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https://www.readbyqxmd.com/read/28936199/bone-status-in-a-patient-with-insulin-like-growth-factor-1-receptor-deletion-syndrome-bone-quality-and-structure-evaluation-using-dual-energy-x-ray-absorptiometry-peripheral-quantitative-computed-tomography-and-quantitative-ultrasonography
#1
Paola Pelosi, Elisabetta Lapi, Loredana Cavalli, Alberto Verrotti, Marilena Pantaleo, Maurizio de Martino, Stefano Stagi
Haploinsufficiency of the insulin-like growth factor (IGF)-1 receptor (IGF1R) gene is a rare, probably under-diagnosed, cause of short stature. However, the effects of IGF1R haploinsufficiency on glucose metabolism, bone status, and metabolism have rarely been investigated. We report the case of a patient referred to our center at the age of 18 months for short stature, failure to thrive, and Silver-Russell-like phenotype. Genetic analysis did not show hypomethylation of the 11p15.5 region or uniparental disomy of chromosome 7...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28936114/practical-application-of-genomic-selection-in-a-doubled-haploid-winter-wheat-breeding-program
#2
Jiayin Song, Brett F Carver, Carol Powers, Liuling Yan, Jaroslav Klápště, Yousry A El-Kassaby, Charles Chen
Crop improvement is a long-term, expensive institutional endeavor. Genomic selection (GS), which uses single nucleotide polymorphism (SNP) information to estimate genomic breeding values, has proven efficient to increasing genetic gain by accelerating the breeding process in animal breeding programs. As for crop improvement, with few exceptions, GS applicability remains in the evaluation of algorithm performance. In this study, we examined factors related to GS applicability in line development stage for grain yield using a hard red winter wheat (Triticum aestivum L...
2017: Molecular Breeding: New Strategies in Plant Improvement
https://www.readbyqxmd.com/read/28931596/non-random-%C3%AE-tuna-dependent-spatial-pattern-of-microtubule-nucleation-at-the-golgi
#3
Anna A W M Sanders, Kevin Chang, Xiaodong Zhu, Roslin J Thoppil, William R Holmes, Irina Kaverina
Non-centrosomal microtubule (MT) nucleation at the Golgi generates MT network asymmetry in motile vertebrate cells. Investigating Golgi-derived MT (GDMT) distribution, we find that MT asymmetry arises from non-random nucleation sites at the Golgi (hotspots). Using computational simulations, we propose two plausible mechanistic models of GDMT nucleation leading to this phenotype. In the "Cooperativity" model, formation of a single GDMT promotes further nucleation at the same site. In the "Heterogeneous Golgi" model, MT nucleation is dramatically upregulated at discrete and sparse locations within the Golgi...
September 20, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28930911/an-enrichment-strategy-yields-seven-novel-single-nucleotide-polymorphisms-associated-with-mortality-and-altered-th17-responses-following-blunt-trauma
#4
Lukas Schimunek, Rami A Namas, Jinling Yin, Dongmei Liu, Derek Barclay, Fayten El-Dehaibi, Andrew Abboud, Haley Lindberg, Ruben Zamora, R Billiar Timothy, Yoram Vodovotz
Trauma is the leading cause of death worldwide for individuals under the age of 55. Interpatient genomic differences, in the form of candidate single nucleotide polymorphisms (SNPs), have been associated previously with adverse outcomes after trauma. However, the utility of these SNPs to predict outcomes based on a meaningful endpoint such as survival is as yet undefined. We hypothesized that specific SNP haplotypes could segregate trauma survivors from non-survivors. Genomic DNA samples were obtained from 453 blunt trauma patients, for whom complete daily clinical and biomarker data were available for 397...
September 19, 2017: Shock
https://www.readbyqxmd.com/read/28927581/differential-aging-signals-in-abdominal-ct-scans
#5
Nikita V Orlov, Sokratis Makrogiannis, Luigi Ferrucci, Ilya G Goldberg
RATIONALE AND OBJECTIVES: Changes in the composition of body tissues are major aging phenotypes, but they have been difficult to study in depth. Here we describe age-related change in abdominal tissues observable in computed tomography (CT) scans. We used pattern recognition and machine learning to detect and quantify these changes in a model-agnostic fashion. MATERIALS AND METHODS: CT scans of abdominal L4 sections were obtained from Baltimore Longitudinal Study of Aging (BLSA) participants...
