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https://www.readbyqxmd.com/read/28741255/genetics-of-schizophrenia-ready-to-translate
#1
REVIEW
Claire Foley, Aiden Corvin, Shigeki Nakagome
PURPOSE OF REVIEW: This is an era where we have significantly advanced the understanding of the genetic architecture of schizophrenia. In this review, we consider how this knowledge may translate into advances that will improve patient care. RECENT FINDINGS: Large-scale genome-wide association studies (GWAS) have identified more than a hundred loci each making a small contribution to illness risk. Meta-analysis of copy number variants (CNVs) in the Psychiatric Genomics Consortium (PGC) dataset has confirmed that some variants have a moderate or large impact on risk, although these are rare in the population...
September 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28741130/epigenetic-involvement-in-etiopathogenesis-and-implications-in-treatment-of-systemic-lupus-erythematous
#2
REVIEW
Arron Munggela Foma, Saeed Aslani, Jafar Karami, Ahmadreza Jamshidi, Mahdi Mahmoudi
BACKGROUND: Recent researches in the field of genetics have extended our knowledge through the discovery of genetic factors associated with autoimmune diseases (AID). Genetics by itself, however, cannot elucidate all the uncertainties encountered in the etiopathology of AID. On the other hand, incomplete harmony in the prevalence of AID in identical twins suggests that non-genetic factors may play an important role in determining the disease susceptibility. Besides, epigenetics, which is defined by changes in gene expression without a corresponding change in the DNA sequences, has come in to provide new awareness in the disease etiopathology by bridging the genetic and epigenetic factors...
July 24, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28741005/the-pan-asian-resuscitation-outcomes-study-paros-clinical-research-network-what-where-why-and-how
#3
Nausheen Edwin Doctor, Nur Shahidah Binte Ahmad, Pin Pin Pek, Susan Yap, Marcus Eng Hock Ong
Out-of-hospital cardiac arrest (OHCA) is a global health concern with an incidence rate of 50-60 per 100,000 person-years. To improve OHCA survival rates, several cardiac arrest registries have been set up in North America and Europe, such as the Resuscitation Outcomes Consortium, Cardiac Arrest Registry to Enhance Survival, Ontario Prehospital Advanced Life Support and European Registry of Cardiac Arrest. In Asia, however, there was previously no concerted effort in prehospital emergency care research owing to differences in prehospital emergency medical services systems, data collection methods and outcome reporting between countries...
July 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28740831/the-impact-of-the-tumor-microenvironment-on-the-properties-of-glioma-stem-like-cells
#4
REVIEW
Alessandra Audia, Siobhan Conroy, Rainer Glass, Krishna P L Bhat
Glioblastoma is the most common and highly malignant primary brain tumor, and patients affected with this disease exhibit a uniformly dismal prognosis. Glioma stem-like cells (GSCs) are a subset of cells within the bulk tumor that possess self-renewal and multi-lineage differentiation properties similar to somatic stem cells. These cells also are at the apex of the cellular hierarchy and cause tumor initiation and expansion after chemo-radiation. These traits make them an attractive target for therapeutic development...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28740385/application-of-nanodiagnostics-in-point-of-care-tests-for-infectious-diseases
#5
REVIEW
Yongzhong Wang, Li Yu, Xiaowei Kong, Leming Sun
Although tremendous efforts have been put into the treatment of infectious diseases to prevent epidemics and mortality, it is still one of the major health care issues that have a profound impact on humankind. Therefore, the development of specific, sensitive, accurate, rapid, low-cost, and easy-to-use diagnostic tools is still in urgent demand. Nanodiagnostics, defined as the application of nanotechnology to medical diagnostics, can offer many unique opportunities for more successful and efficient diagnosis and treatment for infectious diseases...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28740365/spotlight-on-ceritinib-in-the-treatment-of-alk-nsclc-design-development-and-place-in-therapy
#6
REVIEW
Mariacarmela Santarpia, Maria Grazia Daffinà, Alessandro D'Aveni, Grazia Marabello, Alessia Liguori, Elisa Giovannetti, Niki Karachaliou, Maria Gonzalez Cao, Rafael Rosell, Giuseppe Altavilla
The identification of echinoderm microtubule-associated protein-like 4 (EML4) and anaplastic lymphoma kinase (ALK) fusion gene in non-small cell lung cancer (NSCLC) has radically changed the treatment of a subset of patients harboring this oncogenic driver. Crizotinib was the first ALK tyrosine kinase inhibitor to receive fast approval and is currently indicated as the first-line therapy for advanced, ALK-positive NSCLC patients. However, despite crizotinib's efficacy, patients almost invariably progress, with the central nervous system being one of the most common sites of relapse...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28739561/smartphone-based-monitoring-of-objective-and-subjective-data-in-affective-disorders-where-are-we-and-where-are-we-going-systematic-review
#7
Ezgi Dogan, Christian Sander, Xenija Wagner, Ulrich Hegerl, Elisabeth Kohls
BACKGROUND: Electronic mental health interventions for mood disorders have increased rapidly over the past decade, most recently in the form of various systems and apps that are delivered via smartphones. OBJECTIVE: We aim to provide an overview of studies on smartphone-based systems that combine subjective ratings with objectively measured data for longitudinal monitoring of patients with affective disorders. Specifically, we aim to examine current knowledge on: (1) the feasibility of, and adherence to, such systems; (2) the association of monitored data with mood status; and (3) the effects of monitoring on clinical outcomes...
