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Causation in medicine

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https://www.readbyqxmd.com/read/28214526/recent-advances-in-human-genetics-and-epigenetics-of-adiposity-pathway-to-precision-medicine
#1
Tove Fall, Michael Mendelson, Elizabeth K Speliotes
Obesity is a heritable trait that contributes to substantial global morbidity and mortality. Here, we summarize findings from the last decade of genetic and epigenetic research focused on unravelling the underpinnings of adiposity. More than 140 genetic regions are now known to influence adiposity traits. The genetics of general adiposity, as measured by body mass index, and that of abdominal obesity, as measured by waist to hip ratio, have distinct biological backgrounds. Expression of genes associated with general adiposity are enriched in the nervous system...
February 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28206990/a-familial-study-of-azoospermic-men-identifies-three-novel-causative-mutations-in-three-new-human-azoospermia-genes
#2
Moran Gershoni, Ron Hauser, Leah Yogev, Ofer Lehavi, Foad Azem, Haim Yavetz, Shmuel Pietrokovski, Sandra E Kleiman
PURPOSE: Up to 1% of all men experience azoospermia, a condition of complete absence of sperm in the semen. The mechanisms and genes involved in spermatogenesis are mainly studied in model organisms, and their relevance to humans is unclear because human genetic studies are very scarce. Our objective was to uncover novel human mutations and genes causing azoospermia due to testicular meiotic maturation arrest. METHODS: Affected and unaffected siblings from three families were subjected to whole-exome or whole-genome sequencing, followed by comprehensive bioinformatics analyses to identify mutations suspected to cause azoospermia...
February 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28206814/biomarkers-in-tumor-microenvironment-upregulation-of-fibroblast-activation-protein-%C3%AE-correlates-with-gastric-cancer-progression-and-poor-prognosis
#3
Mengmou Hu, Chengjia Qian, Ziwei Hu, Bojian Fei, Haibo Zhou
Gastric cancer is the third leading cause of cancer-related mortality worldwide. Recent evidence points to importance of cross talk between cancer cells and the surrounding stroma on gastric cancer progression. Tumor microenvironment biomarkers thus represent a new opportunity for diagnostics innovation. Reactive stromal fibroblasts selectively express the fibroblast activation protein alpha (FAP-α), a homodimeric integral membrane gelatinase that belongs to the serine protease family. We report here that FAP-α expression is significantly elevated in gastric cancer samples by more than fivefold (p < 0...
January 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28202295/feasibility-of-upright-patient-positioning-and-intubation-success-rates-at-two-academic-emergency-departments
#4
Joseph S Turner, Timothy J Ellender, Enola R Okonkwo, Tyler M Stepsis, Andrew C Stevens, Erik G Sembroski, Christopher S Eddy, Anthony J Perkins, Dylan D Cooper
OBJECTIVES: Endotracheal intubation is most commonly taught and performed in the supine position. Recent literature suggests that elevating the patient's head to a more upright position may decrease peri-intubation complications. However, there is little data on the feasibility of upright intubation in the emergency department. The goal of this study was to measure the success rate of emergency medicine residents performing intubation in supine and non-supine, including upright positions...
February 5, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28198756/utility-of-assessing-cytokine-levels-for-the-differential-diagnosis-of-pneumonia-in-a-pediatric-population
#5
Jian-Ming Zhou, Qing Ye
OBJECTIVES: Although pneumonia is easily diagnosed, determining the causative agent is difficult due to low pathogen detection rates. We performed a prospective observational study to evaluate the utility of measuring inflammatory cytokine levels to discriminate between pneumonia caused by typical bacteria, respiratory syncytial virus, or Mycoplasma pneumoniae in a pediatric population. DESIGN: Serum inflammatory cytokine levels at early stages of the disease were evaluated for pneumonia caused by the three different pathogenic microorganisms...
February 14, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28187957/discovery-of-n-2-aminoethyl-n-benzyloxyphenyl-benzamides-new-potent-trypanosoma-brucei-inhibitors
#6
Andriy Buchynskyy, J Robert Gillespie, Matthew A Hulverson, Joshua McQueen, Sharon A Creason, Ranae M Ranade, Nicole A Duster, Michael H Gelb, Frederick S Buckner
A phenotypic screen of a compound library for antiparasitic activity on Trypanosoma brucei, the causative agent of Human African Trypanosomiasis (HAT), led to the identification of N-(2-aminoethyl)-N-phenyl benzamides as a starting point for hit-to-lead medicinal chemistry. Eighty two analogues were prepared, which led to the identification of a set of highly potent N-(2-aminoethyl)-N-benzyloxyphenyl benzamides with the most potent compound 73 having an in vitro EC50=0.001μM. The compounds displayed drug-like properties when tested in a number of in vitro assays...
