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https://www.readbyqxmd.com/read/29453609/leptin-receptor-gene-a-g-polymorphism-rs1137101-and-renal-cell-carcinoma
#1
Azza M Abdu Allah, Sally M El-Hefnway, Alshimaa M Alhanafy, Ahmed M Zahran, Heba E Kasem
Leptin plays an important role in carcinogenesis as leptin/leptin receptor signaling promotes the angiogenesis, proliferation, and inhibits epithelial cell apoptosis. Variants in the leptin receptor gene have potential associations with renal cell carcinoma (RCC). We aimed to investigate association of rs1137101 (A/G) polymorphism at LEPR gene with risk of RCC and patients survival. 123 individuals were classified into group I: 73 RCC patients and group II: 50 healthy controls. Genotyping of the Gln223Arg (A/G) polymorphism rs1137101 at LEPR gene was analyzed using allelic discrimination assay by Real-Time PCR technique...
February 16, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29453245/early-vs-late-age-at-onset-frontotemporal-dementia-and-frontotemporal-lobar-degeneration
#2
Sang Won Seo, Marie-Pierre Thibodeau, David C Perry, Alice Hua, Manu Sidhu, Isabel Sible, Jose Norberto S Vargas, Stephanie E Gaus, Gil D Rabinovici, Katherine D Rankin, Adam L Boxer, Joel H Kramer, Howard J Rosen, Maria Luisa Gorno-Tempini, Lea T Grinberg, Eric J Huang, Stephen J DeArmond, John Q Trojanowski, Bruce L Miller, William W Seeley
OBJECTIVE: To examine clinicopathologic correlations in early vs late age at onset frontotemporal dementia (FTD) and frontotemporal lobar degeneration (FTLD). METHODS: All patients were clinically evaluated and prospectively diagnosed at the UCSF Memory and Aging Center. Two consecutive series were included: (1) patients with a clinically diagnosed FTD syndrome who underwent autopsy (cohort 1) and (2) patients with a primary pathologic diagnosis of FTLD, regardless of the clinical syndrome (cohort 2)...
February 16, 2018: Neurology
https://www.readbyqxmd.com/read/29453244/white-matter-change-with-apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#3
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
OBJECTIVE: To identify the white matter correlates of apathy and impulsivity in the major syndromes associated with frontotemporal lobar degeneration, using diffusion-weighted imaging and data from the PiPPIN (Pick's Disease and Progressive Supranuclear Palsy: Prevalence and Incidence) study. We included behavioral and language variants of frontotemporal dementia, corticobasal syndrome, and progressive supranuclear palsy. METHODS: Seventy patients and 30 controls underwent diffusion tensor imaging at 3-tesla after detailed assessment of apathy and impulsivity...
February 16, 2018: Neurology
https://www.readbyqxmd.com/read/29452463/autosomal-dominant-mannose-binding-lectin-deficiency-is-associated-with-worse-neurodevelopmental-outcomes-after-cardiac-surgery-in-infants
#4
Daniel Seung Kim, Yatong K Li, Jerry H Kim, Curtis S Bergquist, Marsha Gerdes, Judy C Bernbaum, Nancy Burnham, Donna M McDonald-McGinn, Elaine H Zackai, Susan C Nicolson, Thomas L Spray, Deborah A Nickerson, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
OBJECTIVES: The MBL2 gene is the major genetic determinant of mannose-binding lectin (MBL)-an acute phase reactant. Low MBL levels have been associated with adverse outcomes in preterm infants. The MBL2 Gly54Asp missense variant causes autosomal dominant MBL deficiency. We tested the hypothesis that MBL2 Gly54Asp is associated with worse neurodevelopmental outcomes after cardiac surgery in neonates. METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295)...
March 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29450424/cd44v6-increases-gastric-cancer-malignant-phenotype-by-modulating-adipose-stromal-cell-mediated-ecm-remodeling
#5
Bianca N Lourenço, Nora L Springer, Daniel Ferreira, Carla Oliveira, Pedro L Granja, Claudia Fischbach
CD44, an abundantly expressed adhesion molecule, and its alternative splice variants have been associated with tumorigenesis and metastasis. In the context of gastric cancer (GC), de novo expression of CD44 variant 6 (CD44v6) is found in more than 60% of GCs, but its role in the pathogenesis and progression of this type of cancer remains unclear. Using a combination of media conditioning experiments and decellularized extracellular matrices (ECMs), this study investigates the hypothesis that CD44v6 overexpression enhances tumor cell malignant behavior by modulating stromal cell-mediated ECM remodeling...