July 24, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28738914/characterization-of-group-b-coxsackieviruses-isolated-from-non-polio-acute-flaccid-paralysis-patients-in-pakistan-vital-assessment-before-polio-eradication
#8
M Angez, S Shaukat, R Zahra, M M Alam, S Sharif, A Khurshid, Y Arshad, M Suleman, G Mujtaba, S S Z Zaidi
Pakistan is at the verge of polio eradication but isolation of non-polio enteroviruses (NPEVs) from acute flaccid paralysis (AFP) cases may result in serious or even fatal outcome. Many enteroviruses share similar symptoms and epidemiology as is the case with poliovirus and coxsackievirus (CV). The present study was designed to genetically characterize coxsackievirus B (CV-B) serotypes isolated from non-polio acute flaccid paralytic children, as well as to understand their probable role in paralysis. A total of 63 (20·1%) out of 313 stool samples during 2013 were found positive for NPEVs in rhabdomyosarcoma cells...
July 25, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28738358/innovative-surgery-for-obstructive-sleep-apnea-nerve-stimulator
#9
J Ulrich Sommer, Karl Hörmann
Obstructive sleep apnea (OSA) as a multifactorial disease is treated with continuous positive airway pressure (CPAP) as the gold standard. Yet, if patients suffer from CPAP incompliance, traditional OSA surgery only targets morphological changes of the upper airway while neglecting functional issues. With the advent of upper airway stimulation, and in particular hypoglossal nerve stimulation as a treatment option, a highly effective, clinically proven and functional therapy with good evidence is available. This article gives a comprehensive overview of current and upcoming hypoglossal nerve stimulation systems (Inspire, ImThera, and Nyxoah), the specific advantages of this approach, the selection criteria and screening process, relevant clinical data, and a description of the different implantation procedures...
2017: Advances in Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28738268/descriptive-epidemiology-of-primary-malignant-and-non-malignant-central-nervous-tumors-in-spain-results-from-the-girona-cancer-registry-1994-2013
#10
Rafael Fuentes-Raspall, Marta Solans, Aina Roca-Barceló, Loreto Vilardell, Montse Puigdemont, Sonia Del Barco, Raquel Comas, Adelaida García-Velasco, Aurora Astudillo, Mª Carme Carmona-Garcia, Rafael Marcos-Gragera
BACKGROUND: Systematic registration of non-malignant central nervous system (CNS) tumors is a rare practice among European cancer registries. Thus, the real burden of all CNS tumors across Europe is underestimated. The Girona Cancer Registry provides here the first data on CNS tumor incidence and survival trends in Spain for all histological types, including malignant and non-malignant tumors. METHODS: Data on all incident cases of primary CNS tumors notified to the Girona population-based cancer registry from 1994 to 2013 (n=2,131) were reviewed...
July 21, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28738203/early-detection-monitoring-for-aquatic-non-indigenous-species-optimizing-surveillance-incorporating-advanced-technologies-and%C3%A2-identifying-research-needs
#11
REVIEW
Anett S Trebitz, Joel C Hoffman, John A Darling, Erik M Pilgrim, John R Kelly, Emily A Brown, W Lindsay Chadderton, Scott P Egan, Erin K Grey, Syed A Hashsham, Katy E Klymus, Andrew R Mahon, Jeffrey L Ram, Martin T Schultz, Carol A Stepien, James C Schardt
Following decades of ecologic and economic impacts from a growing list of nonindigenous and invasive species, government and management entities are committing to systematic early- detection monitoring (EDM). This has reinvigorated investment in the science underpinning such monitoring, as well as the need to convey that science in practical terms to those tasked with EDM implementation. Using the context of nonindigenous species in the North American Great Lakes, this article summarizes the current scientific tools and knowledge - including limitations, research needs, and likely future developments - relevant to various aspects of planning and conducting comprehensive EDM...
July 21, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28738049/atypical-hemolytic-uremic-syndrome-achieving-positive-patient-outcomes-with-early-diagnosis-and-appropriate-management%C3%A2
#12
Dmitriy Sverdlin, Brenda Peters-Watral
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS), a condition found in adult and pediatric populations, can be idiopathic or acquired as a result of major systemic changes. aHUS presents with a wide array of symptoms that can be attributed to other less dangerous conditions. Because of its complex nature and rare occurrence, it is typically diagnosed in later stages and with multiple organ involvement.
