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https://www.readbyqxmd.com/read/28922357/analysis-of-nuclear-and-organellar-genomes-of-plasmodium-knowlesi-in-humans-reveals-ancient-population-structure-and-recent-recombination-among-host-specific-subpopulations
#1
Ernest Diez Benavente, Paola Florez de Sessions, Robert W Moon, Anthony A Holder, Michael J Blackman, Cally Roper, Christopher J Drakeley, Arnab Pain, Colin J Sutherland, Martin L Hibberd, Susana Campino, Taane G Clark
The macaque parasite Plasmodium knowlesi is a significant concern in Malaysia where cases of human infection are increasing. Parasites infecting humans originate from genetically distinct subpopulations associated with the long-tailed (Macaca fascicularis (Mf)) or pig-tailed macaques (Macaca nemestrina (Mn)). We used a new high-quality reference genome to re-evaluate previously described subpopulations among human and macaque isolates from Malaysian-Borneo and Peninsular-Malaysia. Nuclear genomes were dimorphic, as expected, but new evidence of chromosomal-segment exchanges between subpopulations was found...
September 18, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#2
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28904010/vitamin-d-supplementation-to-palliative-cancer-patients-protocol-of-a-double-blind-randomised-controlled-trial-palliative-d
#3
Maria Helde-Frankling, Jenny Bergqvist, Caritha Klasson, Marie Nordström, Jonas Höijer, Peter Bergman, Linda Björkhem-Bergman
BACKGROUND: According to a small pilot study on palliative cancer patients at our ward, vitamin D supplementation had beneficial effects on pain (measured as opioid consumption), infections and quality of life (QoL) without having any significant side effects. OBJECTIVE: The primary objective of the 'Palliative-D' study is to test the hypothesis that vitamin D supplementation for 12 weeks reduces opioid consumption. The secondary objectives are to study if reduction of antibiotic consumption and fatigue as well as improvement in QoL assessments can be observed...
September 13, 2017: BMJ Supportive & Palliative Care
https://www.readbyqxmd.com/read/28903565/liquid-biopsies-the-clinics-and-the-molecules
#4
V Kubaczková, L Sedlarikova, B Bollová, V Sandecká, M Stork, L Pour, S Sevcikova
Unlike bone marrow biopsies, liquid biopsies represent a gentler, more accessible, less painful, repeatable and more comprehensive approach to get biologically relevant information about the entire tumor but also about treatment response and level of minimal residual disease. This is all possible since peripheral blood contains not only circulating tumor cells but also many circulating molecules of nucleic acids (microRNA, cell-free DNA, long non-coding RNA etc.). Multiple myeloma is a genetically heterogeneous disease characterized by multifocal tumor deposits in the bone marrow but also focal lesions elsewhere...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28899741/small-bowel-stenosis-a-manifestation-of-chronic-graft-versus-host-disease-in-children
#5
Mickael Tordjman, Marie Ouachee, Arnaud Bonnard, Bogdana Tilea, Karima Yakouben, Jerome Viala, Michel Peuchmaur, Dominique Berrebi
Digestive graft versus host disease (GVHD) is a frequent complication after bone marrow transplantation (BMT), but small bowel obstruction is an extremely rare event. We present herein the first pediatric series of 4 cases of small bowel obstruction after BMT with detailed gross, histological data and their genetic status of the NOD2 gene. All patients had a history of severe acute GVHD treated by immunosuppressive agents and/or infliximab (in 3 cases). Acute or progressively worsening abdominal pain accompanied by small bowel occlusion occurred 5-16months after graft and CT-scan revealed multiple small intestinal stenosis...
September 9, 2017: Human Pathology
https://www.readbyqxmd.com/read/28899466/-clinical-features-and-etfdh-mutations-of-children-with-late-onset-glutaric-aciduria-type-ii-a-report-of-two-cases
#6
Yan-Yang Cheng, Yue Tang, Ao-Jie Liu, Li Wei, Lan Lin, Jing Zhang, Liang Zhi
OBJECTIVE: To investigate the clinical and genetic features of two families with late-onset glutaric aciduria type II caused by ETFDH mutations. METHODS: Target gene sequence capture and next generation sequencing were used for sequencing of suspected patients and their family members. The patients' clinical features were retrospectively analyzed and literature review was performed. RESULTS: The probands of the two families had a clinical onset at the ages of 10 years and 5...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28898135/understanding-adolescent-low-back-pain-from-a-multidimensional-perspective-implications-for-management
#7
Peter O'Sullivan, Anne Smith, Darren Beales, Leon Straker
Synopsis Low back pain (LBP) is the leading cause of disability worldwide. It often begins in adolescence, setting a course for later life. We have tracked the time course of LBP in the Raine Study cohort from the age of 14 years into early adulthood. Our work highlights that LBP is already prevalent at 14 years increasing across adolescence and into early adulthood. It is often co-morbid with other musculoskeletal pain. For some adolescents LBP has little impact - while for others its impact includes care seeking, taking medication, taking time off school and work, as well as modifying physical and functional activity...
