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https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#1
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938647/long-non-coding-rna-malat1-for-promoting-metastasis-and-proliferation-by-acting-as-a-cerna-of-mir-144-3p-in-osteosarcoma-cells
#2
Yong Wang, Yueyang Zhang, Tao Yang, Wei Zhao, Ningning Wang, Pengcheng Li, Xiandong Zeng, Weiguo Zhang
Long non-coding RNAs (lncRNAs) are involved in various biological processes and diseases including osteosarcoma. Long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) is overly expressed in osteosarcoma. But the function and mechanism it works on in osteosarcoma proliferation and metastasis mediated by Rho associated coiled-coil containing protein kinase 1 (ROCK1) and Rho associated coiled-coil containing protein kinase 2 (ROCK2) remain unclear. In the present study, an elevated MALAT1 was found in osteosarcoma tissues and cell lines, and the elevated MALAT1 was correlated with a poor prognosis in osteosarcoma patients...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938479/pulmonary-function-and-sleep-breathing-two-new-targets-for-type-2-diabetes-care
#3
Albert Lecube, Rafael Simó, Maria Pallayova, Naresh M Punjabi, Carolina López-Cano, Cecilia Turino, Cristina Hernández, Ferran Barbé
Population based studies showing the negative impact of type 2 diabetes (T2D) on lung function are overviewed. Among the well-recognized pathophysiological mechanisms, the metabolic pathways related to insulin resistance, low-grade chronic inflammation, leptin resistance, microvascular damage, and autonomic neuropathy are emphasized. Histopathological changes are exposed, and findings reported from experimental models are clearly differentiated from those described in humans. The accelerated decline in pulmonary function that appears in patients with cystic fibrosis with related abnormalities of glucose tolerance and diabetes is considered as an example to further investigate the relationship between T2D and the lung...
September 4, 2017: Endocrine Reviews
https://www.readbyqxmd.com/read/28938477/growth-hormone-and-the-epithelial-to-mesenchymal-transition
#4
Alison L Brittain, Reetobrata Basu, Yanrong Qian, John J Kopchick
Context: Previous studies have implicated growth hormone (GH) in the progression of several cancers, including breast, colorectal and pancreatic. A mechanism by which GH may play this role in cancer is through the induction of the epithelial-to-mesenchymal transition (EMT). During the EMT process, epithelial cells lose their defining phenotypes causing loss of cellular adhesion and increased cell migration. This review aims to carefully summarize the previous two decades of research that points to GH as an initiator of EMT, in both cancerous and non-cancerous tissues...
August 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938439/single-dose-metformin-enhances-bile-acid-induced-glp-1-secretion-in-patients-with-type-2-diabetes
#5
Andreas Brønden, Anders Albér, Ulrich Rohde, Jens F Rehfeld, Jens J Holst, Tina Vilsbøll, Filip K Knop
Context: Despite a position as the first-line pharmacotherapy in type 2 diabetes, the glucose-lowering mechanisms of metformin remain to be fully clarified. Gut-derived modes of action, including suppression of bile acid reabsorption and a resulting increase in GLP-1 secretion, has been proposed. Objective: The aim of this study was to assess the GLP-1 secretory and gluco-metabolic effects of endogenously released bile, with and without concomitant single-dose administration of metformin in patients with type 2 diabetes...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938326/progress-on-botulinum-toxin-type-a-induced-pain-relief-in-the-field-of-plastics
#6
Xiaona Lu, Guocheng Chen, Pengjie Ren, Yan Yang, Fei Fan
OBJECTIVE: To retrospectively evaluate the effectiveness of Botulinum Toxin Type A (BTX-A) injections relieve pain in the field of plastic surgery and postoperative rehabilitation, and discuss the analgesic mechanism of BTX- A in plastics and related research progress. METHODS: From appearance to September 1, 2016, PUBMED, EMBASE, and Web of Science were searched, using the key words related to "Botulinum Toxin Type A" and "Pain." Furtherly, nonplastic surgery-related literature was excluded by manual screening...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938270/bariatric-surgery-and-the-risk-of-cancer-in-a-large-multisite-cohort
#7
Daniel P Schauer, Heather Spencer Feigelson, Corinna Koebnick, Bette Caan, Sheila Weinmann, Anthony C Leonard, J David Powers, Panduranga R Yenumula, David E Arterburn
OBJECTIVE: To determine whether bariatric surgery is associated with a lower risk of cancer. BACKGROUND: Obesity is strongly associated with many types of cancer. Few studies have examined the relationship between bariatric surgery and cancer risk. METHODS: We conducted a retrospective cohort study of patients undergoing bariatric surgery between 2005 and 2012 with follow-up through 2014 using data from a large integrated health insurance and care delivery systems with 5 study sites...
