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Phenotypic heterogeneity

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https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#1
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28526779/the-phenotypic-spectrum-of-nephropathies-associated-with-mutations-in-diacylglycerol-kinase-%C3%AE%C2%B5
#2
Karolis Azukaitis, Eva Simkova, Mohammad Abdul Majid, Matthias Galiano, Kerstin Benz, Kerstin Amann, Clemens Bockmeyer, Radha Gajjar, Kevin E Meyers, Hae Il Cheong, Bärbel Lange-Sperandio, Therese Jungraithmayr, Véronique Frémeaux-Bacchi, Carsten Bergmann, Csaba Bereczki, Monika Miklaszewska, Dorottya Csuka, Zoltán Prohászka, Patrick Gipson, Matthew G Sampson, Mathieu Lemaire, Franz Schaefer
The recent discovery of mutations in the gene encoding diacylglycerol kinase ε (DGKE) identified a novel pathophysiologic mechanism leading to HUS and/or MPGN. We report ten new patients from eight unrelated kindreds with DGKE nephropathy. We combined these cases with all previously published cases to characterize the phenotypic spectrum and outcomes of this new disease entity. Most patients presented with HUS accompanied by proteinuria, whereas a subset of patients exhibited clinical and histologic patterns of MPGN without TMA...
May 19, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28523442/catalytic-properties-and-heat-stabilities-of-novel-recombinant-human-n-acetyltransferase-2-allozymes-support-existence-of-genetic-heterogeneity-within-the-slow-acetylator-phenotype
#3
David W Hein, Mark A Doll
Human N-acetyltransferase 2 (NAT2) catalyzes the N-acetylation of numerous aromatic amine drugs such as sulfamethazine (SMZ) and hydrazine drugs such as isoniazid (INH). NAT2 also catalyzes the N-acetylation of aromatic amine carcinogens such as 2-aminofluorene and the O- and N,O-acetylation of aromatic amine and heterocyclic amine metabolites. Genetic polymorphism in NAT2 modifies drug efficacy and toxicity as well as cancer risk. Acetyltransferase catalytic activities and heat stability associated with six novel NAT2 haplotypes (NAT2*6C, NAT2*14C, NAT2*14D, NAT2*14E, NAT2*17, and NAT2*18) were compared with that of the reference NAT2*4 haplotype following recombinant expression in Escherichia coli...
May 18, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28523432/novel-t-cells-with-improved-in-vivo-anti-tumor-activity-generated-by-rna-electroporation
#4
Xiaojun Liu, Shuguang Jiang, Chongyun Fang, Hua Li, Xuhua Zhang, Fuqin Zhang, Carl H June, Yangbing Zhao
The generation of T cells with maximal anti-tumor activities will significantly impact the field of T-cell-based adoptive immunotherapy. In this report, we found that OKT3/IL-2-stimulated T cells were phenotypically more heterogeneous, with enhanced anti-tumor activity in vitro and when locally administered in a solid tumor mouse model. To further improve the OKT3/IL-2-based T cell manufacturing procedure, we developed a novel T cell stimulation and expansion method in which peripheral blood mononuclear cells were electroporated with mRNA encoding a chimeric membrane protein consisting of a single-chain variable fragment against CD3 and the intracellular domains of CD28 and 4-1BB (OKT3-28BB)...
May 18, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28523402/advances-in-the-care-of-primary-immunodeficiencies-pids-from-birth-to-adulthood
#5
Nizar Mahlaoui, Klaus Warnatz, Alison Jones, Sarita Workman, Andrew Cant
Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches...
May 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28523350/comparison-of-a-radiomic-biomarker-with-volumetric-analysis-for-decoding-tumour-phenotypes-of-lung-adenocarcinoma-with-different-disease-specific-survival
#6
Mei Yuan, Yu-Dong Zhang, Xue-Hui Pu, Yan Zhong, Hai Li, Jiang-Fen Wu, Tong-Fu Yu
OBJECTIVES: To compare a multi-feature-based radiomic biomarker with volumetric analysis in discriminating lung adenocarcinomas with different disease-specific survival on computed tomography (CT) scans. METHODS: This retrospective study obtained institutional review board approval and was Health Insurance Portability and Accountability Act (HIPAA) compliant. Pathologically confirmed lung adenocarcinoma (n = 431) manifested as subsolid nodules on CT were identified...
