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https://www.readbyqxmd.com/read/28435787/high-grade-mucinous-urothelial-carcinoma-of-the-renal-collecting-system-a-case-report
#1
Priyanka Kancherla, John F Sullivan, Jyoti D Chouhan, Zachary Feuer, Daniel Diaz, Qiang Xie, Patrick Hammill, Brian K McNeil
High grade mucinous urothelial carcinoma is a rare pathological variant. There is still controversy as to its nomenclature and classification. We report the case of a 64 year old female with history of pelvic pain who was incidentally discovered to have a left upper pole renal mass. Left nephroureterectomy was performed and histopathological examination revealed high grade mucinous urothelial carcinoma. Accurate diagnosis of this distinct pathological entity will allow for better understanding of phenotypic behavior and inform best treatment strategies...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28432988/comprehension-of-concrete-and-abstract-words-in-semantic-variant-primary-progressive-aphasia-and-alzheimer-s-disease-a-behavioral-and-neuroimaging-study
#2
Sven Joubert, Guillaume T Vallet, Maxime Montembeault, Mariem Boukadi, Maximiliano A Wilson, Robert Jr Laforce, Isabelle Rouleau, Simona M Brambati
The aim of this study was to investigate the comprehension of concrete, abstract and abstract emotional words in semantic variant primary progressive aphasia (svPPA), Alzheimer's disease (AD), and healthy elderly adults (HE) Three groups of participants (9 svPPA, 12 AD, 11 HE) underwent a general neuropsychological assessment, a similarity judgment task, and structural brain MRI. The three types of words were processed similarly in the group of AD participants. In contrast, patients in the svPPA group were significantly more impaired at processing concrete words than abstract words, while comprehension of abstract emotional words was in between...
April 19, 2017: Brain and Language
https://www.readbyqxmd.com/read/28430294/grn-mutation-in-a-patient-with-a-behavioral-variant-of-frontotemporal-lobar-degeneration-bvftd
#3
Sylwia Walczysková, Pavel Ressner, Šárka Hilscherová, Jaroslav Kotlas, Jiří Konrád, Věnceslava Svobodová
<i>The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28429716/polyembryoma-of-the-testis-a-report-of-two-cases-dominant-within-mixed-germ-cell-tumors-and-review-of-gonadal-polyembryomas
#4
REVIEW
Jennifer N Stall, Robert H Young
Two testicular mixed germ cell tumors, from men of 21 and 41 years, in which polyembryoma predominated are described. A literature review uncovered an additional five testicular and nine ovarian cases. One tumor occurred in a 60-year-old man, but all others occurred within the typical age range of gonadal germ cell tumors. One male presented with gynecomastia and one female with sexual precocity, but all otherwise had standard clinical manifestations. These tumors are typically large with non-specific gross features, but a few have a prominent hemorrhagic appearance...
April 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28429517/primary-laryngeal-sarcomas-in-a-mexican-population-case-series-of-eleven-cases
#5
Kuauhyama Luna-Ortiz, Sarina Navarro-Santiesteban, Veronica Villavicencio-Valencia, Rosa A Salcedo-Hernandez, Leonardo S Lino-Silva, Juan A Delgado
Sarcomas are mesenchymal tumors that represent 1% of malignant diseases in humans. Of these, 4-10% occur in the head and neck and only <1% occur in the larynx.(1) These groups of neoplasms have a wide range of histological variants and, accordingly, their clinical behavior varies widely, from slow-growing, relatively circumscribed tumors, to rapidly growing, locally invasive malignancies. In addition, the heterogeneity of the location of the laryngeal anatomic sub-sites require special therapeutic considerations...
April 21, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28425432/angiogenic-and-lymphangiogenic-profiles-in-histological-variants-of-papillary-thyroid-carcinoma
#6
Vesna Skuletic, Gordana D Radosavljevic, Jelena Pantic, Bojana Simovic Markovic, Ivan Jovanovic, Nikola Jankovic, Dusica Petrovic, Andra Jevtovic, Radan Dzodic, Nebojsa Arsenijevic
INTRODUCTION    Papillary thyroid carcinoma (PTC) is a well-differentiated tumor that occurs in several histological variants whose biological behaviors remain unclear. Angiogenesis and lymphangiogenesis are critical processes that enable tumor progression.  OBJECTIVES    The purpose of this study was to evaluate the angiogenic and lymphangiogenic phenotypes of PTC considering the differences between histological variants. PATIENTS AND METHODS    Angiogenic and lymphangiogenic profiles were analyzed by microvascular density (MVD) and lymphovascular density (LVD) determination in 73 cases of PTC using immunohistochemistry...