September 21, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28938090/small-molecule-targets-in-immuno-oncology
#8
REVIEW
Dashyant Dhanak, James P Edwards, Ancho Nguyen, Peter J Tummino
Advances in understanding the role and molecular mechanisms underlying immune surveillance and control of (pre)malignancies is revolutionizing clinical practice in the treatment of cancer. Presently, multiple biologic drugs targeting the immune checkpoint proteins PD(L)1 or CTLA4 have been approved and/or are in advanced stages of clinical development for many cancers. In addition, combination therapy with these agents and other immunomodulators is being intensively explored with the aim of improving primary response rates or prolonging overall survival...
September 21, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28938079/comparing-climate-sensitivity-past-and-present
#9
Eelco J Rohling, Gianluca Marino, Gavin L Foster, Philip A Goodwin, Anna S von der Heydt, Peter Köhler
Climate sensitivity represents the global mean temperature change caused by changes in the radiative balance of climate; it is studied for both present/future (actuo) and past (paleo) climate variations, with the former based on instrumental records and/or various types of model simulations. Paleo-estimates are often considered informative for assessments of actuo-climate change caused by anthropogenic greenhouse forcing, but this utility remains debated because of concerns about the impacts of uncertainties, assumptions, and incomplete knowledge about controlling mechanisms in the dynamic climate system, with its multiple interacting feedbacks and their potential dependence on the climate background state...
September 22, 2017: Annual Review of Marine Science
https://www.readbyqxmd.com/read/28937978/a-new-discrete-dynamic-model-of-aba-induced-stomatal-closure-predicts-key-feedback-loops
#10
Réka Albert, Biswa R Acharya, Byeong Wook Jeon, Jorge G T Zañudo, Mengmeng Zhu, Karim Osman, Sarah M Assmann
Stomata, microscopic pores in leaf surfaces through which water loss and carbon dioxide uptake occur, are closed in response to drought by the phytohormone abscisic acid (ABA). This process is vital for drought tolerance and has been the topic of extensive experimental investigation in the last decades. Although a core signaling chain has been elucidated consisting of ABA binding to receptors, which alleviates negative regulation by protein phosphatases 2C (PP2Cs) of the protein kinase OPEN STOMATA 1 (OST1) and ultimately results in activation of anion channels, osmotic water loss, and stomatal closure, over 70 additional components have been identified, yet their relationships with each other and the core components are poorly elucidated...
September 22, 2017: PLoS Biology
https://www.readbyqxmd.com/read/28937963/ki67-and-lymphocytes-in-the-pretherapeutic-core-biopsy-of-primary-invasive-breast-cancer-positive-markers-of-therapy-response-prediction-and-superior-survival
#11
REVIEW
Claus M Schlotter, Lothar Tietze, Ulf Vogt, Carlos Villena Heinsen, Antje Hahn
Background Core needle biopsy plays a crucial role as diagnostic tool for BC. Both Ki67 and likely tumor-infiltrating lymphocytes (TILs) in the near future are determining the kind of systemic therapy. The role of TILs in BC is still an issue for clinical research, albeit preliminary results of neoadjuvant and adjuvant clinical studies already now highlight the crucial impact of TILs on therapy response and survival. Methods Evaluation of related publications (pubmed) and meeting abstracts (ASCO, SABCS). Results The monoclonal antibody Ki67 recognizing a nuclear antigene in proliferating cells is a positive marker of therapy response and superior survival...