February 16, 2018: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/29449896/myxofibrosarcoma-primary-cultures-molecular-and-pharmacological-profile
#6
Alessandro De Vita, Federica Recine, Laura Mercatali, Giacomo Miserocchi, Chiara Liverani, Chiara Spadazzi, Roberto Casadei, Alberto Bongiovanni, Federica Pieri, Nada Riva, Dino Amadori, Toni Ibrahim
Background: Myxofibrosarcoma (MFS), formerly considered as a myxoid variant of malignant fibrous histiocytoma, is the most common sarcoma of the extremities in adults and is characterized by a high frequency of local recurrence. The clinical behavior of MFS is unpredictable and the efficacy of chemotherapy is still not well documented. Furthermore, given the relatively recent recognition of MFS as a distinct pathologic entity its cellular and molecular biology has still not been extensively studied in patient-derived preclinical models...
December 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/29447357/analysis-of-cluster-randomized-test-negative-designs-cluster-level-methods
#7
Nicholas P Jewell, Suzanne Dufault, Zoe Cutcher, Cameron P Simmons, Katherine L Anders
Intervention trials of vector control methods often require community level randomization with appropriate inferential methods. For many interventions, the possibility of confounding due to the effects of health-care seeking behavior on disease ascertainment remains a concern. The test-negative design, a variant of the case-control method, was introduced to mitigate this issue in the assessment of the efficacy of influenza vaccination (measured at an individual level) on influenza infection. Here, we introduce a cluster-randomized test-negative design that includes randomization of the intervention at a group level...
February 12, 2018: Biostatistics
https://www.readbyqxmd.com/read/29446856/thyroid-carcinoma-producing-%C3%AE-human-chorionic-gonadotropin-shows-different-clinical-behavior
#8
Haiyan Gu, Shaofeng Sui, Xiujie Cui, Bo Han, Chunyan Zhang, Mei Qi, Congcong Li, Zhiyan Liu
Columnar cell variant of papillary thyroid carcinoma (CCV-PTC) is an unusual neoplasm, the clinical behavior of which mainly depends on the encapsulation or infiltration. Patients with extensive extrathyroidal extension usually have an aggressive biological behavior. This study confirmed that beta-human chorionic gonadotropin (β-hCG) secreting invasive CCV-PTC has good prognosis comparing with a cohort of follicular cell differentiated thyroid carcinoma. On the contrary, positive immunoreaction with β-hCG was proved in three anaplastic thyroid carcinoma patients showing aggressive clinical courses...
February 15, 2018: Pathology International
https://www.readbyqxmd.com/read/29444620/differential-anxiety-like-responses-in-nod-shiltj-and-c57bl-6j-mice-following-experimental-autoimmune-encephalomyelitis-induction-and-oral-gavage
#9
Pece Kocovski, Phuc T Dang, Claretta S D'Souza, Christopher E Stamper, Matthew W Hale, Jacqueline M Orian
Oral gavage is commonly used in pre-clinical drug evaluation, but is potentially aversive and may induce behavioral effects independent of compounds under investigation. This study examined the combined effects of repeated oral gavage and disease induction on anxiety-like behavior in the experimental autoimmune encephalomyelitis (EAE) model of multiple sclerosis. The C57BL/6J and NOD/ShiLtJ EAE variants were exposed to sham-EAE induction or untreated control conditions, and either daily oral gavage or home cage conditions...
