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https://www.readbyqxmd.com/read/28530638/sodium-channel-nav1-9-mutations-associated-with-insensitivity-to-pain-dampen-neuronal-excitability
#1
Jianying Huang, Carlos G Vanoye, Alison Cutts, Y Paul Goldberg, Sulayman D Dib-Hajj, Charles J Cohen, Stephen G Waxman, Alfred L George
Voltage-gated sodium channel (NaV) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense pain. Previous studies on NaV1.7 and NaV1.8 established clear relationships between perturbations in channel function and divergent clinical phenotypes. By contrast, studies of NaV1.9 mutations have not revealed a clear relationship of channel dysfunction with the associated and contrasting clinical phenotypes. Here, we have elucidated the functional consequences of a NaV1...
May 22, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28522957/crohn-s-disease-and-smoldering-multiple-myeloma-a-case-report-and-literature-review
#2
So Young Park, Jae Min Kim, Hyun Joon Kang, Minje Kim, Jae Joon Han, Chi Hoon Maeng, Sun Kyung Baek, Hwi-Joong Yoon, Si-Young Kim, Hyo Jong Kim
Crohn's disease (CD) is a chronic inflammatory bowel disease (IBD) that presents with abdominal pain, weight loss, and diarrhea. Although the etiology has not been fully elucidated, both environmental and genetic causes are known to be involved. In chronic inflammatory conditions such as IBD, B lymphocytes are chronically stimulated, and they induce monoclonal expansion of plasma cells, sometimes resulting in monoclonal gammopathy of undetermined significance. Immunomodulators that are commonly used to control inflammation, such as tumor necrosis factor-α (TNF-α) blockers could increase the possibility of hematologic malignancy...
April 2017: Intestinal Research
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#3
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28514790/neuropathic-pain-phenotyping-by-international-consensus-neuroppic-for-genetic-studies-a-neupsig-systematic-review-delphi-survey-and-expert-panel-recommendations-erratum
#4
https://www.readbyqxmd.com/read/28507260/reprogramming-cells-from-gulf-war-veterans-into-neurons-to-study-gulf-war-illness
#5
Liang Qiang, Anand N Rao, Gustavo Mostoslavsky, Marianne F James, Nicole Comfort, Kimberly Sullivan, Peter W Baas
Gulf War illness (GWI), which afflicts at least 25% of veterans who served in the 1990-1991 war in the Persian Gulf, is thought to be caused by deployment exposures to various neurotoxicants, including pesticides, anti-nerve gas pills, and low-level nerve agents including sarin/cyclosarin. GWI is a multisymptom disorder characterized by fatigue, joint pain, cognitive problems, and gastrointestinal complaints. The most prominent symptoms of GWI (memory problems, poor attention/concentration, chronic headaches, mood alterations, and impaired sleep) suggest that the disease primarily affects the CNS...
May 16, 2017: Neurology
https://www.readbyqxmd.com/read/28506778/genetic-factors-explain-the-association-between-pain-catastrophizing-and-chronic-widespread-pain
#6
Soshiro Ogata, Frances Williams, Andrea Burri
This study aimed to clarify whether there are shared genetic and/or environmental factors explaining the strong link between pain catastrophizing (PC) and chronic widespread pain (CWP). Data were available for N = 1,109 female twins from TwinsUK. Information on self-reported CWP and PC was subject to variance component twin analysis. Heritabilities were 40% for PC and 77% for CWP. The genetic correlation between PC and CWP was rG = 0.40%, while no evidence of an environmental correlation could be detected (rE = 0...
May 12, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28506184/complications-of-psychotropic-and-pain-medications-in-an-ultrarapid-metabolizer-patient-at-the-upper-1-of-cytochrome-p450-cyp450-function-quantified-by-combinatorial-cyp450-genotyping
#7
Gualberto Ruaño, Karen Larsen, Mohan Kocherla, James Samuel Graydon, Jonathan Kost
A 44-year-old Caucasian woman presented with a history of empirical treatment with 20 pain and psychotropic medications, as well as dual comorbidity of intractable pain and depression. A multiple gain-of-function profile in the CYP450 family of cytochrome P450 (CYP450) drug metabolism isoenzymes was discovered. The patient was a homozygote of suprafunctional alleles for both CYP2D6 ((*)35/(*)35) and CYP2C19 ((*)17/(*)17) genes and functional alleles for CYP2C9 ((*)1/(*)1), which account for aggregate drug metabolism function at the upper 1% of the population...
May 16, 2017: Journal of Pain & Palliative Care Pharmacotherapy
https://www.readbyqxmd.com/read/28501905/investigation-of-pain-mechanisms-by-calcium-imaging-approaches
#8
REVIEW
Michael Anderson, Qin Zheng, Xinzhong Dong
Due to the complex circuitry and plethora of cell types involved in somatosensation, it is becoming increasingly important to be able to observe cellular activity at the population level. In addition, since cells rely on an intricate variety of extracellular factors, it is important to strive to maintain the physiological environment. Many electrophysiological techniques require the implementation of artificially-produced physiological environments and it can be difficult to assess the activity of many cells simultaneously...
