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https://www.readbyqxmd.com/read/28334950/downstream-targets-of-gwas-detected-genes-for-breast-lung-and-prostate-and-colon-cancer-converge-to-g1-s-transition-pathway
#1
Olga Y Gorlova, Eugene I Demidenko, Christopher I Amos, Ivan P Gorlov
Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usually show no or weak enrichment by known cancer genes.We hypothesized that GWAS-detected cancer risk-associated genes function as upstream regulators of the genes directly involved in carcinogenesis...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28330589/ethnicity-and-excess-mortality-in-severe-mental-illness-a-cohort-study
#2
Jayati Das-Munshi, Chin-Kuo Chang, Rina Dutta, Craig Morgan, James Nazroo, Robert Stewart, Martin J Prince
BACKGROUND: Excess mortality in severe mental illness (defined here as schizophrenia, schizoaffective disorders, and bipolar affective disorders) is well described, but little is known about this inequality in ethnic minorities. We aimed to estimate excess mortality for people with severe mental illness for five ethnic groups (white British, black Caribbean, black African, south Asian, and Irish) and to assess the association of ethnicity with mortality risk. METHODS: We conducted a longitudinal cohort study of individuals with a valid diagnosis of severe mental illness between Jan 1, 2007, and Dec 31, 2014, from the case registry of the South London and Maudsley Trust (London, UK)...
March 16, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/28329545/darier-white-disease
#3
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28325585/gender-differences-in-demographic-and-clinical-correlates-among-veterans-with-musculoskeletal-disorders
#4
Diana M Higgins, Brenda T Fenton, Mary A Driscoll, Alicia A Heapy, Robert D Kerns, Matthew J Bair, Constance Carroll, Penny L Brennan, Diana J Burgess, John D Piette, Sally G Haskell, Cynthia A Brandt, Joseph L Goulet
BACKGROUND: Studies suggest that women may be at greater risk for developing chronic pain and pain-related disability. METHODS: Because musculoskeletal disorders (MSD) are the most frequently endorsed painful conditions among veterans, we sought to characterize gender differences in sociodemographic and clinical correlates among veterans upon entry into Veterans Health Administration's Musculoskeletal Disorders Cohort (n = 4,128,008). RESULTS: Women were more likely to be younger, Black, unmarried, and veterans of recent conflicts...
March 18, 2017: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
https://www.readbyqxmd.com/read/28322279/pluripotent-stem-cells-in-neuropsychiatric-disorders
#5
REVIEW
M A Soliman, F Aboharb, N Zeltner, L Studer
Neuropsychiatric disorders place an enormous medical burden on patients across all social and economic ranks. The current understanding of the molecular and cellular causes of neuropsychiatric disease remains limited, which leads to a lack of targeted therapies. Human-induced pluripotent stem cell (iPSC) technology offers a novel platform for modeling the genetic contribution to mental disorders and yields access to patient-specific cells for drug discovery and personalized medicine. Here, we review recent progress in using iPSC technology to model and potentially treat neuropsychiatric disorders by focusing on the most prevalent conditions in psychiatry, including depression, anxiety disorders, bipolar disorder and schizophrenia...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28315968/the-efficacy-of-bipolar-sealer-on-blood-loss-in-spine-surgery-a-meta-analysis
#6
REVIEW
Tao Lan, Shi-Yu Hu, Xin-Jian Yang, Yang Chen, Yi-Yan Qiu, Wei-Zhuang Guo, Jian-Ze Lin, Kai Ren
OBJECTIVE: The purpose of this meta-analysis of randomized controlled trials (RCTs) and non-RCTs was to gather data to evaluate the efficacy and safety of bipolar sealer versus standard electrocautery in the management of spinal disease. METHODS: The electronic databases including Embase, PubMed and Cochrane library were searched to identify relevant studies published from the time of the establishment of these databases up to January 2017. The primary outcomes were total blood loss, requirement of transfusion (rate and amount), and operation time...