January 1, 2018: Laboratory Animals
https://www.readbyqxmd.com/read/29441012/a-modified-reading-the-mind-in-the-eyes-test-predicts-behavioral-variant-frontotemporal-dementia-better-than-executive-function-tests
#10
Matthias L Schroeter, Sarah Pawelke, Sandrine Bisenius, Jana Kynast, Katharina Schuemberg, Maryna Polyakova, Sarah Anderl-Straub, Adrian Danek, Klaus Fassbender, Holger Jahn, Frank Jessen, Johannes Kornhuber, Martin Lauer, Johannes Prudlo, Anja Schneider, Ingo Uttner, Angelika Thöne-Otto, Markus Otto, Janine Diehl-Schmid
Behavioral variant frontotemporal dementia (bvFTD) is characterized by deep alterations in behavior and personality. Although revised diagnostic criteria agree for executive dysfunction as most characteristic, impairments in social cognition are also suggested. The study aimed at identifying those neuropsychological and behavioral parameters best discriminating between bvFTD and healthy controls. Eighty six patients were diagnosed with possible or probable bvFTD according to Rascovsky et al. (2011) and compared with 43 healthy age-matched controls...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29440993/increasing-agrin-function-antagonizes-muscle-atrophy-and-motor-impairment-in-spinal-muscular-atrophy
#11
Marina Boido, Elena De Amicis, Valeria Valsecchi, Marco Trevisan, Ugo Ala, Markus A Ruegg, Stefan Hettwer, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a pediatric genetic disease, characterized by motor neuron (MN) death, leading to progressive muscle weakness, respiratory failure, and, in the most severe cases, to death. Abnormalities at the neuromuscular junction (NMJ) have been reported in SMA, including neurofilament (NF) accumulation at presynaptic terminals, immature and smaller than normal endplates, reduced transmitter release, and, finally, muscle denervation. Here we have studied the role of agrin in SMAΔ7 mice, the experimental model of SMAII...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29438114/validity-and-reliability-of-the-frontotemporal-dementia-rating-scale-ftd-frs-for-the-progression-and-staging-of-dementia-in-brazilian-patients
#12
Thaís B Lima-Silva, Valéria S Bahia, Mário A Cecchini, Luciana Cassimiro, Henrique C Guimarães, Leandro B Gambogi, Paulo Caramelli, Márcio Balthazar, Benito Damasceno, Sônia M D Brucki, Leonardo C de Souza, Ricardo Nitrini, Eneida Mioshi, Mônica S Yassuda
INTRODUCTION: Few studies on instruments for staging frontotemporal dementia (FTD) have been conducted. OBJECTIVE: The objective of this study was to analyze the factor structure, internal consistency, reliability, and convergent validity of the Brazilian version of the Frontotemporal Dementia Rating Scale (FTD-FRS). METHODS: A total of 97 individuals aged 40 years and above with >2 years' education took part in the study, 31 patients diagnosed with behavioral variant FTD (bvFTD), 8 patients with primary progressive aphasia, 28 with Alzheimer disease, 8 with mild cognitive impairment, and a control group of 22 healthy subjects...
February 13, 2018: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/29436774/oxytocin-structure-and-function-in-new-world-monkeys-from-pharmacology-to-behavior
#13
Aaryn Mustoe, Jack H Taylor, Jeffrey A French
Oxytocin (OT) is a hypothalamic nonapeptide that mediates a host of physiological and behavioral processes including reproductive physiology and social attachments. While the OT sequence structure is highly conserved among mammals, New World monkeys (NWMs) represent an unusual 'hot spot' in OT structure variability among mammals. At least six distinct OT ligand variants among NWMs exist, yet it is currently unclear whether these evolved structural changes result in meaningful functional consequences. NWMs offer a new area to explore how these modifications to OT and its canonical G-protein coupled OT receptor (OTR) may mediate specific cellular, physiological, and behavioral outcomes...
February 13, 2018: Integrative Zoology
https://www.readbyqxmd.com/read/29435219/medullary-like-hepatocellular-carcinoma
#14
Alessandra Cristaudi, Jessica Barizzi, Raffaele Rosso, Marco Varini, Mario Alerci, Laura Rubbia Brandt, Pietro Majno, Ruben Carlo Balzarotti Canger
Hepatocellular carcinoma (HCC) is the most frequent primary hepatic cancer. Pathological features can define the biological behavior and prognosis. Medullary-like HCC is a very rare variant that has been described only twice in literature. In the present study, we report the case of a non-cirrhotic 72-year-old man, who presented two HCC lesions on routine screening for hepatitis C virus liver disease. Radiological imaging and biopsy showed two different subtypes: one classic HCC, which was treated with chemoembolization, and a second PET/CT-positive carcinoma with a PET/CT-positive metastatic coeliac lymph node, which was resected laparoscopically with a left lateral sectionectomy and extended lymphadenectomy...