May 13, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28500860/interventions-for-preventing-silent-cerebral-infarcts-in-people-with-sickle-cell-disease
#9
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Carolyn Doree, Miguel R Abboud
BACKGROUND: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Silent cerebral infarcts are the commonest neurological complication in children and probably adults with SCD. Silent cerebral infarcts also affect academic performance, increase cognitive deficits and may lower intelligence quotient...
May 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28498398/per2-is-downregulated-by-the-lps-induced-inflammatory-response-in-synoviocytes-in-rheumatoid-arthritis-and-is-implicated-in-disease-susceptibility
#10
Hwayoung Lee, Seong-Su Nah, Sung-Hae Chang, Hyung-Ki Kim, Jun-Tack Kwon, Sanghyun Lee, Ik-Hyun Cho, Sang Won Lee, Young Ock Kim, Seung-Jae Hong, Hak-Jae Kim
The clinical symptoms of rheumatoid arthritis (RA) present with circadian variation, with joint stiffness and pain more prominent in the early morning. The mammalian clock genes, which include circadian locomotor output cycles kaput, brain and muscle Arnt-like protein 1, period and cryptochrome, regulate circadian rhythms. In order to identify the association between genetic polymorphisms in the circadian clock gene period 2 (PER2) and RA, the present study genotyped three PER2 single nucleotide polymorphisms (SNPs), rs934945, rs6754875, and rs2304674, using genetic information from 256 RA patients and 499 control subjects...
May 11, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28496094/apical-hypertrophic-cardiomyopathy-case-report-and-literature-review
#11
Tanya Doctorian, William J Mosley, Bao Do
BACKGROUND Apical hypertrophic cardiomyopathy (ApHCM) is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and typically has a nonobstructive physiology. Its variable presentation and clinical course render ApHCM a commonly delayed or missed diagnosis. CASE REPORT A 53-year-old Caucasian woman presented with chronic progressive chest pain. She was initially started on treatment for acute coronary syndrome. Diagnosis of ApHCM was initially missed on echocardiography, but made on subsequent cardiac catheterization and cardiac MRI...
May 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28493529/pain-in-knee-osteoarthritis-is-associated-with-variation-in-the-neurokinin-1-substance-p-receptor-tacr1-gene
#12
S C Warner, D A Walsh, L L Laslett, R A Maciewicz, A Soni, D J Hart, W Zhang, K R Muir, E M Dennison, P Leaverton, E Rampersaud, C Cooper, T D Spector, F M Cicuttini, N K Arden, G Jones, M Doherty, A M Valdes
BACKGROUND: Substance P (SP) is a pain- and inflammation-related neuropeptide which preferentially binds to the neurokinin receptor 1 (NK1 ). SP and NK1 receptors have been implicated in joint pain, inflammation and damage in animal models and human studies of osteoarthritis (OA). The aim of this study was to test if genetic variation at the neurokinin 1 receptor gene (TACR1) is associated with pain in individuals with radiographic knee OA. METHODS: Participants from the Genetics of OA and Lifestyle study were used for the discovery group (n = 1615)...
May 11, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28492538/drosophila-caspase-activity-is-required-independently-of-apoptosis-to-produce-active-tnf-eiger-during-nociceptive-sensitization
#13
Juyeon Jo, Seol Hee Im, Daniel T Babcock, Srividya C Iyer, Felona Gunawan, Daniel N Cox, Michael J Galko
Tumor necrosis factor (TNF) signaling is required for inflammatory nociceptive (pain) sensitization in Drosophila and vertebrates. Nociceptive sensitization in Drosophila larvae following UV-induced tissue damage is accompanied by epidermal apoptosis and requires epidermal-derived TNF/Eiger and the initiator caspase, Dronc. Major gaps remain regarding TNF function in sensitization, including the relationship between apoptosis/tissue damage and TNF production, the downstream signaling in this context, and the target genes that modulate nociceptive behaviors...
May 11, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28488899/lifetime-prevalence-of-psychiatric-morbidities-suicidality-and-quality-of-life-in-a-community-population-with-the-bimodal-chronotype-a-nationwide-epidemiologic-study
#14
Won-Hyoung Kim, Doo-Young Jung, Joo-Young Lee, Sung-Man Chang, Hong-Jin Jeon, Jun-Young Lee, Seong-Jin Cho, Dong-Woo Lee, Jae-Nam Bae, Jin Pyo Hong, Maeng-Je Cho, Bong-Jin Hahm
Chronotypes are classified as morning, evening, or intermediate, but there are reports of a bimodal type. This study was undertaken to describe the characteristics of the bimodal chronotype and to explore relationships between the bimodal type and psychiatric disorders, fatigue, and quality of life. A total of 2389 subjects from a Korean national epidemiological survey of psychiatric disorders responded during face-to-face interviews. The Korean Composite International Diagnostic Interview was used to diagnose psychiatric disorders, and the Composite Scale of Morningness was used to assess chronotypes...