March 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28315278/peeking-into-sigma-1-receptor-functions-through-the-retina
#7
Timur A Mavlyutov, Lian-Wang Guo
This review discusses recent advances towards understanding the sigma-1 receptor (S1R) as an endogenous neuro-protective mechanism in the retina , a favorable experimental model system. The exquisite architecture of the mammalian retina features layered and intricately wired neurons supported by non-neuronal cells. Ganglion neurons, photoreceptors , as well as the retinal pigment epithelium, are susceptible to degeneration that leads to major retinal diseases such as glaucoma , diabetic retinopathy , and age-related macular degeneration (AMD), and ultimately, blindness...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28295046/transcriptomic-immaturity-of-the-hippocampus-and-prefrontal-cortex-in-patients-with-alcoholism
#8
Tomoyuki Murano, Hisatsugu Koshimizu, Hideo Hagihara, Tsuyoshi Miyakawa
Alcoholism, which is defined as the recurring harmful use of alcohol despite its negative consequences, has a lifetime prevalence of 17.8%. Previous studies have shown that chronic alcohol consumption disrupts various brain functions and behaviours. However, the precise mechanisms that underlie alcoholism are currently unclear. Recently, we discovered "pseudo-immature" brain cell states of the dentate gyrus and prefrontal cortex (PFC) in mouse models of psychotic disorders and epileptic seizure. Similar pseudo-immaturity has been observed in patients with psychotic disorders, such as schizophrenia and bipolar disorder...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28292279/the-quality-of-severe-mental-disorder-diagnoses-in-a-national-health-registry-as-compared-to-research-diagnoses-based-on-structured-interview
#9
Ragnar Nesvåg, Erik G Jönsson, Inger Johanne Bakken, Gun Peggy Knudsen, Thomas D Bjella, Ted Reichborn-Kjennerud, Ingrid Melle, Ole A Andreassen
BACKGROUND: Utilization of diagnostic information from national patient registries rests on the quality of the registered diagnoses. We aimed to investigate the agreement and consistency of diagnoses of psychotic and bipolar disorders in the Norwegian Patient Registry (NPR) compared to structured interview-based diagnoses given as part of a clinical research project. METHODS: Diagnostic data from NPR were obtained for the period 01.01.2008-31.12.2013 for all patients who had been included in the Thematically Organized Psychosis (TOP) study between 18...
March 14, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28290080/a-retrospective-cohort-study-of-acute-kidney-injury-risk-associated-with-antipsychotics
#10
Yawen Jiang, Jeffrey S McCombs, Susie H Park
BACKGROUND: A recent large database analysis raised concerns of potential acute kidney injury (AKI) risk associated with antipsychotics. However, whether individual atypical and typical antipsychotics are associated with differential AKI risks has not been investigated. OBJECTIVE: The current study compared the risks of AKI and known causes of AKI associated with a broad range of atypical and typical antipsychotics. METHOD: This retrospective cohort analysis used January 2007-June 2013 US nationwide Humana claims data to define episodes of antipsychotic drug therapy for patients with schizophrenia and bipolar disorder...
March 13, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28289782/neuro-psychopharmacological-perspective-of-orphan-receptors-of-rhodopsin-class-a-family-of-g-protein-coupled-receptors
#11
REVIEW
Muhammad Zahid Khan, Ling He
BACKGROUND: In the central nervous system (CNS), G protein-coupled receptors (GPCRs) are the most fruitful targets for neuropsychopharmacological drug development. Rhodopsin (class A) is the most studied class of GPCR and includes orphan receptors for which the endogenous ligand is not known or is unclear. Characterization of orphan GPCRs has proven to be challenging, and the production pace of GPCR-based drugs has been incredibly slow. OBJECTIVE: Determination of the functions of these receptors may provide unexpected insight into physiological and neuropathological processes...
March 13, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#12
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28285208/predictors-of-tobacco-abstinence-in-outpatient-smokers-with-schizophrenia-or-bipolar-disorder-treated-with-varenicline-and-cognitive-behavioral-smoking-cessation-therapy
#13
Randi M Schuster, Corinne Cather, Gladys N Pachas, Haiyue Zhang, Kristina M Cieslak, Susanne S Hoeppner, David Schoenfeld, A Eden Evins
BACKGROUND: The estimated mortality gap between those with and without serious mental illness (SMI) is increasing, now estimated at 28years, which is largely due to smoking-related diseases. AIMS: We sought to identify predictors of 14-day continuous abstinence in stable outpatient smokers with SMI. METHOD: Adult smokers with schizophrenia spectrum (n=130) or bipolar disorder (n=23) were enrolled in a 12-week course of varenicline and cognitive-behavioral therapy for smoking cessation...
February 24, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28283914/transurethral-resection-of-bladder-tumors-improving-quality-through-new-techniques-and-technologies
#14
REVIEW
Daniel Zainfeld, Siamak Daneshmand
PURPOSE OF REVIEW: Cystoscopy with transurethral resection of bladder tumors (TURBT) is essential in the diagnosis of bladder cancer as well as the management of non-muscle-invasive disease yet remains a comparatively imprecise procedure secondary to variability among patients, tumors, and surgeons alike. We will review evolving technologies and techniques used to enhance safety and efficacy of TURBT performance and education in the management of bladder cancer. RECENT FINDINGS: Though a generally safe procedure, efficacy of TURBT in terms of complete tumor excision, appropriate pathologic diagnosis, and absence of complications can vary significantly with direct impact on patient outcomes...