September 15, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#6
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28919731/sensitization-to-aspergillus-fumigatus-as-a-risk-factor-for-bronchiectasis-in-copd
#7
Stephanie Everaerts, Katrien Lagrou, Adriana Dubbeldam, Natalie Lorent, Kristina Vermeersch, Erna Van Hoeyveld, Xavier Bossuyt, Lieven J Dupont, Bart M Vanaudenaerde, Wim Janssens
BACKGROUND: Bronchiectasis-chronic obstructive pulmonary disease (COPD) overlap presents a possible clinical phenotype of COPD, but it is unclear why it develops in a subset of patients. We hypothesized that sensitization to Aspergillus fumigatus (A fum) is associated with bronchiectasis in COPD and occurs more frequently in vitamin D-deficient patients. METHODS: This observational study investigated sensitization to A fum in an outpatient clinical cohort of 300 COPD patients and 50 (ex-) smoking controls...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28917725/a-computational-approach-for-phenotypic-comparisons-of-cell-populations-in-high-dimensional-cytometry-data
#8
Ludovic Platon, David Pejoski, Guillaume Gautreau, Brice Targat, Roger Le Grand, Anne-Sophie Beignon, Nicolas Tchitchek
BACKGROUND: Cytometry is an experimental technique used to measure molecules expressed by cells at a single cell resolution. Recently, several technological improvements have made possible to increase greatly the number of cell markers that can be simultaneously measured. Many computational methods have been proposed to identify clusters of cells having similar phenotypes. Nevertheless, only a limited number of computational methods permits to compare the phenotypes of the cell clusters identified by different clustering approaches...
September 13, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28917724/backward-genotype-transcript-phenotype-association-mapping
#9
Seunghak Lee, Haohan Wang, Eric P Xing
Genome-wide association studies have discovered a large number of genetic variants associated with complex diseases such as Alzheimer's disease. However, the genetic background of such diseases is largely unknown due to the complex mechanisms underlying genetic effects on traits, as well as a small sample size (e.g., 1000) and a large number of genetic variants (e.g., 1 million). Fortunately, datasets that contain genotypes, transcripts, and phenotypes are becoming more readily available, creating new opportunities for detecting disease-associated genetic variants...
September 13, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28917669/knowledge-driven-computational-modeling-in-alzheimer-s-research-current-state-and-future-trends
#10
Hugo Geerts, Martin Hofmann-Apitius, Thomas J Anastasio
Neurodegenerative diseases such as Alzheimer's disease (AD) follow a slowly progressing dysfunctional trajectory, with a large presymptomatic component and many comorbidities. Using preclinical models and large-scale omics studies ranging from genetics to imaging, a large number of processes that might be involved in AD pathology at different stages and levels have been identified. The sheer number of putative hypotheses makes it almost impossible to estimate their contribution to the clinical outcome and to develop a comprehensive view on the pathological processes driving the clinical phenotype...
September 14, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28917501/personalized-translational-epilepsy-research-novel-approaches-and-future-perspectives-part-i-clinical-and-network-analysis-approaches
#11
REVIEW
Felix Rosenow, Natascha van Alphen, Albert Becker, Andreas Chiocchetti, Ralf Deichmann, Thomas Deller, Thomas Freiman, Christine M Freitag, Johannes Gehrig, Anke M Hermsen, Peter Jedlicka, Christian Kell, Karl Martin Klein, Susanne Knake, Dimitri M Kullmann, Stefan Liebner, Braxton A Norwood, Diana Omigie, Karlheinz Plate, Andreas Reif, Philipp S Reif, Yvonne Reiss, Jochen Roeper, Michael W Ronellenfitsch, Stephanie Schorge, Gerhard Schratt, Stephan W Schwarzacher, Joachim P Steinbach, Adam Strzelczyk, Jochen Triesch, Marlies Wagner, Matthew C Walker, Frederic von Wegner, Sebastian Bauer
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epilepsy following an initial precipitating brain injury or to reverse established epilepsy have been identified to date. This is likely in part due to the polyetiologic nature of epilepsy, which in turn requires personalized medicine approaches. Recent advances in imaging, pathology, genetics and epigenetics have led to new pathophysiological concepts and the identification of monogenic causes of epilepsy...