May 10, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28487808/urothelial-carcinoma-in-a-22-year-old-female-with-angelman-syndrome
#15
Jessica Pugh, R Keith Huffaker
A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, vomiting, and abdominal pain. She had an echogenic focus in her bladder noted on ultrasound. She was diagnosed with low grade urothelial carcinoma after cystoscopic evaluation with biopsy and was sent to urology for further treatment. Urothelial carcinoma is rare in individuals younger than age 40. Patients may present with gross hematuria. There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis...
2017: Case Reports in Urology
https://www.readbyqxmd.com/read/28485408/genetic-and-pharmacological-antagonism-of-nk1-receptor-prevents-opiate-abuse-potential
#16
A J Sandweiss, M I McIntosh, A Moutal, R Davidson-Knapp, J Hu, A K Giri, T Yamamoto, V J Hruby, R Khanna, T M Largent-Milnes, T W Vanderah
Development of an efficacious, non-addicting analgesic has been challenging. Discovery of novel mechanisms underlying addiction may present a solution. Here we target the neurokinin system, which is involved in both pain and addiction. Morphine exerts its rewarding actions, at least in part, by inhibiting GABAergic input onto substance P (SP) neurons in the ventral tegmental area (VTA), subsequently increasing SP release onto dopaminergic neurons. Genome editing of the neurokinin 1 receptor (NK1R) in the VTA renders morphine non-rewarding...
May 9, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28484512/developing-new-pharmacotherapeutic-approaches-to-treating-sickle-cell-disease
#17
Marilyn J Telen
Survival for patients with SCD has been prolonged by improvements in supportive care, including vaccinations, antibiotic prophylaxis, and overall medical management, including tra nsfusion. However, there remains only one approved, partially effective drug for sickle cell disease-hydroxyurea (hydroxycarbamide). The world desperately needs better ways of both treating and preventing the recurrent painful vaso-occlusive episodes pathognomonic of sickle cell disease as well as the end-organ damage that still leads inexorably to severely shortened life expectancies throughout the world...
February 2017: ISBT Science Series
https://www.readbyqxmd.com/read/28482390/-clinical-analysis-of-11-children-with-pancreatic-cystic-fibrosis
#18
G L Wang, C N Zhao, J Zhou, F H Yu, H Q Shen, J Zhang, S Y Zhao, X W Xu
Objective: To increase the recognition of pancreatic cystic fibrosis (PCF) in children and facilitate diagnosing and treatment of this rare entity. Method: This is a retrospective analysis of children who presented to Beijing Children's Hospital affiliated to Capital Medical University from January 2010 to December 2015. We describe their clinical features, laboratory testing and management. Result: Eleven children were diagnosed with PCF by genetic testing or sweat chloride test during these 5 years, including 4 boys and 7 girls...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28481944/a-consistent-and-potentially-exploitable-response-during-chondrogenesis-of-mesenchymal-stem-cells-from-osteoarthritis-patients-to-the-protein-encoded-by-the-susceptibility-gene-gdf5
#19
Madhushika Ratnayake, Maria Tselepi, Robert Bloxham, Frank Plöger, Louise N Reynard, John Loughlin
Osteoarthritis (OA) is a common joint disease characterised by the focal loss of the protective cartilage layer at the ends of the bones. It is painful, disabling, multifactorial and polygenic. The growth differentiation factor 5 gene GDF5 was one of the first reported OA susceptibility signals that showed consistent association to OA, with the transcript single nucleotide polymorphism (SNP) rs143383 demonstrating association in Asians and Europeans. The functional effect of the signal is reduced expression of the gene...
2017: PloS One
https://www.readbyqxmd.com/read/28481466/investigation-of-mthfr-gene-c677t-polymorphism-in-cardiac%C3%A2-syndrome-x-patients
#20
Cemre Kandaz, Burak Önal, Deniz Özen, Bülent Demir, A Gökhan Akkan, Sibel Özyazgan
BACKGROUND: Definition of Cardiac Syndrome X (CSX) refers to groups of patients with positive exercise stress test and normal epicardial coronary arteries on coronary angiography accompanied by chest pain. Although the etiology of CSX is not completely understood, there is a common consensus that its pathophysiology may be associated with endothelial dysfunction resulting in impaired coronary flow. Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases...
May 8, 2017: Journal of Clinical Laboratory Analysis
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