September 22, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28937955/military-blast-injury-and-chronic-neurodegeneration-research-presentations-from-the-2015-international-state-of-the-science-meeting
#12
Denes Agoston, Peethambaran Arun, Patrick Bellgowan, Steven Broglio, Robert Cantu, David Cook, Uade Olaghere da Silva, Dara Dickstein, Gregory Elder, Elizabeth Fudge, Sam Gandy, Jessica Gill, John F Glenn, Raj K Gupta, Sidney Hinds, Stuart Hoffman, Theresa Lattimore, Alexander Lin, Kun Ping Lu, Joseph Maroon, David Okonkwo, Daniel Perl, Meghan Robinson, Charles Rosen, Douglas Smith
Blast-related traumatic brain injury (TBI) is a signature injury of recent military conflicts, leading to increased Department of Defense (DoD) interest in its potential long-term effects, such as chronic traumatic encephalopathy (CTE). The DoD Blast Injury Research Program Coordinating Office convened the 2015 International State-of-the-Science Meeting to discuss the existing evidence regarding a causal relationship between TBI and CTE. Over the course of the meeting, experts across government, academia, and the sports community presented cutting edge research on the unique pathological characteristics of blast-related TBI, blast-related neurodegenerative mechanisms, risk factors for CTE, potential biomarkers for CTE, and treatment strategies for chronic neurodegeneration...
September 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28937861/increased-suicides-during-new-year-but-not-during-christmas-in-sweden-analysis-of-cause-of-death-data-2006-2015
#13
Gergö Hadlaczky, Sebastian Hökby
BACKGROUND: Previous studies have investigated the impact of the Christmas and New Year holiday on suicide rates. However, no such data has yet been published on Swedish suicides. AIMS: To examine the occurrence of suicides on these dates in Sweden between 2006 and 2015. METHODS: The suicide count for each date between December 15th and January 15th was obtained from the Swedish cause of death registry. The observations were transformed to Z-scores to enable calculation of p-values...
September 22, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28937860/association-of-adamts4-and-adamts9-levels-with-cardiovascular-risk-in-patients-with-primary-hyperparathyroidism
#14
Melia Karakose, Mustafa Caliskan, Muyesser Sayki Arslan, Taner Demirci, Suleyman Karakose, Esra Tutal, Erman Cakal
PURPOSE: Primary hyperparathyroidism (PHPT) has been associated with increased incidence of morbidity and mortality of the cardiovascular system. The pathogenetic mechanisms underlying this association are still not completely clear. A disintegrin and metalloproteinase with thrombospondin-like motifs (ADAMTS) play a critical role in atherosclerosis. This study aimed to investigate the levels of ADAMTS4 and ADAMTS9 and relationship between these proteoglycanases and cardiometabolic abnormalities in PHPT...
September 22, 2017: Endocrine Research
https://www.readbyqxmd.com/read/28937582/design-of-the-exercise-mri-evaluation-of-hiv-pulmonary-arterial-hypertension-longitudinal-determinants-exhalted-trial
#15
Mohamad Amer Alaiti, Aditya Goud, Gautam Ramani, Sashwatee Bagchi, Sadeer Al-Kindi, Steven Sawicki, Christopher Longenecker, Trevor Jenkins, David Pauza, Myung Park, Grace McComsey, Orlando Simonetti, Brian Hoit, Sanjay Rajagopalan
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially serious cause of dyspnea and exercise limitation in patients with HIV infection. In this trial, we propose using exercise MRI in conjunction with cardiopulmonary testing to delineate PAH from other causes of cardiovascular dysfunction, identify individuals with exercise-induced PAH who are at high risk of developing resting PAH, and provide longitudinal estimates of progression of PAH and right ventricular function. METHODS: In this prospective observational study, HIV patients with dyspnea and exercise limitation in the absence of identifiable causes and those who meet the inclusion criteria will be enrolled based on resting pulmonary artery pressure (≤ or >40 mmHg) on a screening echocardiogram and exercise limitation on the Modified Medical Research Council dyspnea scale...
