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https://www.readbyqxmd.com/read/28231072/total-pancreatectomy-with-islet-autotransplantation-resolves-pain-in-young-children-with-severe-chronic-pancreatitis
#1
Melena D Bellin, Gregory P Forlenza, Kaustav Majumder, Megan Berger, Martin L Freeman, Gregory J Beilman, Ty B Dunn, Timothy L Pruett, Michael Murati, Joshua J Wilhelm, Marie Cook, David E R Sutherland, Sarah J Schwarzenberg, Srinath Chinnakotla
OBJECTIVES: Fear of diabetes and major surgery may prohibit referral of young children severely affected by pancreatitis for total pancreatectomy with islet autotransplant (TPIAT). We evaluated outcomes in our youngest TPIAT recipients, 3 to 8 years of age at surgery. METHODS: Medical records were reviewed for 17 children (9 girls) ages 8 years or younger undergoing TPIAT from 2000 to 2014. Most (14/17) had genetic risk factors for pancreatitis. Since 2006, TPIAT recipients were followed prospectively with health questionnaires including assessments of pain and narcotic use, and scheduled hemoglobin A1c (HbA1c) and mixed-meal tolerance tests (6 mL/kg Boost HP) before surgery, and at regular intervals after...
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#2
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28225781/chronic-pain-depression-and-cardiovascular-disease-linked-through-a-shared-genetic-predisposition-analysis-of-a-family-based-cohort-and-twin-study
#3
Oliver van Hecke, Lynne J Hocking, Nicola Torrance, Archie Campbell, Sandosh Padmanabhan, David J Porteous, Andrew M McIntosh, Andrea V Burri, Haruka Tanaka, Frances M K Williams, Blair H Smith
BACKGROUND: Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors...
2017: PloS One
https://www.readbyqxmd.com/read/28223722/to-screen-or-not-to-screen-celiac-antibodies-in-liver-diseases
#4
REVIEW
Janaína Luz Narciso-Schiavon, Leonardo Lucca Schiavon
Celiac disease (CD) is a systemic immune-mediated disorder triggered by dietary gluten in genetically predisposed individuals. The typical symptoms are anemia, diarrhea, fatigue, weight loss, and abdominal pain. CD has been reported in patients with primary sclerosing cholangitis, primary biliary cholangitis, autoimmune hepatitis, aminotransferase elevations, nonalcoholic fatty liver disease, hepatitis B, hepatitis C, portal hypertension and liver cirrhosis. We evaluate recommendations for active screening for CD in patients with liver diseases, and the effect of a gluten-free diet in these different settings...
February 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#5
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222192/blastocystis-subtyping-and-its-association-with-intestinal-parasites-in-children-from-different-geographical-regions-of-colombia
#6
Juan David Ramírez, Carolina Flórez, Mario Olivera, María Consuelo Bernal, Julio Cesar Giraldo
Blastocystis is a common enteric protist colonizing probably more than 1 billion people with a large variety of non-human hosts. Remarkable genetic diversity has been observed, leading to the subdivision of the genus into multiple subtypes (ST), some of which are exclusively found in non-human hosts. The aim of this study was to determine the distribution of Blastocystis STs/18S alleles in symptomatic (abdominal pain, anal pruritus, diarrhea, headache, nauseas and/or vomit) and asymptomatic children from nine geographical regions of Colombia...
2017: PloS One
https://www.readbyqxmd.com/read/28218802/non-invasive-ventilation-for-cystic-fibrosis
#7
REVIEW
Fidelma Moran, Judy M Bradley, Amanda J Piper
BACKGROUND: Non-invasive ventilation may be a means to temporarily reverse or slow the progression of respiratory failure in cystic fibrosis by providing ventilatory support and avoiding tracheal intubation. Using non-invasive ventilation, in the appropriate situation or individuals, can improve lung mechanics through increasing airflow and gas exchange and decreasing the work of breathing. Non-invasive ventilation thus acts as an external respiratory muscle. This is an update of a previously published review...
February 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28217686/pregnancy-related-osteoporosis-and-spinal-fractures
#8
Ka Yeong Yun, Si Eun Han, Seung Chul Kim, Jong Kil Joo, Kyu Sup Lee
Pregnancy-related osteoporosis is a very rare condition characterized by the occurrence of fracture during pregnancy or the puerperium. Despite its relative rarity, it can be a dangerous condition that causes severe back pain, height loss and disability. Normal physiologic changes during pregnancy, genetic or racial difference, obstetrical history and obstetrical disease, such as preterm labor or pregnancy-induced hypertension, are presumed risk factors of pregnancy-related osteooporosis. However, exact etiology and pathogenesis are uncertain...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28215878/neuroactive-steroids-and-ptsd-treatment
#9
REVIEW
Ann M Rasmusson, Christine E Marx, Suzanne L Pineles, Andrea Locci, Erica R Scioli-Salter, Yael I Nillni, Jennifer J Liang, Graziano Pinna
This review highlights early efforts to translate pre-clinical and clinical findings regarding the role of neuroactive steroids in stress adaptation and PTSD into new therapeutics for PTSD. Numerous studies have demonstrated PTSD-related alterations in resting levels or the reactivity of neuroactive steroids and their targets. These studies also have demonstrated substantial variability in the dysfunction of specific neuroactive steroid systems among PTSD subpopulations. These variabilities have been related to the developmental timing of trauma, severity and type of trauma, genetic background, sex, reproductive state, lifestyle influences such as substance use and exercise, and the presence of comorbid conditions such as depression and chronic pain...