September 12, 2017: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/28895988/pain-in-women
#8
Inna Belfer
Men and women are different in response to experimental painful stimulation, in pain attitude such as reporting pain and pain coping behavior, in symptoms and signs of painful disorders and in response to pain treatment. Both acute and chronic pain conditions have diverse prevalence among the sexes. Overall, women have more than twice higher prevalence in painful disorders compared to men. Here I review putative mechanisms underlying sex differences in pain, including genetic factors that have sex-specific or sex-biased effects controlling pain and analgesia...
April 2017: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/28894385/genetic-and-epigenetic-epidemiology-of-chronic-widespread-pain
#9
REVIEW
Jasmine I Kerr, Andrea Burri
The etiology underlying chronic widespread pain (CWP) remains largely unknown. An integrative biopsychosocial model seems to yield the most promising explanations for the pathogenesis of the condition, with genetic factors also contributing to disease development and maintenance. Here, we conducted a search of studies investigating the genetic and epigenetic epidemiology of CWP through electronic databases including Web of Science, Medline, PubMed, EMBASE, and Google Scholar. Combinations of keywords including CWP, chronic pain, musculoskeletal pain, genetics, epigenetics, gene, twins, single-nucleotide polymorphism, genotype, and alleles were used...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28894358/therapy-with-pamidronate-in-children-with-osteogenesis-imperfecta
#10
Otilia Marginean, Raluca Corina Tamasanu, Niculina Mang, Ioana Mozos, Giorgiana Flavia Brad
Osteogenesis imperfecta (OI) is a genetic disease characterized by excessive bone fragility with fractures consecutive to minor trauma. Considering lack of standardization of therapy with pamidronate in children, it was our aim to present our experience over a period of 10 years regarding evolution and treatment in patients diagnosed with osteoporosis and OI. Nine patients diagnosed with OI were admitted to the First Pediatric Clinic, Timisoara. They were investigated (clinical, biomarkers of bone metabolism and imaging studies), and a quality-of-life questionnaire was used to evaluate the impact of OI...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28889010/pain-in-osteoarthritis-implications-for-optimal-management
#11
Anne-Priscille Trouvin, Serge Perrot
Pain is an ubiquitous symptom in osteoarticular diseases, occurring much more commonly than stiffness or disability. OA of the knee, hand, or hip affects around 20% of adults in various populations and is dramatically increasing in many countries, mostly related to age and obesity, leading to an increased number of people having OA pain, and creating a huge burden related to disability and health care costs. OA-related pain, has been classically considered to be a nociceptive pain condition. Clinicians have considered pain to be an alarm signal, correlated to the intensity of joint degradation...
September 6, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28885302/postinfection-irritable-bowel-syndrome-the-links-between-gastroenteritis-inflammation-the-microbiome-and-functional-disease
#12
Ian A Downs, Olga C Aroniadis, Libusha Kelly, Lawrence J Brandt
Postinfection irritable bowel syndrome (PI-IBS) is a diarrheal disease that develops after infectious gastroenteritis (IGE). Profound alterations in the microbiota accompany IGE yet only 10% of IGE patients progress to PI-IBS. This review explores research linking IGE severity, psychological comorbidity, PI-IBS, and the microbiome in various patient populations. Selective pressures caused by inflammation and increased gastrointestinal motility during gastroenteritis can alter intestinal bacterial phyla including Bacteroidetes, Firmicutes, and Proteobacteria...
September 6, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28884231/infant-brachial-neuritis-following-a-viral-prodrome-a-case-in-a-6-month-old-child-and-review-of-the-literature
#13
Oliver D Mrowczynski, Sara T Langan, Elias B Rizk
INTRODUCTION: Brachial neuritis, commonly known as Parsonage-Turner syndrome, affects two to three people per 100,000 and presents with pain and weakness of the arm and shoulder. Brachial neuritis is uncommon in infants. METHODS: Here, we present the case of a 6-month old female, who presented with right upper extremity weakness and paresis following a viral prodrome. We also present a summary of all reported cases of brachial neuritis in infants. RESULTS: This is the youngest case of brachial neuritis diagnosed at our institution...