April 20, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28423715/a-functional-variant-at-the-mirna-binding-site-in-hmgb1-gene-is-associated-with-risk-of-oral-squamous-cell-carcinoma
#7
Chiao-Wen Lin, Ying-Erh Chou, Chia-Ming Yeh, Shun-Fa Yang, Chun-Yi Chuang, Yu-Fan Liu
Oral squamous cell carcinoma (OSCC) is a common malignancy that has been causally associated with both hereditary and acquired factors. The high mobility group box 1 (HMGB1) gene plays an important role as a DNA chaperone to help maintain nuclear homeostasis. Altered expression of HMGB1 has been implicated in a wide range of pathological processes, including inflammation and cancer. The present study explores the impact of HMGB1 gene polymorphisms, combined with environmental risks regarding susceptibility to oral tumorigenesis...
March 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423545/hobnail-variant-of-papillary-thyroid-carcinoma-molecular-profiling-and-comparison-to-classical-papillary-thyroid-carcinoma-poorly-differentiated-thyroid-carcinoma-and-anaplastic-thyroid-carcinoma
#8
Lianghong Teng, Wanglong Deng, Junliang Lu, Jing Zhang, Xinyu Ren, Huanli Duan, Shannon Chuai, Feidie Duan, Wei Gao, Tao Lu, Huanwen Wu, Zhiyong Liang
BACKGROUND: As a rare but aggressive papillary thyroid carcinoma (PTC) variant, the genetic changes of hobnail variant of PTC (HVPTC) are still unclear. RESULTS: The prevalence of HVPTC was 1.69% (18/1062) of all PTC diagnosed in our cohort. 73 samples from 55 patients (17 HVPTC, 26 CPTC, 7 PDTC and 5 ATC) were successfully analyzed using targeted NGS with an 18-gene panel. Thirty-seven mutation variant types were identified among 11 genes. BRAF V600E mutation was the most common mutation, which is present in almost all HVPTC samples (16/17, 94%), most CPTC samples (20/26, 77%), and none of the ATC and PDTC samples...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423504/variations-in-the-bitterness-perception-related-genes-tas2r38-and-ca6-modify-the-risk-for-colorectal-cancer-in-koreans
#9
Jeong-Hwa Choi, Jeonghee Lee, Jae Hwan Oh, Hee Jin Chang, Dae Kyung Sohn, Aesun Shin, Jeongseon Kim
Bitterness perception is known to be an important factor in individuals' dietary behaviors and is also associated with the sensing of nutritious/noxious molecules for subsequent metabolic responses in multiple organs. Therefore, the genetic variation in bitterness sensing may be associated with diet-related diseases, including colorectal cancer (CRC). We investigated the influence of variations in the bitterness-sensing genes taste receptor type 2 member 38 (TAS2R38) and carbonic anhydrase 6 (CA6) on the consumption of food, tobacco and alcohol and the risk of CRC in Koreans...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#10
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28420457/are-impairments-in-emotion-recognition-a-core-feature-of-callous-unemotional-traits-testing-the-primary-versus-secondary-variants-model-in-children
#11
Mark R Dadds, Eva R Kimonis, Olivia Schollar-Root, Caroline Moul, David J Hawes
The role of environmental adversity in the development of high callous-unemotional (CU) traits in children is controversial. Evidence speaks to the traits being largely independent of adversity; however, recent data shows that those with high CU traits and high adversity and/or high anxiety might differ in important ways from those with no such history. We tested this using emotion recognition (ER) skills. We tested whether maltreatment history and anxiety levels moderated the relationship between level of CU traits and ER skills in N = 364 children with behavioral problems who were 3 to 16 years old...
April 19, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28419762/hobnail-variant-of-papillary-thyroid-carcinoma-a-case-with-an-unusual-presentation
#12
Mohammed T Lilo, Justin A Bishop, Syed Z Ali
Variants of papillary thyroid carcinoma (PTC) account for up to 25% of the cases, some of which are proven to be associated with aggressive clinical behavior such as tall cell and columnar cell variants. Hobnail variant of PTC (HVPTC) is recently described as a rare and aggressive variant of PTC. Herein, we are reporting a case of HVPTC in a patient who presented with hemoptysis and an intratracheal blood clot that was aspirated and submitted for cytopathological examination. Cytomorphology displayed neoplastic cells with profound micropapillary architecture, elongated nuclei, and prominent hobnail configuration...
April 16, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28418993/solid-papillary-breast-carcinomas-resembling-the-tall-cell-variant-of-papillary-thyroid-neoplasms-a-unique-invasive-tumor-with-indolent-behavior
#13
Maria P Foschini, Sofia Asioli, Susan Foreid, Gabor Cserni, Ian O Ellis, Vincenzo Eusebi, Juan Rosai
Thirteen cases of invasive solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (BPTC) are reported here. Some cases had long-term follow-up. BPTC is a special type of primary breast neoplasm showing a triple-negative profile but low aggressive potential. Knowledge on BPTC is still scanty; therefore, the aim of the present paper was to report on the features of an additional 13 cases. All the patients were female individuals, and the mean age at presentation was 62...
