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https://www.readbyqxmd.com/read/28212550/plcb4-copy-gain-and-plc%C3%A3-4-overexpression-in-primary-gastrointestinal-stromal-tumors-integrative-characterization-of-a-lipid-catabolizing-enzyme-associated-with-worse-disease-free-survival
#1
Chien-Feng Li, Ting-Ting Liu, I-Chieh Chuang, Yen-Yang Chen, Fu-Min Fang, Ti-Chun Chan, Wan-Shan Li, Hsuan-Ying Huang
To explore the implications of lipid catabolism-associated genes in gastrointestinal stromal tumors, we reappraised transcriptomic and genomic datasets and identified copy-gained and differentially upregulated PLCB4 gene associated with tumor progression. On full sections, PLCB4 mRNA abundance and PLCß4 immunoexpression were validated in 70 cases. On tissue microarrays, PLCB4 gene copies and PLCß4 immunoexpression were both informative in 350 cases with KIT/PDGFRA/BRAF genotypes noted in 213. In GIST48 cell line, we stably silenced PLCB4 and YAP1 to characterize their functional effects and regulatory link...
February 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212407/epidemiology-of-low-proteinuric-chronic-kidney-disease-in-renal-clinics
#2
Luca De Nicola, Michele Provenzano, Paolo Chiodini, Silvio Borrelli, Luigi Russo, Antonio Bellasi, Domenico Santoro, Giuseppe Conte, Roberto Minutolo
CKD patients with low-grade proteinuria (LP) are common in nephrology clinics. However, prevalence, characteristics, and the competing risks of ESRD and death as the specific determinants, are still unknown. We analyzed epidemiological features of LP status in a prospective cohort of 2,340 patients with CKD stage III-V referred from ≥6 months in 40 nephrology clinics in Italy. LP status was defined as proteinuria <0.5 g/24h according to current KDIGO guidelines. Patients with higher proteinuria constituted the control group (CON)...
2017: PloS One
https://www.readbyqxmd.com/read/28212402/graph-gpa-a-graphical-model-for-prioritizing-gwas-results-and-investigating-pleiotropic-architecture
#3
Dongjun Chung, Hang J Kim, Hongyu Zhao
Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. However, identification of risk variants associated with complex diseases remains challenging as they are often affected by many genetic variants with small or moderate effects. There has been accumulating evidence suggesting that different complex traits share common risk basis, namely pleiotropy...
February 17, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28212372/molecular-biology-of-gastroesophageal-cancers-opportunities-and-challenges
#4
Shaheer Khan, Sameh Mikhail, Joanne Xiu, Mohamed E Salem
Gastroesophageal (GE) malignancies make up a significant and growing segment of newly diagnosed cancers. Approximately 80% of patients who have GE cancers die within 5 years of diagnosis, which means that effective treatments for these malignancies need to be found. Currently, targeted therapies have a minimal role in this disease group. Intensive study of the molecular biology of GE cancers is a relatively new and ongoing venture, but it has already led to a significant increase in our understanding of these malignancies...
January 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28212256/hepatic-epithelioid-hemangioendothelioma-and-adult-liver-transplantation-proposal-for-a-prognostic-score-based-on-the-analysis-of-the-eltr-elita-registry
#5
Quirino Lai, Estelle Feys, Vincent Karam, Rene Adam, Jurgen Klempnauer, Martin Oliverius, Vincenzo Mazzaferro, Andreas Pascher, Piotr Remiszewski, Helena Isoniemi, Jacques Pirenne, Aksel Foss, Bo G Ericzon, Sasa Markovic, Jan P Lerut
BACKGROUND: Hepatic epithelioid hemangioendothelioma (HEHE) is a rare vascular tumor which has an intermediate aggressive behavior. Although the value of liver transplantation (LT) is well established, its place in the management of HEHE is still unclear. The aim of this study is to confirm, based on a very large patient cohort, the value of LT in the management of HEHE and to identify risk factors for post-LT recurrence. METHODS: The outcome of 149 transplant recipients with HEHE recorded in the European Liver Transplant Registry during the period November 1984 to May 2014 was analyzed...
March 2017: Transplantation
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#6
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28212103/simulation-of-healing-threshold-in-strain-induced-inflammation-through-a-discrete-informatics-model
#7
Israr Ibrahim, Sanjay Venkata Oruganti, Ramana Pidaparti
Respiratory diseases such as asthma and acute respiratory distress syndrome as well as acute lung injury involve inflammation at the cellular level. The inflammation process is very complex and is characterized by the emergence of cytokines along with other changes in cellular processes. Due to the complexity of the various constituents that makes up the inflammation dynamics, it is necessary to develop models that can complement experiments to fully understand inflammatory diseases. In this study, we developed a discrete informatics model based on cellular automata (CA) approach to investigate the influence of elastic field (stretch/strain) on the dynamics of inflammation and account for probabilistic adaptation based on statistical interpretation of existing experimental data...