May 18, 2017: European Radiology
https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#7
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521483/use-of-laser-capture-microdissection-allows-detection-of-loss-of-heterozygosity-in-chromosome-9p-in-breast-cancer
#8
Margarida Figueiredo Dias, Robert Blumenstein, Jose Russo
The present study was designed to determine whether loss of heterozygosity (LOH) in the p arm of chromosome 9 in invasive ductal carcinoma of the breast is detected during the neoplastic progression of the disease. Using laser capture microdissection (LCM) epithelial cells were isolated from 14 invasive ductal carcinoma cases (IDC), ductal carcinomas in situ (DCIS), normal mammary lobules, skin and/or lymph nodes of paraffin embedded tissue sections. LOH analysis of chromosome 9p was performed utilizing the microsatellite markers D9S199, D9S157, D9S171, D9S265 and D9S270...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521083/inflammatory-infiltrate-and-mucosal-remodeling-in-chronic-rhinosinusitis-with-and-without-polyps-structured-histopathologic-analysis
#9
Hannah N Kuhar, Bobby A Tajudeen, Mahboobeh Mahdavinia, Paolo Gattuso, Ritu Ghai, Pete S Batra
BACKGROUND: Chronic rhinosinusitis (CRS) is commonly classified into CRS with nasal polyps (CRSwNP) and CRS without nasal polyps (CRSsNP). Structured histopathologic reporting has the potential to identify salient histologic markers to differentiate subtypes and provide insights into pathophysiologic mechanisms in CRS. METHODS: A structured histopathology report of 13 variables was prospectively employed to analyze ethmoid sinus tissue removed during endoscopic sinus surgery for 99 patients, including 43 CRSsNP and 56 CRSwNP...
May 18, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28520848/pattern-fusion-analysis-by-adaptive-alignment-of-multiple-heterogeneous-omics-data
#10
Qianqian Shi, Chuanchao Zhang, Minrui Peng, Xiangtian Yu, Tao Zeng, Juan Liu, Luonan Chen
Motivation: Integrating different omics profiles is a challenging task, which provides a comprehensive way to understand complex diseases in a multi-view manner. One key for such an integration is to extract intrinsic patterns in concordance with data structures, so as to discover consistent information across various data types even with noise pollution. Thus, we proposed a novel framework called "pattern fusion analysis" (PFA), which performs automated information alignment and bias correction, to fuse local sample-patterns (e...
May 18, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28520730/analysis-of-heterogeneity-in-t2-weighted-mr-images-can-differentiate-pseudoprogression-from-progression-in-glioblastoma
#11
Thomas C Booth, Timothy J Larkin, Yinyin Yuan, Mikko I Kettunen, Sarah N Dawson, Daniel Scoffings, Holly C Canuto, Sarah L Vowler, Heide Kirschenlohr, Michael P Hobson, Florian Markowetz, Sarah Jefferies, Kevin M Brindle
PURPOSE: To develop an image analysis technique that distinguishes pseudoprogression from true progression by analyzing tumour heterogeneity in T2-weighted images using topological descriptors of image heterogeneity called Minkowski functionals (MFs). METHODS: Using a retrospective patient cohort (n = 50), and blinded to treatment response outcome, unsupervised feature estimation was performed to investigate MFs for the presence of outliers, potential confounders, and sensitivity to treatment response...
2017: PloS One
https://www.readbyqxmd.com/read/28518137/nerve-growth-factor-from-chinese-cobra-venom-stimulates-chondrogenic-differentiation-of-mesenchymal-stem-cells
#12
Zhenhui Lu, Danqing Lei, Tongmeng Jiang, Lihui Yang, Li Zheng, Jinmin Zhao
Growth factors such as transforming growth factor beta1 (TGF-β1), have critical roles in the regulation of the chondrogenic differentiation of mesenchymal stem cells (MSCs), which promote cartilage repair. However, the clinical applications of the traditional growth factors are limited by their high cost, functional heterogeneity and unpredictable effects, such as cyst formation. It may be advantageous for cartilage regeneration to identify a low-cost substitute with greater chondral specificity and easy accessibility...
May 18, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28518118/harnessing-the-dna-dye-triggered-side-population-phenotype-to-detect-and-purify-cancer-stem-cells-from-biological-samples
#13
Maximilian Boesch, Elisabeth Hoflehner, Dominik Wolf, Guenther Gastl, Sieghart Sopper
Cancer is a stem cell-driven disease and eradication of these cells has become a major therapeutic goal. Deciphering vulnerabilities of Cancer Stem Cells (CSCs) and identifying suitable molecular targets relies on methods that allow their specific discrimination in heterogeneous samples such as cell lines and ex vivo tumor tissue. Flow cytometry/FACS is a powerful technology to multi-parametrically dissect biological samples at the single cell level and is to date the method of choice to recover live cells for downstream analyses...
