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https://www.readbyqxmd.com/read/28214153/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation
#1
José Marçalo, Luiz Menezes Falcão
A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension...
February 14, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28213833/molecular-imaging-in-synthetic-biology-and-synthetic-biology-in-molecular-imaging
#2
REVIEW
Assaf A Gilad, Mikhail G Shapiro
Biomedical synthetic biology is an emerging field in which cells are engineered at the genetic level to carry out novel functions with relevance to biomedical and industrial applications. This approach promises new treatments, imaging tools, and diagnostics for diseases ranging from gastrointestinal inflammatory syndromes to cancer, diabetes, and neurodegeneration. As these cellular technologies undergo pre-clinical and clinical development, it is becoming essential to monitor their location and function in vivo, necessitating appropriate molecular imaging strategies, and therefore, we have created an interest group within the World Molecular Imaging Society focusing on synthetic biology and reporter gene technologies...
February 17, 2017: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#3
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28212121/identification-and-evaluation-of-clinically-significant-prostate-cancer-a-step-towards-personalized-diagnosis
#4
Adnan Ali, Alexander Hoyle, Esther Baena, Noel W Clarke
PURPOSE OF REVIEW: Prostate cancer (PCa) diagnostics are evolving rapidly. The quest to differentiate 'clinically significant' from 'clinically insignificant' disease has gathered momentum, leading to substantial change in traditional diagnostic approaches. Herein, we review the relevant information on currently available biomarkers and assess their ability to help physicians and patients in making a shared and personalized decision based on their individual risk of harbouring clinically significant disease...
February 16, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28211844/a-tool-named-iris-for-versatile-high-throughput-phenotyping-in-microorganisms
#5
George Kritikos, Manuel Banzhaf, Lucia Herrera-Dominguez, Alexandra Koumoutsi, Morgane Wartel, Matylda Zietek, Athanasios Typas
Advances in our ability to systematically introduce and track controlled genetic variance in microorganisms have, in the past decade, fuelled high-throughput reverse genetics approaches. When coupled to quantitative readouts, such approaches are extremely powerful at elucidating gene function and providing insights into the underlying pathways and the overall cellular network organization. Yet, until now, all efforts to quantify microbial macroscopic phenotypes have been restricted to monitoring growth in a small number of model microorganisms...
February 17, 2017: Nature Microbiology
https://www.readbyqxmd.com/read/28211559/behavioral-genetics-in-polish-print-news-media-between-2000-and-2014
#6
Jan Domaradzki
OBJECTIVES: The aim of this paper is to describe how Polish print news media frame relations between genetics and human behaviors and what images of behavioral genetics dominate in press discourse. METHODS: A content and frame analysis of 72 print news articles about behavioral genetics published between 2000 and 2014 in four major Polish weekly magazines: "Polityka", "Wprost", "Newsweek" and "Przekrój" was conducted. RESULTS: Twenty one different behaviors were mentioned in the sample and six major analytic frames were identified: essentialist, materialistic, deterministic, probabilistic, optimistic and pessimistic...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28211501/high-resolution-3d-imaging-of-whole-organ-after-clearing-taking-a-new-look-at-the-zebrafish-testis
#7
Maxence Frétaud, Laurie Rivière, Élodie De Job, Stéphanie Gay, Jean-Jacques Lareyre, Jean-Stéphane Joly, Pierre Affaticati, Violette Thermes
Zebrafish testis has become a powerful model for reproductive biology of teleostean fishes and other vertebrates and encompasses multiple applications in applied and basic research. Many studies have focused on 2D images, which is time consuming and implies extrapolation of results. Three-dimensional imaging of whole organs recently became an important challenge to better understand their architecture and allow cell enumeration. Several protocols have thus been developed to enhance sample transparency, a limiting step for imaging large biological samples...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28210535/magnetic-resonance-imaging-in-a-neurofibromatosis-type-2-patient-with-a-novel-mri-compatible-auditory-brainstem-implant
#8
REVIEW
Matthew Shew, Judson Bertsch, Paul Camarata, Hinrich Staecker
Auditory brainstem implantation has become a key technique for the rehabilitation of hearing in patients with neurofibromatosis type 2. The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan. Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Patients have the option of having a short procedure to have the magnet taken out and replaced each time, or alternately using a headband to secure the processor over the receiver coil of the internal device...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28209913/rapid-imaging-of-tumor-cell-death-in-vivo-using-the-c2a-domain-of-synaptotagmin-i
#9
André A Neves, Bangwen Xie, Sarah Fawcett, Israt S Alam, Timothy H Witney, Maaike M de Backer, Julia Summers, William Hughes, Sarah McGuire, Dmitry Soloviev, Jodie Miller, William J Howat, De-En Hu, Tiago B Rodrigues, David Y Lewis, Kevin M Brindle
Cell death is an important target for imaging the early response of tumors to treatment. We describe here validation of a phosphatidylserine-binding agent for detecting tumor cell death in vivo based on the C2A domain of Synaptotagmin-I. Methods: The capability of near infrared fluorophore-labeled and 99mTechnetium- and (111)Indium-labeled derivatives of C2Am for imaging tumor cell death, using planar near infrared fluorescence (NIRF) imaging and single photon computed tomography (SPECT) respectively, was evaluated in implanted and genetically engineered mouse models of lymphoma and in a human colorectal xenograft...