February 15, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28211810/therapeutics-of-neurotransmitters-in-alzheimer-s-disease
#8
Ramesh Kandimalla, P Hemachandra Reddy
Alzheimer's disease (AD) is a progressive neurodegenerative disease, characterized by the loss of memory, multiple cognitive impairments and changes in the personality and behavior. Several decades of intense research have revealed that multiple cellular changes are involved in disease process, including synaptic damage, mitochondrial abnormalities and inflammatory responses, in addition to formation and accumulation of amyloid-β (Aβ) and phosphorylated tau. Although tremendous progress has been made in understanding the impact of neurotransmitters in the progression and pathogenesis of AD, we still do not have a drug molecule associated with neurotransmitter(s) that can delay disease process in elderly individuals and/or restore cognitive functions in AD patients...
February 15, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28211486/motor-phenotype-is-not-associated-with-vascular-dysfunction-in-symptomatic-huntington-s-disease-transgenic-r6-2-160-cag-mice
#9
A Di Pardo, A Carrizzo, A Damato, S Castaldo, E Amico, L Capocci, M Ambrosio, F Pompeo, C De Sanctis, C C Spinelli, A A Puca, P Remondelli, V Maglione, C Vecchione
Whereas Huntington's disease (HD) is unequivocally a neurological disorder, a critical mass of emerging studies highlights the occurrence of peripheral pathology like cardiovascular defects in both animal models and humans. The overt impairment in cardiac function is normally expected to be associated with peripheral vascular dysfunction, however whether this assumption is reasonable or not in HD is still unknown. In this study we functionally characterized the vascular system in R6/2 mouse model (line 160 CAG), which recapitulates several features of human pathology including cardiac disease...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211079/gata3-expression-in-triple-negative-breast-cancers
#10
David J Byrne, Siddhartha Deb, Elena A Takano, Stephen B Fox
AIMS: GATA-binding protein 3 (GATA3) is a well-studied transcription factor found to be essential in the development of luminal breast epithelium and has been identified in a variety of tumour types including breast and urotheilial carcinomas making it a useful immunohistochemistry marker in the diagnosis of both primary and metastatic disease. METHODS AND RESULTS: We investigated GATA3 protein expression in a 106 primary triple negative breast carcinomas (100 basal-like, 6 non-basal-like) using Cell Marque mouse monoclonal anti-GATA3 (L50-823)...
February 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28210915/determining-childhood-blood-lead-level-screening-compliance-among-physicians
#11
Amanda Haboush-Deloye, Erika R Marquez, Shawn L Gerstenberger
Childhood Lead Poisoning Prevention Programs throughout the U.S. have addressed childhood lead poisoning by implementing primary and secondary prevention efforts. While many programs have helped increase screening rates, in some states children under the age of six still have not been tested for lead. This study aims to identify the barriers to childhood blood lead testing and develop a strategy to increase the number of children tested. Clark County physicians who work with children six and under were surveyed about blood lead level (BLL) testing practices, particularly, adherence to Centers for Disease Control and Prevention (CDC) guidelines, and parental compliance with orders to have their children tested to determine their blood lead levels...
February 16, 2017: Journal of Community Health
https://www.readbyqxmd.com/read/28210881/comprehensive-genomic-profiling-of-malignant-phyllodes-tumors-of-the-breast
#12
Sahar Nozad, Christine E Sheehan, Laurie M Gay, Julia A Elvin, Jo-Anne Vergilio, James Suh, Shakti Ramkissoon, Alexa B Schrock, Kim M Hirshfield, Nadia Ali, Shridar Ganesan, Siraj M Ali, Vincent A Miller, Philip J Stephens, Jeffrey S Ross, Jon H Chung
PURPOSE: Malignant phyllodes tumors (MPT) are exceptionally rare, and the genomic drivers of these tumors are still being elucidated. We performed comprehensive genomic profiling (CGP) of MPT to identify genomic alterations that will inform approaches to targeted therapy for patients with MPT, including relapsed, refractory, and metastatic disease. METHODS: DNA was extracted from formalin-fixed, paraffin-embedded samples from 24 consecutive patient cases of MPT...
February 17, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28210784/novel-aids-therapies-based-on-gene-editing
#13
REVIEW
Kamel Khalili, Martyn K White, Jeffrey M Jacobson
HIV/AIDS remains a major public health issue. In 2014, it was estimated that 36.9 million people are living with HIV worldwide, including 2.6 million children. Since the advent of combination antiretroviral therapy (cART), in the 1990s, treatment has been so successful that in many parts of the world, HIV has become a chronic condition in which progression to AIDS has become increasingly rare. However, while people with HIV can expect to live a normal life span with cART, lifelong medication is required and cardiovascular, renal, liver, and neurologic diseases are still possible, which continues to prompt research for a cure for HIV...