September 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28917498/personalized-translational-epilepsy-research-novel-approaches-and-future-perspectives-part-ii-experimental-and-translational-approaches
#12
REVIEW
Sebastian Bauer, Natascha van Alphen, Albert Becker, Andreas Chiocchetti, Ralf Deichmann, Thomas Deller, Thomas Freiman, Christine M Freitag, Johannes Gehrig, Anke M Hermsen, Peter Jedlicka, Christian Kell, Karl Martin Klein, Susanne Knake, Dimitri M Kullmann, Stefan Liebner, Braxton A Norwood, Diana Omigie, Karlheinz Plate, Andreas Reif, Philipp S Reif, Yvonne Reiss, Jochen Roeper, Michael W Ronellenfitsch, Stephanie Schorge, Gerhard Schratt, Stephan W Schwarzacher, Joachim P Steinbach, Adam Strzelczyk, Jochen Triesch, Marlies Wagner, Matthew C Walker, Frederic von Wegner, Felix Rosenow
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epilepsy following an initial precipitating brain injury or to reverse established epilepsy have been identified to date. This is likely in part due to the polyetiologic nature of epilepsy, which in turn requires personalized medicine approaches. Recent advances in imaging, pathology, genetics, and epigenetics have led to new pathophysiological concepts and the identification of monogenic causes of epilepsy...
September 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28916840/a-novel-col1a2-c-propeptide-cleavage-site-mutation-causing-high-bone-mass-osteogenesis-imperfecta-with-a-regional-distribution-pattern
#13
T Rolvien, U Kornak, J Stürznickel, T Schinke, M Amling, S Mundlos, R Oheim
Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3...
September 15, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28913616/bone-phenotype-assessed-by-hrpqct-and-associations-with-fracture-risk-in-the-glow-study
#14
A E Litwic, L D Westbury, D E Robinson, K A Ward, C Cooper, E M Dennison
The epidemiology and pathogenesis of fractures in postmenopausal women has previously been investigated in the Global Longitudinal study of Osteoporosis in Women (GLOW). To date, however, relationships between bone imaging outcomes and fracture have not been studied in this cohort. We examined relationships between high-resolution peripheral quantitative computed tomography (HRpQCT) parameters and fracture in the UK arm of GLOW, performing a cluster analysis to assess if our findings were similar to observations reported from older participants of the Hertfordshire Cohort Study (HCS), and extended the analysis to include tibial measurements...
September 14, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28912282/apparent-diffusion-coefficient-histograms-of-human-papillomavirus-positive-and-human-papillomavirus-negative-head-and-neck-squamous-cell-carcinoma-assessment-of-tumor-heterogeneity-and-comparison-with-histopathology
#15
T de Perrot, V Lenoir, M Domingo Ayllón, N Dulguerov, M Pusztaszeri, M Becker
BACKGROUND AND PURPOSE: Head and neck squamous cell carcinoma associated with human papillomavirus infection represents a distinct tumor entity. We hypothesized that diffusion phenotypes based on the histogram analysis of ADC values reflect distinct degrees of tumor heterogeneity in human papillomavirus-positive and human papillomavirus-negative head and neck squamous cell carcinomas. MATERIALS AND METHODS: One hundred five consecutive patients (mean age, 64 years; range, 45-87 years) with primary oropharyngeal (n = 52) and oral cavity (n = 53) head and neck squamous cell carcinoma underwent MR imaging with anatomic and diffusion-weighted sequences (b = 0, b = 1000 s/mm(2), monoexponential ADC calculation)...