May 10, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28518056/functionally-diverse-human-t-cells-recognize-non-microbial-antigens-presented-by-mr1
#14
Marco Lepore, Artem Kalinichenko, Salvatore Calogero, Pavanish Kumar, Bhairav Paleja, Mathias Schmaler, Vipin Narang, Francesca Zolezzi, Michael Poidinger, Lucia Mori, Gennaro De Libero
MHC class I-related molecule MR1 presents riboflavin- and folate-related metabolites to mucosal-associated invariant T cells, but it is unknown whether MR1 can present alternative antigens to other T cell lineages. In healthy individuals we identified MR1-restricted T cells (named MR1T cells) displaying diverse TCRs and reacting to MR1-expressing cells in the absence of microbial ligands. Analysis of MR1T cell clones revealed specificity for distinct cell-derived antigens and alternative transcriptional strategies for metabolic programming, cell cycle control and functional polarization following antigen stimulation...
May 18, 2017: ELife
https://www.readbyqxmd.com/read/28517979/cell-type-deconvolution-in-epigenome-wide-association-studies-a-review-and-recommendations
#15
Andrew E Teschendorff, Shijie C Zheng
A major challenge faced by epigenome-wide association studies (EWAS) is cell-type heterogeneity. As many EWAS have already demonstrated, adjusting for changes in cell-type composition can be critical when analyzing and interpreting findings from such studies. Because of their importance, a great number of different statistical algorithms, which adjust for cell-type composition, have been proposed. Some of the methods are 'reference based' in that they require a priori defined reference DNA methylation profiles of cell types that are present in the tissue of interest, while other algorithms are 'reference free...
May 2017: Epigenomics
https://www.readbyqxmd.com/read/28517961/overcoming-chemoresistance-in-cancer-stem-cells-with-the-help-of-micrornas-in-colorectal-cancer
#16
Andrew Fesler, Shixiang Guo, Hua Liu, Ning Wu, Jingfang Ju
It has been recognized that acute resistance to chemotherapy mediated by post-transcriptional and translational control is crucial to influence response and survival in cancer treatment. Tumor cells are highly heterogeneous and have the ability to adapt a resistance phenotype through epigenetic regulations such as microRNAs. This poses a major challenge to the treatment of advanced stage colon cancer patients. Colon cancer stem cells have been identified as one of the major contributors to resistance of colon cancer to chemotherapy...
May 18, 2017: Epigenomics
https://www.readbyqxmd.com/read/28516728/increased-heterogeneity-of-airway-calibre-in-adult-rats-after-hypoxia-induced-intrauterine-growth-restriction
#17
Kimberley C W Wang, Jude S Morton, Sandra T Davidge, Alexander N Larcombe, Alan L James, Graham M Donovan, Peter B Noble
BACKGROUND AND OBJECTIVE: Intrauterine growth restriction (IUGR) is associated with asthma development. We hypothesized that IUGR disrupts airway development leading to postnatal structural abnormalities of the airway that predispose to disease. This study therefore examined structural changes to the airway and lung in a rat model of maternal hypoxia-induced IUGR. METHODS: Pregnant rats were housed under hypoxic conditions (11.5% O2 ) from gestational days (GDs) 13 to 20 (pseudoglandular-canalicular stages, i...
May 17, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28516247/genetic-heterogeneity-among-slow-acetylator-n-acetyltransferase-2-phenotypes-in-cryopreserved-human-hepatocytes
#18
Mark A Doll, David W Hein
Genetic polymorphisms in human N-acetyltransferase 2 (NAT2) modify the metabolism of numerous drugs and carcinogens. These genetic polymorphisms modify both drug efficacy and toxicity and cancer risk associated with carcinogen exposure. Previous studies have suggested phenotypic heterogeneity among different NAT2 slow acetylator genotypes. NAT2 phenotype was investigated in vitro and in situ in samples of human hepatocytes obtained from various NAT2 slow and intermediate NAT2 acetylator genotypes. NAT2 gene dose response (NAT2*5B/*5B > NAT2*5B/*6A > NAT2*6A/*6A) was observed towards the N-acetylation of the NAT2-specific drug sulfamethazine by human hepatocytes both in vitro and in situ...
May 17, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#19
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515706/research-priorities-in-limb-and-task-specific-dystonias
#20
REVIEW
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H A Jinnah, Teresa J Kimberley, Codrin Lungu, Joel S Perlmutter, Cecília N Prudente, Mark Hallett
Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research...
2017: Frontiers in Neurology
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