keyword
MENU ▼
Read by QxMD icon Read
search

carrier test

keyword
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#1
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29165831/external-validation-of-the-ita-li-ca-prognostic-system-for-patients-with-hepatocellular-carcinoma-a-multicenter-cohort-study-hep-17-0903
#2
Mauro Borzio, Elena Dionigi, Angelo Rossini, Massimo Marignani, Rodolfo Sacco, Ilario De Sio, Emanuela Bertolini, Giampiero Francica, Anna Giacomin, Giancarlo Parisi, Susanna Vicari, Anna Toldi, Andrea Salmi, Sergio Boccia, Mario Mitra, Fabio Fornari
Several staging systems for HCC have been developed. BCLC is considered the best in predicting survival, although limitations have emerged. Recently the Italian-Liver-Cancer (ITA.LI.CA) prognostic system, integrating the ITA.LI.CA tumor-staging (stages 0, A, B1-3; C) with Child-Pugh score, ECOG-PST, and AFP with a strong ability to predict survival was proposed. Aim of our study was to provide an external validation of the ITA.LI.CA system in an independent real-life occidental cohort of HCCs. METHODS: From September 2008 to April 2016, 1508 cirrhotics with incident HCC were consecutively enrolled in 27 Italian institutions (EpaHCC multi-institutional cohort)...
November 22, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29165384/solid-lipid-nanoparticles-of-albendazole-for-enhancing-cellular-uptake-and-cytotoxicity-against-u-87-mg-glioma-cell-lines
#3
Gregory Marslin, Karthik Siram, Xiang Liu, Vinoth Kumar Megraj Khandelwal, Shen Xiaolei, Wang Xiang, Gregory Franklin
Albendazole (ABZ) is an antihelminthic drug used for the treatment of several parasitic infestations. In addition to this, there are reports on the anticancer activity of ABZ against a wide range of cancer types. However, its effect on glioma has not yet been reported. In the present study, cytotoxicity of ABZ and ABZ loaded solid lipid nanoparticles (ASLNs) was tested in human glioma/astrocytoma cell line (U-87 MG). Using glyceryl trimyristate as lipid carrier and tween 80 as surfactant spherical ASLNs with an average size of 218...
November 22, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29164969/accuracy-of-self-reported-family-history-of-cancer-mutation-status-and-tumor-characteristics-in-patients-with-early-onset-breast-cancer
#4
Annelie Augustinsson, Carolina Ellberg, Ulf Kristoffersson, Åke Borg, Håkan Olsson
BACKGROUND: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. MATERIAL AND METHODS: Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden...
November 22, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29164798/regionally-specific-changes-in-the-hippocampal-circuitry-accompany-progression-of-cerebrospinal-fluid-biomarkers-in-preclinical-alzheimer-s-disease
#5
Christine L Tardif, Gabriel A Devenyi, Robert S C Amaral, Sandra Pelleieux, Judes Poirier, Pedro Rosa-Neto, John Breitner, M Mallar Chakravarty
Neuropathological and in vivo brain imaging studies agree that the cornu ammonis 1 and subiculum subfields of the hippocampus are most vulnerable to atrophy in the prodromal phases of Alzheimer's disease (AD). However, there has been limited investigation of the structural integrity of the components of the hippocampal circuit, including subfields and extra-hippocampal white matter structure, in relation to the progression of well-accepted cerebrospinal fluid (CSF) biomarkers of AD, amyloid-β 1-42 (Aβ) and total-tau (tau)...
November 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29164703/clinicopathological-characteristics-of-patients-with-upper-urinary-tract-urothelial-cancer-with-loss-of-immunohistochemical-expression-of-the-dna-mismatch-repair-proteins-in-universal-screening
#6
Shinji Urakami, Naoko Inoshita, Suguru Oka, Yu Miyama, Sachio Nomura, Masami Arai, Kazushige Sakaguchi, Kazuhiro Kurosawa, Toshikazu Okaneya
OBJECTIVES: To assess the detection rate of putative Lynch syndrome-associated upper urinary tract urothelial cancer among all upper urinary tract urothelial cancers and to examine its clinicopathological characteristics. METHODS: A total of 143 patients with upper urinary tract urothelial cancer who had received total nephroureterectomy were immunohistochemically stained for the expression of mismatch repair proteins MLH1, PMS2, MSH2 and MSH6. For all suspected mismatch repair-deficient cases, MMR genetic testing was recommended and clinicopathological features were examined...
November 22, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29164420/brcasearch-written-pre-test-information-and-brca1-2-germline-mutation-testing-in-unselected-patients-with-newly-diagnosed-breast-cancer
#7
Martin P Nilsson, Therese Törngren, Karin Henriksson, Ulf Kristoffersson, Anders Kvist, Barbro Silfverberg, Åke Borg, Niklas Loman
PURPOSE: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. METHODS: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that...