September 14, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28910816/mediastinal-and-subcutaneous-chest-fat-are-differentially-associated-with-emphysema-progression-and-clinical-outcomes-in-smokers
#16
Jon Grace, Joseph K Leader, Seyed M Nouraie, Jiantao Pu, Divay Chandra, Yingze Zhang, Frank C Sciurba, Jessica Bon
BACKGROUND: Studies have demonstrated both positive and negative effects of obesity on clinical outcomes in chronic obstructive pulmonary disease (COPD). In other chronic diseases, fat location is differentially associated with disease outcomes; however, this relationship has not been well studied in COPD. OBJECTIVE: To determine if fat location explains the differential association of body mass index (BMI) with clinical outcome measures in smokers. METHODS: Baseline and 6-year chest computed tomography scans from 68 current and former smokers were used to quantify mediastinal and subcutaneous fat...
September 15, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28906034/small-airway-disease-a-different-phenotype-of-early-stage-copd-associated-with-biomass-smoke-exposure
#17
Dongxing Zhao, Yumin Zhou, Changbin Jiang, Zhuxiang Zhao, Fang He, Pixin Ran
BACKGROUND AND OBJECTIVE: Chronic exposure to biomass smoke (BS) can significantly compromise pulmonary function and lead to chronic obstructive pulmonary disease (COPD). To determine whether BS exposure induces a unique phenotype of COPD from an early stage, with different physiopathological features compared with COPD associated with smoking (cigarette-smoke (CS) COPD), we assessed the physiopathology of early COPD associated with BS exposure (BS COPD) by incorporating spirometry, high-resolution computed tomography (HRCT) imaging, bronchoscopy and pathological examinations...
September 14, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28904985/cholinergic-activity-and-levodopa-induced-dyskinesia-a-multitracer-molecular-imaging-study
#18
Joachim Brumberg, Sebastian Küsters, Ehab Al-Momani, Giorgio Marotta, Kelly P Cosgrove, Christopher H van Dyck, Ken Herrmann, György A Homola, Gianni Pezzoli, Andreas K Buck, Jens Volkmann, Samuel Samnick, Ioannis U Isaias
OBJECTIVE: To investigate the association between levodopa-induced dyskinesias and striatal cholinergic activity in patients with Parkinson's disease. METHODS: This study included 13 Parkinson's disease patients with peak-of-dose levodopa-induced dyskinesias, 12 nondyskinetic patients, and 12 healthy controls. Participants underwent 5-[(123)I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine single-photon emission computed tomography, a marker of nicotinic acetylcholine receptors, [(123)I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane single-photon emission computed tomography, to measure dopamine reuptake transporter density and 2-[(18)F]fluoro-2-deoxyglucose positron emission tomography to assess regional cerebral metabolic activity...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28898266/translating-natural-genetic-variation-to-gene-expression-in-a-computational-model-of-the-drosophila-gap-gene-regulatory-network
#19
Vitaly V Gursky, Konstantin N Kozlov, Ivan V Kulakovskiy, Asif Zubair, Paul Marjoram, David S Lawrie, Sergey V Nuzhdin, Maria G Samsonova
Annotating the genotype-phenotype relationship, and developing a proper quantitative description of the relationship, requires understanding the impact of natural genomic variation on gene expression. We apply a sequence-level model of gap gene expression in the early development of Drosophila to analyze single nucleotide polymorphisms (SNPs) in a panel of natural sequenced D. melanogaster lines. Using a thermodynamic modeling framework, we provide both analytical and computational descriptions of how single-nucleotide variants affect gene expression...
2017: PloS One
https://www.readbyqxmd.com/read/28892470/different-molecular-complexes-that-mediate-transcriptional-induction-and-repression-by-foxp3
#20
Ho-Keun Kwon, Hui-Min Chen, Diane Mathis, Christophe Benoist
FoxP3 conditions the transcriptional signature and functional facets of regulatory T cells (Treg cells). Its mechanism of action, whether as an activator or a repressor, has remained unclear. Here, chromatin analysis showed that FoxP3 bound active enhancer elements, not repressed chromatin, around loci over- or under-expressed in Treg cells. We evaluated the impact of a panel of FoxP3 mutants on its transcriptional activity and interactions with DNA, transcriptional cofactors and chromatin. Computational integration, confirmed by biochemical interaction and size analyses, showed that FoxP3 existed in distinct multimolecular complexes...
September 11, 2017: Nature Immunology
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