February 12, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28212389/application-of-calibrated-forceps-for-assessing-mechanical-nociception-with-high-time-resolution-in-mice
#10
Hideki Kashiwadani, Yuichi Kanmura, Tomoyuki Kuwaki
In order to investigate the basic physiological mechanisms of pain and the anti-nociceptive effects of analgesics, development of pain assays in mice is critical due to the advances of genetic manipulation techniques. The von Frey hairs/Semmes-Weinstein monofilaments test (von Frey test) has long been applied to examine mechanical nociception in mice. Though the von Frey test is a well-established and standardized method, it is inappropriate to assess a rapid change in the nociceptive threshold because voluntary resting/sleeping states are necessary to examine the response...
2017: PloS One
https://www.readbyqxmd.com/read/28211588/is-this-back-pain-killing-me-all-cause-and-cardiovascular-specific-mortality-in-older-danish-twins-with-spinal-pain
#11
M Fernandez, E Boyle, J Hartvigsen, M L Ferreira, K M Refshauge, C G Maher, K Christensen, J L Hopper, P H Ferreira
BACKGROUND: Few studies have examined the potentially reduced life expectancy associated with spinal pain (i.e. low back and neck pain) in an ageing population, particularly after controlling for familial factors, including genetics. METHODS: We investigated whether spinal pain increased the rate of all-cause and disease-specific cardiovascular mortality in older Danish twins aged ≥70 years. Data from 4391 participants collected at baseline were linked with the Danish Cause of Death Registry with the study ending on 31 December 2014...
February 17, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28205449/variations-in-comt-and-ntrk2-influence-symptom-burden-in-women-undergoing-breast-cancer-treatment
#12
Erin E Young, Debra Lynch Kelly, Insop Shim, Kyle M Baumbauer, Angela Starkweather, Debra E Lyon
Women with breast cancer frequently report distressing symptoms during and after treatment that can significantly erode quality of life (QOL). Symptom burden among women with breast cancer is of complex etiology and is likely influenced by disease, treatment, and environmental factors as well as individual genetic differences. The purpose of the present study was to examine the relationships between genetic polymorphisms within Neurotrophic tyrosine kinase receptor 1 (NTRK1), Neurotrophic tyrosine kinase receptor 2 (NTRK2), and catechol-O-methyltransferase ( COMT) and patient symptom burden of QOL, pain, fatigue, anxiety, depression, and sleep disturbance before, during, and after treatment for breast cancer in a subset of participants ( N = 51) in a randomized clinical trial of a novel symptom-management modality for women with breast cancer undergoing chemotherapy...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28199729/spectrum-of-disease-associated-with-partial-lipodystrophy-pl-lessons-from-a-trial-cohort
#13
Nevin Ajluni, Rasimcan Meral, Adam H Neidert, Graham F Brady, Eric Buras, Barbara McKenna, Frank DiPaola, Thomas L Chenevert, Jeffrey F Horowitz, Colleen Buggs-Saxton, Amit R Rupani, Peedikayil E Thomas, Marwan K Tayeh, Jeffrey W Innis, M Bishr Omary, Hari Conjeevaram, Elif A Oral
CONTEXT: Partial lipodystrophy (PL) is associated with metabolic co-morbidities but may go undiagnosed as the disease spectrum is not fully described. OBJECTIVE: Define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics. DESIGN: Cross-sectional evaluation. PARTICIPANTS: 23 patients (22 with familial, one acquired, 78.3% female, aged 12-64 years) with PL and non-alcoholic fatty liver disease (NAFLD)...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28199203/neurogenetics-of-acute-and-chronic-opiate-opioid-abstinence-treating-symptoms-and-the-cause
#14
Kenneth Blum, Mark S Gold, William Jacobs, William Vaughn McCall, Marcelo Febo, David Baron, Kristina Dushaj, Zsolt Demetrovics, Rajendra D Badgaiyan
This review begins with a comprehensive history of opioid dependence and treatment in the United States. The focus is an evidence-based treatment model for opioid/opiate dependent individuals. The role of reward genetic polymorphisms and the epigenetic modifications that lead to vulnerability to use and misuse of opiates/opioid to treat pain are reviewed. The neurochemical mechanisms of acute opiate withdrawal and opiate/opioid reward mechanisms are explored with a goal of identifying specific treatment targets...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28197992/study-of-the-association-between-human-leukocyte-antigens-hla-and-pemphigus-vulgaris-in-brazilian-patients
#15
Julio M Gil, Raimar Weber, Claudia B Rosales, Helcio Rodrigues, Luiz U Sennes, Jorge Kalil, Azis Chagury, Ivan D Miziara
BACKGROUND: Pemphigus vulgaris is a mucocutaneous blistering autoimmune disease that manifests as painful blisters or erosions on the skin and/or mucosal surfaces. IgG autoantibodies target desmoglein, playing a major role in disease pathogenesis. Genetic predisposal to pemphigus vulgaris, especially the HLA DR and DQ alleles, has been known since the 1980s. The unique constitution of the Brazilian population favors exploratory genetic studies. METHODS: The study group included 51 patients with a confirmed diagnosis of pemphigus vulgaris from a tertiary hospital in Sao Paulo city, Sao Paulo, southeast Brazil...