November 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29162713/capsular-polysaccharide-interferes-with-biofilm-formation-by-pasteurella-multocida-serogroup-a
#8
Briana Petruzzi, Robert E Briggs, W Edward Swords, Cristina De Castro, Antonio Molinaro, Thomas J Inzana
Pasteurella multocida is an important multihost animal and zoonotic pathogen that is capable of causing respiratory and multisystemic diseases, bacteremia, and bite wound infections. The glycosaminoglycan capsule of P. multocida is an essential virulence factor that protects the bacterium from host defenses. However, chronic infections (such as swine atrophic rhinitis and the carrier state in birds and other animals) may be associated with biofilm formation, which has not been characterized in P. multocida Biofilm formation by clinical isolates was inversely related to capsule production and was confirmed with capsule-deficient mutants of highly encapsulated strains...
November 21, 2017: MBio
https://www.readbyqxmd.com/read/29162674/the-initial-evaluation-of-patients-after-positive-newborn-screening-recommended-algorithms-leading-to-a-confirmed-diagnosis-of-pompe-disease
#9
Barbara K Burton, David F Kronn, Wuh-Liang Hwu, Priya S Kishnani
Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis of Pompe disease. This article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement provides recommendations for confirmatory testing after a positive NBS result indicative of Pompe disease is obtained. Two algorithms were developed by the Pompe Disease Newborn Screening Working Group, a group of international experts on both NBS and Pompe disease, based on whether DNA sequencing is performed as part of the screening method...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29161482/-abundance-composition-and-natural-infection-of-anopheles-mosquitoes-from-two-malaria-endemic-regions-of-colombia
#10
Carolina Montoya, Priscila Bascuñán, Julián Rodríguez-Zabala, Margarita M Correa
INTRODUCTION: In Colombia there are three Anopheles species implicated in malaria transmission as primary vectors; however, the local role of some Anopheles species must still be defined. OBJECTIVE: To determine the abundance, composition and natural infection rates for Anopheles mosquitoes with Plasmodium spp. in two malaria-endemic regions of Colombia. MATERIALS AND METHODS: Anopheles mosquitoes were collected using the human-landing catches and while resting in livestock corrals in nine localities of two malaria-endemic regions of Colombia...
March 29, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/29161300/brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#11
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
BACKGROUND: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria. RESULTS: A pathogenic/likely pathogenic variant was detected in 19...
2017: PloS One
https://www.readbyqxmd.com/read/29160684/improving-the-stability-of-high-performance-multilayer-mos2-field-effect-transistors
#12
Na Liu, Jongyeol Baek, Seung Min Kim, Seongin Hong, Young Ki Hong, Yang Soo Kim, Hyun-Suk Kim, Sunkook Kim, Jozeph Park
In this study, we propose a method for improving the stability of multilayer MoS2 field-effect transistors (FETs) by O2 plasma treatment and Al2O3 passivation sustaining high-performance characteristics of bulk MoS2 FET. The MoS2 FETs were exposed to O2 plasma for 30 s prior to Al2O3 encapsulation, showing a relatively small hysteresis and a high electrical performance. The MoOx layer formed during the plasma treatment was found between MoS2 and the top passivation layer. This MoOx interlayer prevents the generation of excess electron carriers in the channel due to Al2O3 passivation, minimizing the shift of threshold voltage (Vth) and increase of off-current leakage...
November 21, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29160506/treatment-adherence-in-patients-living-with-hiv-aids-assisted-at-a-specialized-facility-in-brazil
#13
Simone Miyada, Artênio José Ísper Garbin, Renata Colturato Joaquim Gatto, Cléa Adas Saliba Garbin
INTRODUCTION: In the 1990s, Brazil adopted a public policy that allowed for universal, free access to antiretroviral therapy (ART). Since then, treatment adherence has become a new challenge for administrators of sexually transmitted disease/acquired immunodeficiency syndrome (STD/AIDS) policies. This study quantified adherence to ART and verified whether there is an association between sociodemographic variables and clinical/laboratory data in human immunodeficiency virus (HIV)-infected patients...
September 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#14
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159681/advanced-strategies-for-eliminating-the-cccdna-of-hbv
#15
REVIEW
Jingwu Dong, Jie Ying, Xiaoyan Qiu, Yu Lu, Miaomiao Zhang
Persistent hepatitis B virus (HBV) infection of hepatocytes is associated with a covalently closed circular DNA (cccDNA) episome. Although serologic hepatitis B surface antigen tests are negative, the presence of cccDNA is obviously increased in HBeAg-positive patients compared with that in HBeAg-negative patients, inactive carriers and patients. Moreover, trace cccDNA levels can also be found in the liver cells of patients with resolved hepatitis B infections. Therefore, clearance of cccDNA in hepatocytes could be an effective cure for HBV...