February 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28209644/mitochondrial-dysfunction-induces-dendritic-loss-via-eif2%C3%AE-phosphorylation
#10
Taiichi Tsuyama, Asako Tsubouchi, Tadao Usui, Hiromi Imamura, Tadashi Uemura
Mitochondria are key contributors to the etiology of diseases associated with neuromuscular defects or neurodegeneration. How changes in cellular metabolism specifically impact neuronal intracellular processes and cause neuropathological events is still unclear. We here dissect the molecular mechanism by which mitochondrial dysfunction induced by Prel aberrant function mediates selective dendritic loss in Drosophila melanogaster class IV dendritic arborization neurons. Using in vivo ATP imaging, we found that neuronal cellular ATP levels during development are not correlated with the progression of dendritic loss...
February 16, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28208155/pet-mr-in-invasive-ductal-breast-cancer-correlation-between-imaging-markers-and-histological-phenotype
#11
Onofrio Antonio Catalano, Gary Lloyd Horn, Alberto Signore, Carlo Iannace, Maria Lepore, Mark Vangel, Angelo Luongo, Marco Catalano, Constance Lehman, Marco Salvatore, Andrea Soricelli, Ciprian Catana, Umar Mahmood, Bruce Robert Rosen
BACKGROUND: Differences in genetics and receptor expression (phenotypes) of invasive ductal breast cancer (IDC) impact on prognosis and treatment response. Immunohistochemistry (IHC), the most used technique for IDC phenotyping, has some limitations including its invasiveness. We explored the possibility of contrast-enhanced positron emission tomography magnetic resonance (CE-FDG PET/MR) to discriminate IDC phenotypes. METHODS: 21 IDC patients with IHC assessment of oestrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor-2 (HER2), and antigen Ki-67 (Ki67) underwent CE-FDG PET/MR...
February 16, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28205521/genetically-encoded-bioluminescent-voltage-indicator-for-multi-purpose-use-in-wide-range-of-bioimaging
#12
Shigenori Inagaki, Hidekazu Tsutsui, Kazushi Suzuki, Masakazu Agetsuma, Yoshiyuki Arai, Yuka Jinno, Guirong Bai, Matthew J Daniels, Yasushi Okamura, Tomoki Matsuda, Takeharu Nagai
We report development of the first genetically encoded bioluminescent indicator for membrane voltage called LOTUS-V. Since it is bioluminescent, imaging LOTUS-V does not require external light illumination. This allows bidirectional optogenetic control of cellular activity triggered by Channelrhodopsin2 and Halorhodopsin during voltage imaging. The other advantage of LOTUS-V is the robustness of a signal-to-background ratio (SBR) wherever it expressed, even in the specimens where autofluorescence from environment severely interferes fluorescence imaging...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28203518/inositol-1-4-5-trisphosphate-receptor-determines-intracellular-ca-2-concentration-in-trypanosoma-cruzi-throughout-its-life-cycle
#13
Muneaki Hashimoto, Motomichi Doi, Nagomi Kurebayashi, Koji Furukawa, Hiroko Hirawake-Mogi, Yoshihiro Ohmiya, Takashi Sakurai, Toshihiro Mita, Katsuhiko Mikoshiba, Takeshi Nara
Regulation of intracellular Ca(2+) concentration ([Ca(2+)]i) is vital for eukaryotic organisms. Recently, we identified a Ca(2+) channel (TcIP 3R) associated with intracellular Ca(2+) stores in Trypanosoma cruzi, the parasitic protist that causes Chagas disease. In this study, we measured [Ca(2+)]i during the parasite life cycle and determined whether TcIP 3R is involved in the observed variations. Parasites expressing R-GECO1, a red fluorescent, genetically encoded Ca(2+) indicator for optical imaging that fluoresces when bound to Ca(2+), were produced...