February 16, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28210630/scientific-evidence-of-rice-by-products-for-cancer-prevention-chemopreventive-properties-of-waste-products-from-rice-milling-on-carcinogenesis-in-vitro-and-in-vivo
#14
REVIEW
Bee Ling Tan, Mohd Esa Norhaizan
Cancer is a significant global health concern affecting men and women worldwide. Although current chemopreventive drugs could inhibit the growth of cancer cells, they exert many adverse side effects. Dietary factor plays a crucial role in the management of cancers and has drawn the attention of researchers to be used as an option to combat this disease. Both in vitro and in vivo studies showed that rice and its by-products display encouraging results in the prevention of this disease. The mechanism of anticancer effect is suggested partly through potentiation of bioactive compounds like vitamin E, phytic acid, γ-aminobutyric acid (GABA), γ-oryzanol, and phenolics...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28210505/nanotechnology-based-approach-in-tuberculosis-treatment
#15
REVIEW
Mohammad Nasiruddin, Md Kausar Neyaz, Shilpi Das
Tuberculosis, commonly known as TB, is the second most fatal infectious disease after AIDS, caused by bacterium called Mycobacterium tuberculosis. Prolonged treatment, high pill burden, low compliance, and stiff administration schedules are factors that are responsible for emergence of MDR and XDR cases of tuberculosis. Till date, only BCG vaccine is available which is ineffective against adult pulmonary TB, which is the most common form of disease. Various unique antibodies have been developed to overcome drug resistance, reduce the treatment regimen, and elevate the compliance to treatment...
2017: Tuberculosis Research and Treatment
https://www.readbyqxmd.com/read/28210381/practical-and-sustainable-teledermatology-and-teledermatopathology-specialty-care-in-cameroon-africa
#16
Anne Nguyen, Donna Tran, Mason Uemura, Richard L Bardin, Paul K Shitabata
Teledermatology is a rapidly expanding niche within telemedicine still in its infancy. It has become increasingly more feasible in recent years with the expansion of information and communication technologies. Here, the authors present the details of their collaboration and propose a model for constructing a teledermatology network. In the year 2014, the authors' Dermatopathology institute in Torrance, California, partnered with Mbingo Baptist Hospital, a tertiary referral center in Cameroon, Africa. During this time, 145 cases were received...
January 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28210378/advances-in-vitiligo-an-update-on-medical-and-surgical-treatments
#17
REVIEW
Alexander B Dillon, Andrew Sideris, Ali Hadi, Nada Elbuluk
Vitiligo is one of the most common cutaneous disorders of depigmentation. Although its underlying causes are still being studied and no definitive cure currently exists, recent research has provided insight into pathogenic mechanisms and new treatment options. Objective: The aim of this paper is to provide a comprehensive overview of the medical and surgical therapies for vitiligo with emphasis on the most recent treatment modalities. Design: This review was conducted through a literature search using PubMed and the National institutes of Health's clinicalTrials...
January 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28210321/telemedicine-in-chronic-obstructive-pulmonary-disease
#18
Nicolino Ambrosino, Guido Vagheggini, Stefano Mazzoleni, Michele Vitacca
: Telemedicine is a medical application of advanced technology to disease management. This modality may provide benefits also to patients with chronic obstructive pulmonary disease (COPD). Different devices and systems are used. The legal problems associated with telemedicine are still controversial. Economic advantages for healthcare systems, though potentially high, are still poorly investigated. A European Respiratory Society Task Force has defined indications, follow-up, equipment, facilities, legal and economic issues of tele-monitoring of COPD patients including those undergoing home mechanical ventilation...
December 2016: Breathe
https://www.readbyqxmd.com/read/28210083/incidental-adenocarcinoma-in-patients-undergoing-surgery-for-stricturing-crohn-s-disease
#19
Ivan Kristo, Stefan Riss, Stanislaus Argeny, Svenja Maschke, Praminthra Chitsabesan, Anton Stift
AIM: To evaluate frequency and clinical course of incidental adenocarcinoma in patients with stricturing Crohn's disease (CD). METHODS: In this study, consecutive patients, who were operated on for stricturing CD between 1997-2012, were included at an academic tertiary referral center. Demographic data and clinical course were obtained by an institutional database and individual chart review. Besides baseline characteristics, intraoperative findings and CD related history were also recorded...
January 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28210074/second-look-surgery-plus-hyperthermic-intraperitoneal-chemotherapy-for-patients-with-colorectal-cancer-at-high-risk-of-peritoneal-carcinomatosis-does-it-really-save-lives
#20
EDITORIAL
Delia Cortes-Guiral, Dominique Elias, Pedro Antonio Cascales-Campos, Alfredo Badía Yébenes, Ismael Guijo Castellano, Ana Isabel León Carbonero, José Ignacio Martín Valadés, Jesus Garcia-Foncillas, Damian Garcia-Olmo
The treatment of peritoneal carcinomatosis (PC) of colorectal origin with cytoreductive surgery (CRS) plus hyperthermic intraperitoneal chemotherapy (HIPEC) has a 5-year recurrence-free or cure rate of at least 16%, so it is no longer labeled as a fatal disease, and offers prolonged survival for patients with a low peritoneal carcinomatosis index. Metachronous PC of colorectal origin is so predictable that there is a model which has been used to successfully determine the individual risk of each patient. Patients at risk are clearly identified; those with the highest risk have small peritoneal nodules present in the first surgery (70% probability of developing PC), ovarian metastases (60%), perforated tumor onset or intraoperative tumor rupture (50%)...
January 21, 2017: World Journal of Gastroenterology: WJG
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