May 2017: Current Urology Reports
https://www.readbyqxmd.com/read/28282453/the-use-of-a-novel-signal-analysis-to-identify-the-origin-of-idiopathic-right-ventricular-outflow-tract-ventricular-tachycardia-during-sinus-rhythm-simultaneous-amplitude-frequency-electrogram-transformation-mapping
#15
Abigail Louise D Te, Satoshi Higa, Fa-Po Chung, Chin-Yu Lin, Men-Tzung Lo, Che-An Liu, Chen Lin, Yi-Chung Chang, Shih-Lin Chang, Li-Wei Lo, Yu-Feng Hu, Ta-Chuan Tuan, Tze-Fan Chao, Jonan Liao, Yao-Ting Chang, Chung-Hsing Lin, Yuan Hung, Shinya Yamada, Kuo-Li Pan, Yenn-Jiang Lin, Shih-Ann Chen
INTRODUCTION: The signal characteristics of intracardiac bipolar electrograms at the origin of idiopathic RVOT-VT during sinus rhythm remain unclear. OBJECTIVE: The study sought to develop a novel real-time/online technique, simultaneous amplitude frequency electrogram transformation (SAFE-T), to quantify and localize the diseased ventricular substrate in idiopathic RVOT-VT. METHODS: We retrospectively investigated the intracardiac bipolar recordings in 70 consecutive patients (26% male, mean age 42±12 years) who underwent successful radiofrequency catheter ablation of idiopathic RVOT-VT...
2017: PloS One
https://www.readbyqxmd.com/read/28282074/-epigenetics-2-0-the-multiple-faces-of-the-genome
#16
Marcelo Rubinstein
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development...
September 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28280483/outer-plexiform-layer-structures-are-not-altered-following-aav-mediated-gene-transfer-in-healthy-rat-retina
#17
Bert C Giers, Daniela Klein, Alexandra Mendes-Madeira, Carolina Isiegas, Birgit Lorenz, Silke Haverkamp, Knut Stieger
Ocular gene therapy approaches have been developed for a variety of different diseases. In particular, clinical gene therapy trials for RPE65 mutations, X-linked retinoschisis, and choroideremia have been conducted at different centers in recent years, showing that adeno-associated virus (AAV)-mediated gene therapy is safe, but limitations exist as to the therapeutic benefit and long-term duration of the treatment. The technique of vector delivery to retinal cells relies on subretinal injection of the vector solution, causing a transient retinal detachment...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28280345/screening-for-bipolar-disorder-among-migraineurs-the-impact-of-migraine-bipolar-disorder-comorbidity-on-disease-characteristics
#18
Yigit Kivilcim, Merih Altintas, Fusun Mayda Domac, Erkal Erzincan, Huseyin Gülec
PURPOSE: The aim of this study was to evaluate the prevalence of comorbid bipolar disorder (BD) among migraineurs and the impact of migraine-BD comorbidity on disease characteristics. PATIENTS AND METHODS: A total of 120 adult patients diagnosed with migraine at a single tertiary care center were included in this cross-sectional study. Data on sociodemographic and migraine-related characteristics, family history of psychiatric diseases, comorbid psychiatric diseases, and first-episode characteristics were recorded...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28275106/transfer-of-disrupted-in-schizophrenia-1-aggregates-between-neuronal-like-cells-occurs-in-tunnelling-nanotubes-and-is-promoted-by-dopamine
#19
Seng Zhu, Saïda Abounit, Carsten Korth, Chiara Zurzolo
The disrupted-in-schizophrenia 1 (DISC1) gene was identified as a genetic risk factor for chronic mental illnesses (CMI) such as schizophrenia, bipolar disorder and severe recurrent depression. Insoluble aggregated DISC1 variants were found in the cingular cortex of sporadic, i.e. non-genetic, CMI patients. This suggests protein pathology as a novel, additional pathogenic mechanism, further corroborated in a recent transgenic rat model presenting DISC1 aggregates. Since the potential role of aggregation of DISC1 in sporadic CMI is unknown, we investigated whether DISC1 undergoes aggregation in cell culture and could spread between neuronal cells in a prion-like manner, as shown for amyloid proteins in neurodegenerative diseases...
March 2017: Open Biology
https://www.readbyqxmd.com/read/28270387/statin-prescribing-for-people-with-severe-mental-illnesses-a-staggered-cohort-study-of-real-world-impacts
#20
R Blackburn, D Osborn, K Walters, M Falcaro, I Nazareth, I Petersen
OBJECTIVES: To estimate the 'real-world effectiveness of statins for primary prevention of cardiovascular disease (CVD) and for lipid modification in people with severe mental illnesses (SMI), including schizophrenia and bipolar disorder. DESIGN: Series of staggered cohorts. We estimated the effect of statin prescribing on CVD outcomes using a multivariable Poisson regression model or linear regression for cholesterol outcomes. SETTING: 587 general practice (GP) surgeries across the UK reporting data to The Health Improvement Network...
March 7, 2017: BMJ Open
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