September 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#14
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28881265/new-variants-near-rhoj-and-c2-hla-dra-region-and-susceptibility-to-endometriosis-in-the-polish-population-the-genome-wide-association-study
#15
Marta Sobalska-Kwapis, Beata Smolarz, Marcin Słomka, Tomasz Szaflik, Ewa Kępka, Bartosz Kulig, Anna Siewierska-Górska, Grzegorz Polak, Hanna Romanowicz, Dominik Strapagiel, Krzysztof Szyłło
OBJECTIVE: Endometriosis is a common gynaecological disease, associated with severe pelvic pain and reduced fertility; however, molecular mechanisms remain largely unknown. Genome-wide association studies (GWAS) are able to identify genetic loci, which can play significant role during endometriosis development. AIM: The study aimed at localisation of new genes and chromosomal loci, the nucleotide variants of which determine the level of susceptibility to endometriosis...
September 1, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28881160/effective-treatment-of-aggressive-fibromatosis-with-celecoxib-guided-by-genetic-testing
#16
Shanshan Yang, Xufu Wang, Haiping Jiang, Yongjie Wang, Zhuokun Li, Haijun Lu
Aggressive fibromatosis (AF) or desmoid tumors is an aggressive fibroblastic proliferation which is locally invasive but can not metastasize. The treatment of AF is challenging. Surgery was the main treatment modality for AF in the past, other strategies including radiotherapy, systemic therapies and wait-and-see policy. The use of non-steroidal anti-inflammatory drugs (NSAIDs) and targeted therapies has demonstrated good results. In the case report, a 39-year-old man presented with progressive chest wall pain...
September 7, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28880010/chronic-pancreatitis
#17
REVIEW
Jorg Kleeff, David C Whitcomb, Tooru Shimosegawa, Irene Esposito, Markus M Lerch, Thomas Gress, Julia Mayerle, Asbjørn Mohr Drewes, Vinciane Rebours, Fatih Akisik, J Enrique Domínguez Muñoz, John P Neoptolemos
Chronic pancreatitis is defined as a pathological fibro-inflammatory syndrome of the pancreas in individuals with genetic, environmental and/or other risk factors who develop persistent pathological responses to parenchymal injury or stress. Potential causes can include toxic factors (such as alcohol or smoking), metabolic abnormalities, idiopathic mechanisms, genetics, autoimmune responses and obstructive mechanisms. The pathophysiology of chronic pancreatitis is fairly complex and includes acinar cell injury, acinar stress responses, duct dysfunction, persistent or altered inflammation, and/or neuro-immune crosstalk, but these mechanisms are not completely understood...
September 7, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28878030/the-hyperpolarization-activated-cyclic-nucleotide-gated-channels-from-biophysics-to-pharmacology-of-a-unique-family-of-ion-channels
#18
REVIEW
Laura Sartiani, Guido Mannaioni, Alessio Masi, Maria Novella Romanelli, Elisabetta Cerbai
Hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels are important members of the voltage-gated pore loop channels family. They show unique features: they open at hyperpolarizing potential, carry a mixed Na/K current, and are regulated by cyclic nucleotides. Four different isoforms have been cloned (HCN1-4) that can assemble to form homo- or heterotetramers, characterized by different biophysical properties. These proteins are widely distributed throughout the body and involved in different physiologic processes, the most important being the generation of spontaneous electrical activity in the heart and the regulation of synaptic transmission in the brain...
October 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/28877966/t-cell-mediation-of-pregnancy-analgesia-affecting-chronic-pain-in-mice
#19
Sarah F Rosen, Boram Ham, Shannon Drouin, Nadia Boachie, Anne-Julie Chabot-Dore, Jean-Sebastien Austin, Luda Diatchenko, Jeffrey S Mogil
It has been consistently reported that many female chronic pain sufferers have an attenuation of symptoms during pregnancy. Rats display increased pain tolerance during pregnancy, due to an increase in opioid receptors in the spinal cord. These past studies did not consider the role of non-neuronal cells, now appreciated to play an important role in chronic pain processing. Using an inflammatory (complete Freund's adjuvant) or neuropathic (spared nerve injury) model of persistent pain, we observe that young adult female mice in early pregnancy switch from a micgrolia-independent to a microglia-dependent pain hypersensitivity mechanism...
September 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28877755/uric-acid-an-important-screening-tool-to-detect-inborn-errors-of-metabolism-a-case-series
#20
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment...
September 6, 2017: BMC Research Notes
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