September 20, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28937409/development-and-feasibility-of-self-management-application-in-left-ventricular-assist-devices
#16
Jesus M Casida, James E Aikens, Heidi Craddock, Matthew W Aldrich, Francis D Pagani
Despite major advancements in mechanical circulatory support, the self-management (SM) for patients with a left-ventricular assist device (LVAD) remains complex and challenging for patients and their caregivers. We have developed a mobile phone application (VAD Care App) to organize and simplify the LVAD SM process. This article describes the development and feasibility study of the app as an SM tool for LVAD patients and caregivers requiring support from ventricular assist device (VAD) coordinators. The specific aim was to evaluate the app's acceptability and usability and the users' competency...
September 20, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28937252/animal-models-in-the-research-of-abdominal-aortic-aneurysms-development
#17
N Patelis, D Moris, D Schizas, C Damaskos, D Perrea, C Bakoyiannis, T Liakakos, S Georgopoulos
Abdominal aortic aneurysm (AAA) is a prevalent and potentially life threatening disease. Many animal models have been developed to simulate the natural history of the disease or test preclinical endovascular devices and surgical procedures. The aim of this review is to describe different methods of AAA induction in animal models and report on the effectiveness of the methods described in inducing an analogue of a human AAA. The PubMed database was searched for publications with titles containing the following terms "animal" or ''animal model(s)'' and keywords "research", ''aneurysm(s)'', "aorta", ''pancreatic elastase'', "Angiotensin", "AngII" "Calcium Chloride" or "CaCl(2)"...
September 22, 2017: Physiological Research
https://www.readbyqxmd.com/read/28937045/carotid-atherosclerosis-and-cognitive-impairment-in-nonstroke-patients
#18
REVIEW
Wei-Hong Chen, Wei Jin, Pei-Yuan Lyu, Yang Liu, Rui Li, Ming Hu, Xiang-Jian Xiao
OBJECTIVE: As a vascular risk factor, carotid atherosclerosis is crucial to cognitive impairment. While carotid intima-media thickness, carotid artery plaque, and carotid stenosis can reflect carotid atherosclerosis in different stages, this review aimed to explore researches on the role of carotid intima-media thickness, carotid artery plaque, and carotid stenosis in the progress of cognitive impairment in nonstroke patients and tried to illustrate the possible mechanisms. DATA SOURCES: We searched the PubMed database for recently published research articles up to July 2017, with the key words of "carotid atherosclerosis," "carotid intima-media thickness," "carotid plaque," "carotid stenosis," "nonstroke," and "cognitive impairment...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28937014/sex-bias-in-basic-and-preclinical-noise-induced-hearing-loss-research
#19
Amanda Marie Lauer, Katrina Marie Schrode
INTRODUCTION: Sex differences in brain biochemistry, physiology, structure, and function have been gaining increasing attention in the scientific community. Males and females can have different responses to medications, diseases, and environmental variables. A small number of the approximately 7500 studies of noise-induced hearing loss (NIHL) have identified sex differences, but the mechanisms and characterization of these differences have not been thoroughly studied. The National Institutes of Health (NIH) issued a mandate in 2015 to include sex as a biological variable in all NIH-funded research beginning in January 2016...
September 2017: Noise & Health
https://www.readbyqxmd.com/read/28936978/advances-on-polyphenism-in-insects
#20
Xian-Ci Xue, Li Yu
Polyphenism denotes that one genome produces two or more distinct phenotypes due to environmental inductions. Many cases have been reported in insects, for example, metamorphosis, seasonal polyphenism, the caste of eusocial insects and so on. Polyphenism is one of the most important reasons for insects to survive and thrive, because insects can adapt and use the environmental cues around them in order to avoid predators and reproduce by changing their phenotypes. Polyphenism has received growing attentions, ranging from the earlier description of this phenomenon to the exploration of possible inducing factors...
September 20, 2017: Yi Chuan, Hereditas
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