November 12, 2016: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28157411/novel-lipidomic-biomarkers-in-hyperlipidemia-and-cardiovascular-diseases-an-integrative-biology-analysis
#7
Sneha Rai, Sonika Bhatnagar
Lipidomics is a new frontier of omics research and offers much promise for new-generation biomarkers for common complex phenotypes such as hyperlipidemia (HL) and cardiovascular diseases (CVDs). HL is a disorder characterized by increased levels of blood lipids and is a well-established risk factor for CVD. Traditional clinical markers for prognosis of hyperlipidemic individuals are inadequate to forecast or diagnose cardiac events. In this expert review, lipidomic profiles from recent HL and CVD studies were compared with the normolipidemic profile prepared from the Standard Reference Material...
February 3, 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#8
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28119081/neuroprotective-effect-and-mechanism-of-daucosterol-palmitate-in-ameliorating-learning-and-memory-impairment-in-a-rat-model-of-alzheimer-s-disease
#9
Zhi-Hong Ji, Zhong-Qi Xu, Hong Zhao, Xin-Yu Yu
Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterized by progressive memory decline and cognitive impairment. Amyloid beta (Aβ) has been proposed as the causative role for the pathogenesis of AD. Accumulating evidence demonstrates that Aβ neurotoxicity is mediated by glutamate excitotoxicity. Daucosterol palmitate (DSP), a plant steroid with anti-glutamate excitotoxicity effect, was isolated from the anti-aging traditional Chinese medicinal herb Alpinia oxyphylla Miq. in our previous study...
March 2017: Steroids
https://www.readbyqxmd.com/read/28115076/cognitive-bias-and-the-creation-and-translation-of-evidence-into-clinical-practice
#10
REVIEW
Donald A Molony
The optimal translation of evidence into the clinical practice of nephrology follows validated evidence-based medicine (EBM) principles. Most importantly, the evidence-based medicine practitioner requires that the evidence, as much as possible, addresses in an unbiased manner clinical questions of importance to patients and reflects the truth. In this chapter, we evaluate how cognitive biases that affect medical decision making might systematically bias the overall management of patients with kidney disease and, thus, distort the observations about disease causation, prognosis, diagnosis, and management that are derived from analysis of administrative databases or electronic medical records of health care systems...
November 2016: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#11
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28100272/bibliometric-analysis-of-literature-on-toxic-epidermal-necrolysis-and-stevens-johnson-syndrome-1940-2015
#12
Waleed M Sweileh
BACKGROUND: Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse skin reactions that affect all age groups. In order to better understand literature on this topic, we conducted a bibliometric study using Scopus database to shed light on number and growth of publications, most active countries, institutions, journals and authors involved in publishing articles in this field, citation analysis, top cited articles, international collaboration, role of medications and genetic association...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28092685/precision-oncology-for-acute-myeloid-leukemia-using-a-knowledge-bank-approach
#13
Moritz Gerstung, Elli Papaemmanuil, Inigo Martincorena, Lars Bullinger, Verena I Gaidzik, Peter Paschka, Michael Heuser, Felicitas Thol, Niccolo Bolli, Peter Ganly, Arnold Ganser, Ultan McDermott, Konstanze Döhner, Richard F Schlenk, Hartmut Döhner, Peter J Campbell
Underpinning the vision of precision medicine is the concept that causative mutations in a patient's cancer drive its biology and, by extension, its clinical features and treatment response. However, considerable between-patient heterogeneity in driver mutations complicates evidence-based personalization of cancer care. Here, by reanalyzing data from 1,540 patients with acute myeloid leukemia (AML), we explore how large knowledge banks of matched genomic-clinical data can support clinical decision-making. Inclusive, multistage statistical models accurately predicted likelihoods of remission, relapse and mortality, which were validated using data from independent patients in The Cancer Genome Atlas...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28091407/clinical-characteristics-of-patients-with-drug-induced-liver-injury
#14
Li-Xia Yang, Cheng-Yuan Liu, Lun-Li Zhang, Ling-Ling Lai, Ming Fang, Chong Zhang
BACKGROUND: Drug is an important cause of liver injury and accounts for up to 40% of instances of fulminant hepatic failure. Drug-induced liver injury (DILI) is increasing while the diagnosis becomes more difficult. Though many drugs may cause DILI, Chinese herbal medicines have recently emerged as a major cause due to their extensive use in China. We aimed to provide drug safety information to patients and health carers by analyzing the clinical and pathological characteristics of the DILI and the associated drug types...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28059928/clozapine-usage-increases-the-incidence-of-pneumonia-compared-with-risperidone-and-the-general-population-a-retrospective-comparison-of-clozapine-risperidone-and-the-general-population-in-a-single-hospital-over-25-months
#15
Zachary R Stoecker, Wales T George, Jeffrey B O'Brien, Jon Jancik, Eduardo Colon, Joseph J Rasimas
The aim of this study was to determine whether the incidence of pneumonia in patients taking clozapine was more frequent compared with those taking risperidone or no atypical antipsychotics at all before admission to a tertiary care medical center. This was a retrospective, case-matched study of 465 general medicine patients over a 25 month period from 1 July 2010 to 31 July 2012. Detailed electronic medical records were analyzed to explore the association between the use of two atypical antipsychotics and incidence of pneumonia...