April 17, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28418682/mesoscale-simulation-and-machine-learning-of-asphaltene-aggregation-phase-behavior-and-molecular-assembly-landscapes
#14
Jiang Wang, Mohit Gayatri, Andrew L Ferguson
Asphaltenes constitute the heaviest fraction of the aromatic group in crude oil. Aggregation and precipitation of asphaltenes during petroleum processing costs the petroleum industry billions of dollars each year due to downtime and production inefficiencies. Asphaltene aggregation proceeds via a hierarchical self-assembly process that is well-described by the Yen-Mullins model. Nevertheless, the microscopic details of the emergent cluster morphologies and their relative stability under different processing conditions remain poorly understood...
April 18, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28418030/the-bmp2-nuclear-variant-nbmp2-is-expressed-in-mouse-hippocampus-and-impacts-memory
#15
Ryan D Cordner, Lindsey N Friend, Jaime L Mayo, Corinne Badgley, Andrew Wallmann, Conrad N Stallings, Peter L Young, Darla R Miles, Jeffrey G Edwards, Laura C Bridgewater
The novel nuclear protein nBMP2 is synthesized from the BMP2 gene by translational initiation at an alternative start codon. We generated a targeted mutant mouse, nBmp2NLS(tm), in which the nuclear localization signal (NLS) was inactivated to prevent nuclear translocation of nBMP2 while still allowing the normal synthesis and secretion of the BMP2 growth factor. These mice exhibit abnormal muscle function due to defective Ca(2+) transport in skeletal muscle. We hypothesized that neurological function, which also depends on intracellular Ca(2+) transport, could be affected by the loss of nBMP2...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28413716/data-driven-regions-of-interest-for-longitudinal-change-in-three-variants-of-frontotemporal-lobar-degeneration
#16
COMPARATIVE STUDY
Richard J Binney, Aleksandr Pankov, Gabriel Marx, Xuanzie He, Faye McKenna, Adam M Staffaroni, John Kornak, Suneth Attygalle, Adam L Boxer, Norbert Schuff, Maria-Luisa Gorno-Tempini, Michael W Weiner, Joel H Kramer, Bruce L Miller, Howard J Rosen
INTRODUCTION: Longitudinal imaging of neurodegenerative disorders is a potentially powerful biomarker for use in clinical trials. In Alzheimer's disease, studies have demonstrated that empirically derived regions of interest (ROIs) can provide more reliable measurement of disease progression compared with anatomically defined ROIs. METHODS: We set out to derive ROIs with optimal effect size for quantifying longitudinal change in a hypothetical clinical trial by comparing atrophy rates in 44 patients with behavioral variant of frontotemporal dementia (bvFTD), 30 with the semantic variant primary progressive aphasia (svPPA), and 26 with the nonfluent variant PPA (nfvPPA) to atrophy in 97 cognitively healthy controls...
April 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28413707/disrupting-dorsolateral-prefrontal-cortex-by-rtms-reduces-the-p300-based-marker-of-deception
#17
Inga Karton, Talis Bachmann
OBJECTIVE: Quite many studies have revealed certain brain-process signatures indicative of subject's deceptive behavior. These signatures are neural correlates of deception. However, much less is known about whether these signatures can be modified by noninvasive brain stimulation techniques representing methods of causal intervention of brain processes and the corresponding behavior. Our purpose was to explore whether such methods have an effect on these signatures. METHODS: It is well known that electroencephalographic event-related potential component, P300, is sensitive to perception of critical items in a concealed information test, one of the central methods in deception studies...
April 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28410663/frontotemporal-dementia
#18
REVIEW
Nicholas T Olney, Salvatore Spina, Bruce L Miller
Frontotemporal dementia (FTD) is a heterogeneous disorder with distinct clinical phenotypes associated with multiple neuropathologic entities. Presently, the term FTD encompasses clinical disorders that include changes in behavior, language, executive control, and often motor symptoms. The core FTD spectrum disorders include behavioral variant FTD, nonfluent/agrammatic variant primary progressive aphasia, and semantic variant PPA. Related FTD disorders include frontotemporal dementia with motor neuron disease, progressive supranuclear palsy syndrome, and corticobasal syndrome...
May 2017: Neurologic Clinics
https://www.readbyqxmd.com/read/28409245/snca-3-utr-genetic-variants-in-patients-with-parkinson-s-disease-and-rem-sleep-behavior-disorder
#19
M Toffoli, E Dreussi, E Cecchin, M Valente, N Sanvilli, M Montico, S Gagno, M Garziera, M Polano, M Savarese, G Calandra-Buonaura, F Placidi, M Terzaghi, G Toffoli, G L Gigli
REM sleep behavior disorder (RBD) is an early marker of Parkinson's disease (PD); however, it is still unclear which patients with RBD will eventually develop PD. Single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of alpha-synuclein (SNCA) have been associated with PD, but at present, no data is available about RBD. The 3'UTR hosts regulatory regions involved in gene expression control, such as microRNA binding sites. The aim of this study was to determine RBD specific genetic features associated to an increased risk of progression to PD, by sequencing of the SNCA-3'UTR in patients with "idiopathic" RBD (iRBD) and in patients with PD...
April 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#20
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
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