November 20, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29157746/particle-filter-based-target-tracking-algorithm-for-magnetic-resonance-guided-respiratory-compensation-robustness-and-accuracy-assessment
#16
Alexandra E Bourque, Stéphane Bedwani, Jean-François Carrier, Cynthia Ménard, Pim Borman, Clemens Bos, Bas W Raaymakers, Nikolai Mickevicius, Eric Paulson, Rob H N Tijssen
PURPOSE: To assess overall robustness and accuracy of a modified particle filter-based tracking algorithm for magnetic resonance (MR)-guided radiation therapy treatments. METHODS AND MATERIALS: An improved particle filter-based tracking algorithm was implemented, which used a normalized cross-correlation function as the likelihood calculation. With a total of 5 healthy volunteers and 8 patients, the robustness of the algorithm was tested on 24 dynamic magnetic resonance imaging (MRI) time series with varying resolution, contrast, and signal-to-noise ratio...
October 12, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29157184/co-inheritance-of-hbb-c-106g%C3%A2-%C3%A2-c-a-rare-single-nucleotide-variation-at-position-56-relative-to-transcription-initiation-site-with-other-known-mutations-in-the-globin-clusters
#17
Margherita Vinciguerra, Cristina Passarello, Filippo Cassarà, Filippo Leto, Monica Cannata, Elisa Ferro, Davide Anzà, Giuseppina Calvaruso, Aurelio Maggio, Antonino Giambona
Objectives We performed molecular analysis to evaluate clinical implications of a rare nucleotide change, particularly when co-inherited with other known mutations in the globin clusters, in order to conduct an appropriate genetic counselling. Methods Complete blood cell counts and high-performance liquid chromatography were the routine first level analysis for patients referred to our Hospital Center in Palermo to undergo the screening test for haemoglobinopathies. Sequencing analysis was the selected method for the phenotypic characterization, especially in case of new or very rare mutations in globin genes...
November 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29156646/inhibition-of-bcl-2-and-cox-2-protein-expression-after-local-application-of-a-new-carmustine-loaded-clinoptilolite-based-delivery-system-in-a-chemically-induced-skin-cancer-model-in-mice
#18
Cristina Mihaela Ghiciuc, Aurel Lulu Strat, Lacramioara Ochiuz, Catalina Elena Lupusoru, Maria Ignat, Aurelia Vasile, Alexandru Grigorovici, Iulian Stoleriu, Carmen Solcan
Our research has focused on in vitro and in vivo evaluations of a new Carmustine (BCNU)-loaded clinoptilolite-based delivery system. Two clinoptilolite ionic forms-hydrogen form (HCLI) and sodium form (NaCLI)-were prepared, allowing a loading degree of about 5-6 mg BCNU/g of zeolite matrix due to the dual porous feature of clinoptilolite. Clinoptilolite-based delivery systems released 35.23% of the load in 12 h for the BCNU@HCLI system and only 10.82% for the BCNU@NaCLI system. The BCNU@HCLI system was chosen to develop gel and cream semisolid dosage forms...
November 20, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29156613/synthesis-and-swelling-behavior-of-ph-sensitive-semi-ipn-superabsorbent-hydrogels-based-on-poly-acrylic-acid-reinforced-with-cellulose-nanocrystals
#19
Lim Sze Lim, Noor Afizah Rosli, Ishak Ahmad, Azwan Mat Lazim, Mohd Cairul Iqbal Mohd Amin
pH-sensitive poly(acrylic acid) (PAA) hydrogel reinforced with cellulose nanocrystals (CNC) was prepared. Acrylic acid (AA) was subjected to chemical cross-linking using the cross-linking agent MBA (N,N-methylenebisacrylamide) with CNC entrapped in the PAA matrix. The quantity of CNC was varied between 0, 5, 10, 15, 20, and 25 wt %. X-ray diffraction (XRD) data showed an increase in crystallinity with the addition of CNC, while rheology tests demonstrated a significant increase in the storage modulus of the hydrogel with an increase in CNC content...
November 20, 2017: Nanomaterials
https://www.readbyqxmd.com/read/29154474/intracrine-prostaglandin-e2-pro-tumoral-actions-in-prostate-epithelial-cells-originate-from-non-canonical-pathways
#20
Antonio Madrigal-Martínez, Ana B Fernández-Martínez, Francisco J Lucio Cazaña
Prostaglandin E2 (PGE2 ) increases cell proliferation and stimulates migratory and angiogenic abilities in prostate cancer cells. However, the effects of PGE2 on non-transformed prostate epithelial cells are unknown, despite the fact that PGE2 overproduction has been found in benign hyperplastic prostates. In the present work we studied the effects of PGE2 in immortalized, non-malignant prostate epithelial RWPE-1 cells and found that PGE2 increased cell proliferation, cell migration, and production of vascular endothelial growth factor-A, and activated in vitro angiogenesis...
November 20, 2017: Journal of Cellular Physiology
keyword
keyword
107746
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"