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https://www.readbyqxmd.com/read/28813618/whole-exome-sequencing-identifies-novel-variants-for-tooth-agenesis
#1
N Dinckan, R Du, L E Petty, Z Coban-Akdemir, S N Jhangiani, I Paine, E H Baugh, A P Erdem, H Kayserili, H Doddapaneni, J Hu, D M Muzny, E Boerwinkle, R A Gibbs, J R Lupski, Z O Uyguner, J E Below, A Letra
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28810627/carthamin-yellow-inhibits-matrix-degradation-and-inflammation-induced-by-lps-in-the-intervertebral-disc-via-suppression-of-mapk-pathway-activation
#2
Bin Chen, Han-Tao Wang, Bo Yu, Ji-Dong Zhang, Yu Feng
Carthamin yellow (CY), which is a flavonoid compound isolated from safflower, has various pharmacological effects including promoting blood circulation to remove blood stasis and alleviating pain. CY is a herb used in Chinese traditional medicines. Intervertebral disc degeneration (IDD) is a common spinal disorder and degeneration of nucleus pulposus (NP) cells and inflammation are significant parts of the pathological cascade. The curative effect of CY on NP cells in association with degeneration and inflammation remains to be elucidated...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28807894/advances-in-the-diagnosis-and-management-of-neck-pain
#3
REVIEW
Steven P Cohen, W Michael Hooten
Neck pain imposes a considerable personal and socioeconomic burden-it is one of the top five chronic pain conditions in terms of prevalence and years lost to disability-yet it receives a fraction of the research funding given to low back pain. Although most acute episodes resolve spontaneously, more than a third of affected people still have low grade symptoms or recurrences more than one year later, with genetics and psychosocial factors being risk factors for persistence. Nearly half of people with chronic neck pain have mixed neuropathic-nociceptive symptoms or predominantly neuropathic symptoms...
August 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28807672/pharmacological-characterization-of-novel-synthetic-opioids-nso-found-in-the-recreational-drug-marketplace
#4
REVIEW
Michael H Baumann, Susruta Majumdar, Valerie Le Rouzic, Amanda Hunkele, Rajendra Uprety, Xi Ping Huang, Jin Xu, Bryan L Roth, Ying-Xian Pan, Gavril W Pasternak
Novel synthetic opioids (NSO) are increasingly encountered in illicit heroin and counterfeit pain pills. Many NSO are resurrected from older biomedical literature or patent applications, so limited information is available about their biological effects. Here we examined the pharmacology of three structurally-distinct NSO found in the recreational drug market: N-(1-(2-phenylethyl)-4-piperidinyl)-N-phenylbutyramide (butyrylfentanyl), 3,4-dichloro-N-[(1R,2R)-2-(dimethylamino)cyclohexyl]-N-methylbenzamide (U-47700) and 1-cyclohexyl-4-(1,2-diphenylethyl)piperazine (MT-45)...
August 11, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#5
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28805581/nonmotor-parkinson-s-and-future-directions
#6
Nataliya Titova, K Ray Chaudhuri
Nonmotor symptoms (NMS) of Parkinson's disease (PD) are integral to the condition largely regarded as a motor syndrome. A range of NMS underpin the prodromal stage of Parkinson's and are present with variable frequency, range, and nature across the whole journey of a patient with Parkinson's from the onset of the motor disease to palliative stage. These symptoms also are key determinants of quality of life of the patient as well as the carer. Despite this, recognition management and focused treatment of NMS of PD remain poor...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802918/genes-and-nonmotor-symptoms-in-parkinson-s-disease
#7
Ee-Wei Lim, Eng-King Tan
Published data on genetic risk factors of nonmotor symptoms (NMS) are relatively lacking since the first mutation responsible for Parkinson's disease (PD) being reported in 1996. This chapter provides a concise summary of genetic links to common individual NMS such as cognitive impairment, depression, psychosis, olfactory dysfunction, pain, and sleep disorders. Although some genetic variants such as apolipoprotein E and glucocerebrosidase demonstrate consistent links with certain NMS, it is difficult to draw definitive conclusions...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802544/a-role-of-the-endothelial-nitric-oxide-system-in-acute-renal-colic-caused-by-ureteral-stone
#8
Emre Bulbul, Elif Funda Sener, Nahide Ekici Gunay, Bahadir Taslidere, Elif Taslidere, Serhat Koyuncu, Nurullah Gunay
BACKGROUND AND AIMS: Endothelial nitric oxide synthase gene polymorphisms play a role in some pathophysiological processes. In this study, the possible effects of endothelial nitric oxide synthase gene polymorphisms on ureteral stone disease in patients who were admitted to the emergency department with severe pain due to renal colic are examined. MATERIALS AND METHODS: The study groups were designed as controls and patients. The control group was formed from the healthy volunteers who applied to the blood center next to the emergency service...