February 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29429049/implication-of-genes-for-the-n-methyl-d-aspartate-nmda-receptor-in-substance-addictions
#15
REVIEW
Jiali Chen, Yunlong Ma, Rongli Fan, Zhongli Yang, Ming D Li
Drug dependence is a chronic brain disease with harmful consequences for both individual users and society. Glutamate is a primary excitatory neurotransmitter in the brain, and both in vivo and in vitro experiments have implicated N-methyl-D-aspartate (NMDA) receptor, a glutamate receptor, as an element in various types of addiction. Recent findings from genetics-based approaches such as genome-wide linkage, candidate gene association, genome-wide association (GWA), and next-generation sequencing have demonstrated the significant association of NMDA receptor subunit genes such as GluN3A, GluN2B, and GluN2A with various addiction-related phenotypes...
February 10, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29427787/znf462-and-klf12-are-disrupted-by-a-de-novo-translocation-in-a-patient-with-syndromic-intellectual-disability-and-autism-spectrum-disorder
#16
Nele Cosemans, Laura Vandenhove, Jarymke Maljaars, Hilde Van Esch, Koenraad Devriendt, Amanda Baldwin, Jean-Pierre Fryns, Ilse Noens, Hilde Peeters
We describe a patient with a de novo balanced translocation 46,XY,t(9; 13)(q31.2; q22.1) and autism spectrum disorder, intellectual disability, a metopic craniosynostosis, a corpus callosum dysgenesis and dysmorphic facial features, most notably ptosis. Breakpoint mapping was performed by means of targeted locus amplification (TLA) and sequencing, because conventional breakpoint mapping by means of fluorescent in situ hybridization and long-range PCR was hampered by a complex submicroscopic rearrangement. The translocation breakpoints directly affected the genes KLF12 (chromosome 13) and ZNF462 (chromosome 9)...
February 7, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29423971/two-de-novo-novel-mutations-in-one-shank3-allele-in-a-patient-with-autism-and-moderate-intellectual-disability
#17
Wenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia Braxton, Christine M Eng, Yaping Yang, Fan Xia, Kory L Keller, Leila Okinaka-Hu, Chung Lee, J Lloyd Holder, Weimin Bi
SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14-year-old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias...
February 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29423814/connectivity-based-characterisation-of-subcortical-grey-matter-pathology-in-frontotemporal-dementia-and-als-a-multimodal-neuroimaging-study
#18
Peter Bede, Taha Omer, Eoin Finegan, Rangariroyashe H Chipika, Parameswaran M Iyer, Mark A Doherty, Alice Vajda, Niall Pender, Russell L McLaughlin, Siobhan Hutchinson, Orla Hardiman
Frontotemporal dementia (FTD) phenotypes have distinctive and well-established cortical signatures, but their subcortical grey matter profiles are poorly characterised. The comprehensive characterisation of striatal and thalamic pathology along the ALS-FTD spectrum is particularly timely, as dysfunction of frontostriatal and cortico-thalamic networks contribute to phenotype-defining cognitive, behavioral, and motor deficits. Ten patients with behavioral-variant FTD, 11 patients with non-fluent-variant primary progressive aphasia, 5 patients with semantic-variant primary progressive aphasia, 14 ALS-FTD patients with C9orf72 hexanucleotide expansions, 12 ALS-FTD patients without hexanucleotide repeats, 36 ALS patients without cognitive impairment and 50 healthy controls were included in a prospective neuroimaging study...
February 8, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29414762/peptide-level-turnover-measurements-enable-the-study-of-proteoform-dynamics
#19
Jana Zecha, Chen Meng, Daniel Paul Zolg, Patroklos Samaras, Mathias Wilhelm, Bernhard Kuster
The coordination of protein synthesis and degradation regulating protein abundance is a fundamental process in cellular homeostasis. Today, mass spectrometry-based technologies allow determination of endogenous protein turnover on a proteome-wide scale. However, standard dynamic SILAC (Stable Isotope Labeling in Cell Culture) approaches can suffer from missing data across pulse time-points limiting the accuracy of such analysis. This issue is of particular relevance when studying protein stability at the level of proteoforms because often only single peptides distinguish between different protein products of the same gene...
February 2, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29413524/mu-opioid-pharmacology-40-years-to-the-promised-land
#20
Gavril W Pasternak
Opioids continue to play a major role in medicine, but not without problems. Side effects limit their utility medically, while the potential of addiction has had a major societal impact. Pharmacologists have been trying to develop opioids lacking side effects since the first derivative, heroin, was synthesized in the 1870s. The identification of opioid receptors about 40 years ago opened up new insights into our understanding of opioid action, fueled by the molecular biology revolution of the 1980s and 1990s...
2018: Advances in Pharmacology
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