. OBJECTIVES: This article provides an overview of aHUS and available interventions...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28737682/cadmium-handling-toxicity-and-molecular-targets-involved-during-pregnancy-lessons-from-experimental-models
#13
REVIEW
Tania Jacobo-Estrada, Mitzi Santoyo-Sánchez, Frank Thévenod, Olivier Barbier
Even decades after the discovery of Cadmium (Cd) toxicity, research on this heavy metal is still a hot topic in scientific literature: as we wrote this review, more than 1440 scientific articles had been published and listed by the PubMed.gov website during 2017. Cadmium is one of the most common and harmful heavy metals present in our environment. Since pregnancy is a very particular physiological condition that could impact and modify essential pathways involved in the handling of Cd, the prenatal life is a critical stage for exposure to this non-essential element...
July 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28736206/bpag1-in-muscles-structure-and-function-in-skeletal-cardiac-and-smooth-muscle
#14
REVIEW
Masao Horie, Nozomu Yoshioka, Hirohide Takebayashi
BPAG1, also known as Dystonin or BP230, belongs to the plakin family of proteins, which has multiple cytoskeleton-binding domains. Several BPAG1 isoforms are produced by a single BPAG1 genomic locus using different promoters and exons. For example, BPAG1a, BPAG1b, and BPAG1e are predominantly expressed in the nervous system, muscle, and skin, respectively. Among BPAG1 isoforms, BPAG1e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease...
July 20, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#15
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28735357/promoting-and-protecting-public-health-how-the-european-union-pharmacovigilance-system-works
#16
Aniello Santoro, Georgy Genov, Almath Spooner, June Raine, Peter Arlett
This article provides an overview of the European Union pharmacovigilance system resulting from the rationalisation and strengthening delivered through the implementation of the revised pharmacovigilance legislation. It outlines the system aims, underlying principles, components and drivers for future change. At its core, the Pharmacovigilance Risk Assessment Committee is responsible for assessing all aspects of the risk management of medicinal products, thus ensuring that medicines approved for the European Union market are optimally used by maximising their benefits and minimising risks...
July 22, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28734874/robotic-assistants-in-personal-care-a-scoping-review
#17
REVIEW
A Bilyea, N Seth, S Nesathurai, H A Abdullah
The aim of this study is to present an overview of the technological advances in the field of robotics developed for assistance with activities of daily living (ADL), and to present areas where further research is required. Four databases were searched for articles presenting either a novel design of one of these personal care robotic system or trial results relating to these systems. Articles presenting nine different robotic personal care systems were examined, six of which had been developed after 2005. These six also all have publications relating to their trials...
July 19, 2017: Medical Engineering & Physics
https://www.readbyqxmd.com/read/28734786/clinical-usefulness-of-tools-to-support-decision-making-for-palliative-treatment-of%C3%A2-metastatic-colorectal-cancer-a-systematic-review
#18
Ellen G Engelhardt, Dóra Révész, Hans J Tamminga, Cornelis J A Punt, Mirjam Koopman, Bregje D Onwuteaka-Philipsen, Ewout W Steyerberg, Ilse P Jansma, Henrica C W De Vet, Veerle M H Coupé
BACKGROUND: Decision-making regarding palliative treatment for patients with metastatic colorectal cancer (mCRC) is complex and comprises numerous decisions. Decision-making should be guided by the premise of maintaining and/or improving patients' quality of life, by patient preference, and by the trade-off between treatment benefits and harm. Decision support systems (DSSs) for clinicians (eg, nomograms) can assist in this process. The present systematic review aimed to provide a comprehensive overview of the available DSSs for incurable mCRC and to assess their clinical usefulness...
June 24, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/28734757/editorial-overview-systems-biology-for-biotechnology
#19
EDITORIAL
Matthias Heinemann, Yitzhak Pilpel
No abstract text is available yet for this article.
July 19, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28734199/endosulfan-poisoning-an-overview
#20
REVIEW
Ritesh G Menezes, Tooba Fatima Qadir, Ariba Moin, Huda Fatima, Syed Ather Hussain, Mohammed Madadin, Syed Bilal Pasha, Fatima A Al Rubaish, S Senthilkumaran
Endosulfan, an organochlorine (OC) insecticide, is a widely used agricultural pesticide, despite its life threatening toxic effects. In this review, the pharmacokinetics of endosulfan, mechanism of endosulfan toxicity, clinical presentations and management, histopathological findings, and toxicological analysis are described, in addition to its environmental toxicity. The toxic effects of endosulfan can affect many organs and systems presenting in a wide array of signs and symptoms. Although termed a restricted OC-classed pesticide, it continues to be used, especially in the developing world, owing to its beneficial effects on agriculture...
July 5, 2017: Journal of Forensic and Legal Medicine
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