August 7, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28801372/multi-variant-genetic-panel-for-genetic-risk-of-opioid-addiction
#9
Keri Donaldson, Laurence Demers, Kirk Taylor, Joe Lopez, Sherman Chang
Over 116 million people worldwide have chronic pain and prescription dependence. In the US, opioids account for the majority of overdose deaths, and in 2014, almost 2 million Americans abused or were dependent on prescription opioids. Genetic factors may play a key role in opioid prescription addiction. Herein, we describe genetic variations between opioid addicted and non-addicted populations and derive a predictive model determining risk of opioid addiction. This case cohort study compares the frequency of 16 single nucleotide polymorphisms involved in the brain reward pathways in patients with and without opioid addiction...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28800217/engineering-antibody-reactivity-for-efficient-derivatization-to-generate-nav1-7-inhibitory-gptx-1-peptide-antibody-conjugates
#10
Kaustav Biswas, Thomas E Nixey, Justin K Murray, James R Falsey, Li Yin, Hantao Liu, Jacinthe Gingras, Brian E Hall, Brad Herberich, Jerry Ryan Holder, Hongyan Li, Joseph Ligutti, Min-Hwa Jasmine Lin, Dong Liu, Brian D Soriano, Marcus Soto, Linh Tran, Christopher M Tegley, Anrou Zou, Kannan Gunasekaran, Bryan D Moyer, Liz Doherty, Les P Miranda
The voltage-gated sodium channel NaV1.7 is a genetically-validated pain target under investigation for the development of analgesics. A therapeutic with a less frequent dosing regimen would be of value for treating chronic pain, however functional NaV1.7 targeting antibodies are not known. In this report we describe NaV1.7 inhibitory peptide-antibody conjugates as an alternate construct for potential prolonged channel blockade through chemical derivatization of engineered antibodies. We previously identified NaV1...
August 11, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28794556/keratin-17-mutations-in-four-families-from-india-with-pachyonychia-congenita
#11
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals...
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28783046/epiregulin-and-egfr-interactions-are-involved-in-pain-processing
#12
Loren J Martin, Shad B Smith, Arkady Khoutorsky, Claire A Magnussen, Alexander Samoshkin, Robert E Sorge, Chulmin Cho, Noosha Yosefpour, Sivaani Sivaselvachandran, Sarasa Tohyama, Tiffany Cole, Thang M Khuong, Ellen Mir, Dustin G Gibson, Jeffrey S Wieskopf, Susana G Sotocinal, Jean Sebastien Austin, Carolina B Meloto, Joseph H Gitt, Christos Gkogkas, Nahum Sonenberg, Joel D Greenspan, Roger B Fillingim, Richard Ohrbach, Gary D Slade, Charles Knott, Ronald Dubner, Andrea G Nackley, Alfredo Ribeiro-da-Silva, G Gregory Neely, William Maixner, Dmitri V Zaykin, Jeffrey S Mogil, Luda Diatchenko
The EGFR belongs to the well-studied ErbB family of receptor tyrosine kinases. EGFR is activated by numerous endogenous ligands that promote cellular growth, proliferation, and tissue regeneration. In the present study, we have demonstrated a role for EGFR and its natural ligand, epiregulin (EREG), in pain processing. We show that inhibition of EGFR with clinically available compounds strongly reduced nocifensive behavior in mouse models of inflammatory and chronic pain. EREG-mediated activation of EGFR enhanced nociception through a mechanism involving the PI3K/AKT/mTOR pathway and matrix metalloproteinase-9...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#13
Sarah Cohen, Fred Markham
Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28780368/atlanto-occipital-catheterization-of-young-rats-for-long-term-drug-delivery-into-the-lumbar-subarachnoid-space-combined-with-in-vivo-testing-and-electrophysiology-in-situ
#14
Olga Kopach, Volodymyr Krotov, Nana Voitenko
BACKGROUND: Catheterization has been widely used in neuroscience and pain research for local drug delivery. Though different modifications were developed, the use of young animals for spinal catheterization remains limited because of a little success rate. A reliable technique is needed to catheterize young animals aimed for in vivo testing combined with spinal cord electrophysiology, often limited by animal age, to facilitate pain research. NEW METHODS: We describe intrathecal catheterization of young rats (3-week-old) through atlanto-occipical approach for long-lasting drug delivery into the lumbar subarachnoid space...