February 15, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28197205/from-pathogenesis-clinical-manifestation-and-diagnosis-to-treatment-an-overview-on-autoimmune-pancreatitis
#16
REVIEW
Ou Cai, Shiyun Tan
Autoimmune pancreatitis (AIP) is a special type of chronic pancreatitis which is autoimmune mediated. The international consensus diagnostic criteria (ICDC) 2011 proposed two types of AIP: type I is associated with histological pattern of lymphoplasmacytic sclerosing pancreatitis (LPSP), characterized by serum IgG4 elevation, whereas type 2 is named idiopathic duct-centric pancreatitis (IDCP), with granulocytic epithelial lesion (GEL) and immunoglobulin G4 (IgG4) negative. The pathogenic mechanism is unclear now; based on genetic factors, disease specific or related antigens, innate and adaptive immunity may be involved...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28195063/generation-of-membrane-bound-catechol-o-methyl-transferase-deficient-mice-with-disctinct-sex-dependent-behavioral-phenotype
#17
A Tammimaki, A Aonurm-Helm, F P Zhang, M Poutanen, G Duran-Torres, A Garcia-Horsman, P T Mannisto
Catechol-O-methyltransferase (COMT) has two isoforms: soluble (S-COMT), which resides in the cytoplasm, and membrane-bound (MB-MT), anchored to intracellular membranes. COMT is involved in the O-methylation of L-DOPA, dopamine and other catechols. The exact role of MB-COMT is still mostly unclear. We wanted to create a novel genetically modified mouse model that specifically lacks MB-COMT activity and to study their behavioral phenotype. MB-COMT knock-in mutant mice were generated by introducing two point mutations in exon 2 of the Comt gene (ATGCTG->GAGCTC disabling the function of the P2 promoter and allowing only the P1-regulated S-COMT transcription...
December 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28193110/pontine-tegmental-cap-dysplasia-in-an-extremely-preterm-infant-and-review-of-the-literature
#18
Sylvie Picker-Minh, Sebastian Hartenstein, Hans Proquitté, Sebastian Fröhler, Vera Raile, Nadine Kraemer, Sarah Apeshiotis, Michael Leipoldt, Karim D Kalache, Deborah Morris-Rosendahl, Eugen Boltshauser, Wei Chen, Angela M Kaindl
Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasia born at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbrain defect and later identified as an early sign of pontine tegmental cap dysplasia in our patient...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28192073/recurrent-and-novel-mutations-in-the-ntrk1-gene-lead-to-rare-congenital-insensitivity-to-pain-with-anhidrosis-in-two-chinese-patients
#19
Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Lu-Jiao Li, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Peng Gao, Mei Li
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically diagnosed with CIPA. Increased serum bone resorption marker (β-CTX) levels and decreased BMD were observed in both patients...
February 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28191332/angiotensin-ii-type-1-receptor-gene-a1166c-polymorphism-was-not-associated-with-acute-coronary-syndrome-in-an-iranian-population
#20
Navid Delshad, Majid Ghayour-Mobarhan, Hamed Mirzaei, Kamal Razavi-Azarkhiavi, Mohsen Moohebati, Mitra Hassany, Jamal Kasaian, Mohammad Reza Etemadzadeh, Maryam Sadat Alavi, Javad Behravan
BACKGROUND: There are very limited data for Iranian populations on the predisposing genetic factors for acute coronary syndrome (ACS). OBJECTIVES: The objective of the present study was to investigate the association of the angiotensin II type 1 receptor (AT1R) gene polymorphism and ACS in an Iranian population. PATIENTS AND METHODS: This cross-sectional study was conducted among 263 subjects (97 men and 166 women). Patients (n = 128) aged 30 - 80 years with chest pain were recruited from the emergency department of Ghaem Hospital (Mashhad, Iran)...
November 2016: Iranian Red Crescent Medical Journal
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