December 2016: FEBS Open Bio
https://www.readbyqxmd.com/read/28203264/a-pilot-study-exploring-the-association-of-morphological-changes-with-5-httlpr-polymorphism-in-ocd-patients
#14
Shinichi Honda, Tomohiro Nakao, Hiroshi Mitsuyasu, Kayo Okada, Leo Gotoh, Mayumi Tomita, Hirokuni Sanematsu, Keitaro Murayama, Keisuke Ikari, Masumi Kuwano, Takashi Yoshiura, Hiroaki Kawasaki, Shigenobu Kanba
BACKGROUND: Clinical and pharmacological studies of obsessive-compulsive disorder (OCD) have suggested that the serotonergic systems are involved in the pathogenesis, while structural imaging studies have found some neuroanatomical abnormalities in OCD patients. In the etiopathogenesis of OCD, few studies have performed concurrent assessment of genetic and neuroanatomical variables. METHODS: We carried out a two-way ANOVA between a variable number of tandem repeat polymorphisms (5-HTTLPR) in the serotonin transporter gene and gray matter (GM) volumes in 40 OCD patients and 40 healthy controls (HCs)...
2017: Annals of General Psychiatry
https://www.readbyqxmd.com/read/28203254/malformations-of-cortical-development-genetic-mechanisms-and-diagnostic-approach
#15
REVIEW
Jeehun Lee
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events...
January 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28203206/mild-and-short-term-caloric-restriction-prevents-obesity-induced-cardiomyopathy-in-young-zucker-rats-without-changing-in-metabolites-and-fatty-acids-cardiac-profile
#16
Gema Ruiz-Hurtado, Concha F García-Prieto, Helena Pulido-Olmo, Juan P Velasco-Martín, Palmira Villa-Valverde, María E Fernández-Valle, Lisardo Boscá, María Fernández-Velasco, Javier Regadera, Beatriz Somoza, María S Fernández-Alfonso
Caloric restriction (CR) ameliorates cardiac dysfunction associated with obesity. However, most of the studies have been performed under severe CR (30-65% caloric intake decrease) for several months or even years in aged animals. Here, we investigated whether mild (20% food intake reduction) and short-term (2-weeks) CR prevented the obese cardiomyopathy phenotype and improved the metabolic profile of young (14 weeks of age) genetically obese Zucker fa/fa rats. Heart weight (HW) and HW/tibia length ratio was significantly lower in fa/fa rats after 2 weeks of CR than in counterparts fed ad libitum...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28202707/cadasil-accelerated-by-acute-hypotension-arterial-and-venous-contribution-to-leukoaraiosis
#17
Jacqueline A Pettersen, Julia Keith, Fuqiang Gao, J David Spence, Sandra E Black
OBJECTIVE: To underline the importance of blood pressure regulation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to describe changes that occur in the veins in this condition, specifically venous collagenosis associated with leukoaraiosis. METHODS: Case report with neuroimaging and pathologic data. RESULTS: A 61-year-old man with genetically confirmed CADASIL was initially lucid following a motor vehicle accident but subsequently became hypotensive (60/40 mm Hg) due to an open femur fracture and required intubation...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#18
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28202203/female-specific-effect-of-the-bdnf-gene-on-alzheimer-s-disease
#19
Guo-Dong Li, Rui Bi, Deng-Feng Zhang, Min Xu, Rongcan Luo, Dong Wang, Yiru Fang, Tao Li, Chen Zhang, Yong-Gang Yao
Alzheimer's disease (AD) is the most common neurodegenerative disease influenced by genetic and environmental factors. Brain-derived neurotrophic factor (BDNF) plays an important role in the progression of AD, but the genetic association between BDNF and AD remains controversial. In this study, we aimed to explore the potential association between genetic variants in BDNF and AD in Han Chinese and to investigate whether the association is affected by gender. A 3-stage study was conducted to evaluate the genetic association between BDNF and AD...
January 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#20
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
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