August 2, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28779847/efficacy-of-intralesional-sodium-thiosulfate-injections-for-disabling-tumoral-calcinosis-two-cases
#15
J Goossens, M Courbebaisse, E Caudron, C Bahans, V Vacquerie, J Melchior, P Vergne Salle, C Moesch, M Daudon, V Frocht, P Richette, Hang-Korng Ea, V Guigonis
INTRODUCTION: Tumoral calcinosis (TC) is a difficult-to-treat complication that can occur during several diseases such as dermatomyositis or genetic hyperphosphatemia. It is a painful and disabling condition that can lead to local complications including joint mobility reduction, cutaneous ulceration and superinfection. For the largest lesions, the treatment relies essentially on surgery. Intravenous sodium thiosulfate (STS) is efficient to treat calciphylaxis in patients undergoing hemodialysis...
June 17, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28777869/-progress-in-genetic-research-on-psoriatic-arthritis
#16
Yan Ju, Erle Dang, Chunxiang Yang, Hongping Song
Psoriatic arthritis is a form of inflammatory arthritis found among patients with psoriasis, which can lead to pain, swelling or stiffness in one or more joints and even movement disorders. Epidemiological studies have shown a higher heritability for psoriatic arthritis compared with psoriasis vulgaris. With the evolvement of DNA sequencing, many genes have been associated with psoriasis vulgaris and psoriatic arthritis, which included MHC, TNF, LCE, IL23R, IL12B, TRAF3IP2 and TNFAIP3, though some, such as MHC, IL-13 and PTPN22, have been specifically associated with psoriatic arthritis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771594/patients-experiencing-statin-induced-myalgia-exhibit-a-unique-program-of-skeletal-muscle-gene-expression-following-statin-re-challenge
#17
Marshall B Elam, Gipsy Majumdar, Khyobeni Mozhui, Ivan C Gerling, Santiago R Vera, Hannah Fish-Trotter, Robert W Williams, Richard D Childress, Rajendra Raghow
Statins, the 3-hydroxy-3-methyl-glutaryl (HMG)-CoA reductase inhibitors, are widely prescribed for treatment of hypercholesterolemia. Although statins are generally well tolerated, up to ten percent of statin-treated patients experience myalgia symptoms, defined as muscle pain without elevated creatinine phosphokinase (CPK) levels. Myalgia is the most frequent reason for discontinuation of statin therapy. The mechanisms underlying statin myalgia are not clearly understood. To elucidate changes in gene expression associated with statin myalgia, we compared profiles of gene expression in skeletal muscle biopsies from patients with statin myalgia who were undergoing statin re-challenge (cases) versus those of statin-tolerant controls...
2017: PloS One
https://www.readbyqxmd.com/read/28771447/chronic-pancreatitis
#18
Dennis Yang, Chris E Forsmark
PURPOSE OF REVIEW: Summarize key clinical advances in chronic pancreatitis reported in 2016. RECENT FINDINGS: Early diagnosis of chronic pancreatitis remains elusive. Recent studies suggest that endoscopic ultrasound may be less accurate than previously thought and new MRI techniques may be helpful. Genetic predisposition may independently affect the clinical course of chronic pancreatitis and the risk for pancreatic cancer. Cigarette smoking may have a greater negative impact on chronic pancreatitis than previously thought and moderate alcohol consumption may be protective...
September 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28770976/non-steroidal-anti-inflammatory-drugs-nsaids-for-chronic-non-cancer-pain-in-children-and-adolescents
#19
REVIEW
Christopher Eccleston, Tess E Cooper, Emma Fisher, Brian Anderson, Nick Mr Wilkinson
BACKGROUND: Pain is a common feature of childhood and adolescence around the world, and for many young people, that pain is chronic. The World Health Organization guidelines for pharmacological treatments for children's persisting pain acknowledge that pain in children is a major public health concern of high significance in most parts of the world. While in the past pain was largely dismissed and was frequently left untreated, views on children's pain have changed over time, and relief of pain is now seen as important...
August 2, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28768314/low-dose-naltrexone-treatment-of-familial-benign-pemphigus-hailey-hailey-disease
#20
Omer Ibrahim, Sara R Hogan, Alok Vij, Anthony P Fernandez
Importance: Familial benign pemphigus, or Hailey-Hailey disease (HHD), is a rare and debilitating genetic dermatosis characterized by chronic, recurrent vesicles, erosions, and maceration in flexural areas. Despite the reported therapeutic modalities, such as topical and systemic corticosteroids, systemic immunomodulators, topical and systemic retinoids, and laser, HHD can still be markedly difficult to control. Objective: To assess low-dose naltrexone hydrochloride in the treatment of recalcitrant HHD...
August 2, 2017: JAMA Dermatology
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