January 4, 2017: International Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28043490/antimycobacterial-activity-of-medicinal-plants-against-the-causative-agent-of-buruli-ulcer-mycobacterium-ulcerans
#16
R Keumoe, M S Nguembou, F P V Tsouh, D V F Donkeng, D Dize, Y L R Tchokouaha, M C D Jiatsa, F R D Youmsi, B Ngameni, B F Fekam
OBJECTIVE/BACKGROUND: Buruli ulcer, known as necrotizing skin disease caused by Mycobacterium ulcerans, has emerged as the most prevalent mycobacteriosis after leprosy and tuberculosis. Accordingly, it has been classified by the World Health Organization as a neglected disease with high significance in tropical areas, including Cameroon. So far, the control of the disease relies mainly on the rifampin-streptomycin combination. Despite its efficiency, it has shown considerable issues, including availability and side effects...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28036233/shared-and-distinct-aspects-of-the-sepsis-transcriptomic-response-to-fecal-peritonitis-and-pneumonia
#17
Katie L Burnham, Emma E Davenport, Jayachandran Radhakrishnan, Peter Humburg, Anthony C Gordon, Paula Hutton, Eduardo Svoren-Jabalera, Christopher Garrard, Adrian Vs Hill, Charles J Hinds, Julian C Knight
RATIONALE: Heterogeneity in the septic response has hindered efforts to understand pathophysiology and develop targeted therapies. Source of infection, with different causative organisms and temporal changes, might influence this heterogeneity. OBJECTIVES: To investigate individual and temporal variation in the transcriptomic response to sepsis due to fecal peritonitis, and to compare with community acquired pneumonia. METHODS: We performed genome-wide gene expression profiling in peripheral blood leukocytes for adult patients admitted to intensive care with sepsis due to fecal peritonitis (n=117) or community acquired pneumonia (n=126), and non-septic controls (n=10)...
December 30, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27993012/rational-design-of-small-molecules-targeting-oncogenic-noncoding-rnas-from-sequence
#18
Matthew D Disney, Alicia J Angelbello
The discovery of RNA catalysis in the 1980s and the dissemination of the human genome sequence at the start of this century inspired investigations of the regulatory roles of noncoding RNAs in biology. In fact, the Encyclopedia of DNA Elements (ENCODE) project has shown that only 1-2% of the human genome encodes protein, yet 75% is transcribed into RNA. Functional studies both preceding and following the ENCODE project have shown that these noncoding RNAs have important roles in regulating gene expression, developmental timing, and other critical functions...
December 20, 2016: Accounts of Chemical Research
https://www.readbyqxmd.com/read/27992217/urea-derivatives-of-2-aryl-benzothiazol-5-amines-a-new-class-of-potential-drugs-for-human-african-trypanosomiasis
#19
Donald A Patrick, J Robert Gillespie, Joshua McQueen, Matthew A Hulverson, Ranae M Ranade, Sharon A Creason, Zackary M Herbst, Michael H Gelb, Frederick S Buckner, Richard R Tidwell
A previous publication from this lab (Patrick, et al. Bioorg. Med. Chem. 2016, 24 , 2451 - 2465 ) explored the antitrypanosomal activities of novel derivatives of 2-(2-benzamido)ethyl-4-phenylthiazole (1), which had been identified as a hit against Trypanosoma brucei, the causative agent of human African trypanosomiasis. While a number of these compounds, particularly the urea analogues, were quite potent, these molecules as a whole exhibited poor metabolic stability. The present work describes the synthesis of 65 new analogues arising from medicinal chemistry optimization at different sites on the molecule...
February 9, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27976538/cryopreservation-and-hypothermic-storage-of-lacrimal-gland-towards-enabling-delivery-of-regenerative-medicine-therapies-for-treatment-of-dry-eye-syndrome
#20
I Massie, K Spaniol, G Geerling, S Schrader
Severe dry eye syndrome (DES) can cause painful loss of vision and may result from lacrimal gland dysfunction. Current treatments are palliative, so a causative therapy is desirable. The ability to (cryo)preserve lacrimal gland tissue or epithelial cells would simplify this. Here, lacrimal gland tissue was cryopreserved in 10% dimethylsulphoxide in liquid nitrogen, or stored at 4 °C in culture medium for up to 7 days, and compared with fresh tissue using immunohistochemistry. Cultures were initiated from fresh and stored tissue, and cells characterised in P1 for proliferation (WST-1), colony-forming efficiency (CFE) and secretory capacity (immunocytochemistry and β-hexosaminidase activity assay)...
December 14, 2016: Journal of Tissue Engineering and Regenerative Medicine
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