cimadomo, Xin Tao, Susanna Ferrero, Alberto Vaiarelli, Silvia Colamaria, Roberta Maggiulli, Giovanna Orlando, Catello Scarica, Richard Scott, Filippo Maria Ubaldi, Laura Rienzi
OBJECTIVE: To test whether abnormally fertilized oocyte (AFO)-derived blastocysts are diploid and can be rescued for clinical use. DESIGN: Longitudinal-cohort study from January 2015 to September 2016 involving IVF cycles with preimplantation genetic testing for aneuploidy (PGT-A). Ploidy assessment was incorporated whenever a blastocyst from a monopronuclear (1PN) or tripronuclear zygote (2PN + 1 smaller PN; 2.1 PN) was obtained. SETTING: Private IVF clinics and genetics laboratories...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28922317/medical-genetic-services-in-a-developing-country-lesson-from-thailand
#10
Chanin Limwongse
PURPOSE OF REVIEW: To give an example of how advances in medical genetics impact a developing country and how Thailand struggle to improve medical genetics services. RECENT FINDINGS: Thailand is an example of developing country with limited resources, low geneticist to population ratio, formally decentralized even though practically centralized healthcare system and growing public interest in medical genetic technology. Nonetheless, efforts have been and still being made in regard to expanding clinical genetics services, improving access to laboratory diagnosis, increasing rare disease medication in national formulary, and training of medical genetics personnel...
September 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28922052/applications-of-emerging-transmission-electron-microscopy-technology-in-pcd-research-and-diagnosis
#11
Amelia Shoemark
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Since the first description of PCD in 1976, assessment of ciliary ultrastructure by transmission electron microscopy (TEM) has been central to diagnosis and research...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28920177/molecular-detection-of-crimean-congo-hemorrhagic-fever-virus-in-ticks-greece-2012-2014
#12
Anna Papa, Anastasia Kontana, Katerina Tsioka, Ilias Chaligiannis, Smaragda Sotiraki
Crimean-Congo hemorrhagic fever virus (CCHFV) is transmitted to humans mainly through the bite of infected ticks. In Greece, only one clinical case has been observed, in 2008, but the seroprevalence in humans is relatively high (4.2%). To have a first insight into the circulation of CCHFV in Greece, 2000 ticks collected from livestock during 2012-2014 were tested. CCHFV was detected in 36 of the 1290 (2.8%) tick pools (1-5 ticks per pool). Two genetic lineages were identified: Europe 1 and Europe 2. Most Europe 1 sequences were obtained from Rhipicephalus sanguineus sensu lato ticks, while most Europe 2 sequences were recovered from Rhipicephalus bursa ticks...
September 17, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28919504/cryptic-elevational-zonation-in-trapdoor-spiders-araneae-antrodiaetidae-aliatypus-janus-complex-from-the-california-southern-sierra-nevada
#13
James Starrett, Cheryl Y Hayashi, Shahan Derkarabetian, Marshal Hedin
The relative roles of ecological niche conservatism versus niche divergence in promoting montane speciation remains an important topic in biogeography. Here, our aim was to test whether lineage diversification in a species complex of trapdoor spiders corresponds with riverine barriers or with an ecological gradient associated with elevational tiering. Aliatypus janus was sampled from throughout its range, with emphasis on populations in the southern Sierra Nevada Mountains of California. We collected multi-locus genetic data to generate a species tree for A...
September 15, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28919271/-autoimmune-hepatitis-immunological-diagnosis
#14
Imane Brahim, Ikram Brahim, Raja Hazime, Brahim Admou
Autoimmune hepatopathies (AIHT) including autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC) and autoimmune cholangitis (AIC), represent an impressive entities in clinical practice. Their pathogenesis is not perfectly elucidated. Several factors are involved in the initiation of hepatic autoimmune and inflammatory phenomena such as genetic predisposition, molecular mimicry and/or abnormalities of T-regulatory lymphocytes. AIHT have a wide spectrum of presentation, ranging from asymptomatic forms to severe acute liver failure...
September 14, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28918882/genome-wide-associations-related-to-hepatic-histology-in-nonalcoholic-fatty-liver-disease-in-hispanic-boys
#15
Julia Wattacheril, Joel E Lavine, Naga P Chalasani, Xiuqing Guo, Soonil Kwon, Jeffrey Schwimmer, Jean P Molleston, Rohit Loomba, Elizabeth M Brunt, Yii-Der Ida Chen, Mark O Goodarzi, Kent D Taylor, Katherine P Yates, James Tonascia, Jerome I Rotter
OBJECTIVE: To identify genetic loci associated with features of histologic severity of nonalcoholic fatty liver disease in a cohort of Hispanic boys. STUDY DESIGN: There were 234 eligible Hispanic boys age 2-17 years with clinical, laboratory, and histologic data enrolled in the Nonalcoholic Steatohepatitis Clinical Research Network included in the analysis of 624 297 single nucleotide polymorphisms (SNPs). After the elimination of 4 outliers and 22 boys with cryptic relatedness, association analyses were performed on 208 DNA samples with corresponding liver histology...
September 14, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28918434/improved-dna-purification-with-quality-assurance-for-evaluation-of-the-microbial-genetic-content-of-constructed-wetlands
#16
Wenda Huang, Jingjing Guo, Ran Tao, Ying Man, Yunv Dai, Yang Yang
Efficient isolation of target DNA is a crucial first step of DNA-based metagenomic analyses of environmental samples. Insufficient quantity and purity of DNA isolated using commercial kits result in missing genetic information, especially for large-diameter substrates in constructed wetlands (CWs). Here, we addressed this problem by devising a cost-effective calcium chloride lysozyme-sodium dodecyl sulfate (SDS) method (CCLS), with key improvements in the steps of humic acid removal and cell lysis. The buffer comprising Tris, EDTA, Na2O2P7 and PVPP (TENP), and skim milk, could reduce adsorption between microorganisms and substrates, and calcium chloride precipitated and removed over 94% of humic acid...
September 16, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28918154/hot-topic-geographical-distribution-and-strain-diversity-of-lactobacillus-wasatchensis-isolated-from-cheese-with-unwanted-gas-formation
#17
Michele Culumber, Donald J McMahon, Fatih Ortakci, Lauren Montierth, Beatriz Villalba, Jeffery R Broadbent, Craig J Oberg
Lactobacillus wasatchensis, an obligate heterofermentative nonstarter lactic acid bacteria (NSLAB) implicated in causing gas defects in aged cheeses, was originally isolated from an aged Cheddar produced in Logan, Utah. To determine the geographical distribution of this organism, we isolated slow-growing NSLAB from cheeses collected in different regions of the United States, Australia, New Zealand, and Ireland. Seven of the cheeses showed significant gas defects and 12 did not. Nonstarter lactic acid bacteria were isolated from these cheeses on de Man, Rogosa, and Sharpe medium supplemented with ribose, a preferred substrate for Lb...
September 13, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28917266/urinary-biomarkers-in-prostate-cancer-detection-and-monitoring-progression
#18
REVIEW
Duojia Wu, Jie Ni, Julia Beretov, Paul Cozzi, Mark Willcox, Valerie Wasinger, Bradley Walsh, Peter Graham, Yong Li
Prostate cancer (CaP) is the most common cancer in men and the second leading cause of cancer deaths in males in Australia. Although serum prostate-specific antigen (PSA) has been the most widely used biomarker in CaP detection for decades, PSA screening has limitations such as low specificity and potential association with over-diagnosis. Current biomarkers used in the clinic are not useful for the early detection of CaP, or monitoring its progression, and have limited value in predicting response to treatment...
October 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#19
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28916186/clinical-immunological-and-genetic-spectrum-of-696-patients-with-combined-immunode%C3%AF-ciency
#20
Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig Platt, Mahmood Tavassoli, Toba Momen, Marzieh Tavakol, Mohammad Hossein Eslamian, Mohammad Gharagozlou, Masoud Movahedi, Mohsen Ghadami, Amir Ali Hamidieh, Gholamreza Azizi, Reza Yazdani, Mohsen Afarideh, Alireza Ghajar, Arash Havaei, Zahra Chavoushzadeh, Seyed Alireza Mahdaviani, Taher Cheraghi, Nasrin Behniafard, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Najmeddin Kalantari, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Abbas Dabbaghzadeh, Afshin Shirkani, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Javad Tafaroji, Abbas Khalili, Javad Mohammadi, Babak Negahdari, Mohammad-Taghi Joghataei, Basel K Al-Ramadi, Capucine Picard, Nima Parvaneh, Nima Rezaei, Talal Chatila, Michel J Massaad, Sevgi Keles, Lennart Hammarström, Raif S Geha, Asghar Aghamohammadi
BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of CID patients in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and non-syndromic CIDs (352 patients)...
September 12, 2017: Journal of Allergy and Clinical Immunology
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