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Pain genetic

Gernot Kriegshäuser, Dietmar Enko, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.MethodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.ResultsA total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Anja B Riber, Teresa M Casey-Trott, Mette S Herskin
This article reviews current knowledge about welfare implications of keel bone damage in laying hens. As an initial part, we shortly describe the different conditions and present major risk factors as well as findings on the prevalence of the conditions. Keel bone damage is found in all types of commercial production, however with varying prevalence across systems, countries, and age of the hens. In general, the understanding of animal welfare is influenced by value-based ideas about what is important or desirable for animals to have a good life...
2018: Frontiers in Veterinary Science
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
Zachary Curry, Jenny Wilkerson, Deniz Bagdas, Sarah Kyte, Nipa Patel, Giulia Donvito, Mohammed A Mustafa, Justin Poklis, Micah Niphakis, Ku-Lung Hsu, Benjamin F Cravatt, David A Gewirtz, M Imad Damaj, Aron H Lichtman
Although paclitaxel effectively treats various cancers, its debilitating peripheral neuropathic pain side effects often persist long after treatment has ended. Therefore, a compelling need exists for the identification of novel pharmacologic strategies to mitigate this condition. As inhibitors of monoacylglycerol lipase (MAGL), the primary hydrolytic enzyme of the endogenous cannabinoid 2-arachidonyolglycerol, produce antinociceptive effects in numerous rodent models of pain, we investigated whether inhibitors of this enzyme (i...
March 14, 2018: Journal of Pharmacology and Experimental Therapeutics
B Borghese, P Santulli, L Marcellin, C Chapron
Endometriosis and adenomyosis are histologically defined. The frequency of endometriosis cannot be precisely estimated in the general population. Endometriosis is considered a disease when it causes pain and/or infertility. Endometriosis is a heterogeneous disease with three well-recognized subtypes that are often associated with each other: superficial endometriosis (SUP), ovarian endometrioma (OMA), and deep infiltrating endometriosis (DIE). DIE is frequently multifocal and mainly affects the following structures: the uterosacral ligaments, the posterior vaginal cul-de-sac, the bladder, the ureters, and the digestive tract (rectum, recto-sigmoid junction, appendix)...
March 11, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
Ine Vandewauw, Katrien De Clercq, Marie Mulier, Katharina Held, Silvia Pinto, Nele Van Ranst, Andrei Segal, Thierry Voet, Rudi Vennekens, Katharina Zimmermann, Joris Vriens, Thomas Voets
Acute pain represents a crucial alarm signal to protect us from injury. Whereas the nociceptive neurons that convey pain signals were described more than a century ago, the molecular sensors that detect noxious thermal or mechanical insults have yet to be fully identified. Here we show that acute noxious heat sensing in mice depends on a triad of transient receptor potential (TRP) ion channels: TRPM3, TRPV1, and TRPA1. We found that robust somatosensory heat responsiveness at the cellular and behavioural levels is observed only if at least one of these TRP channels is functional...
March 14, 2018: Nature
István Z Bátai, Ádám Horváth, Erika Pintér, Zsuzsanna Helyes, Gábor Pozsgai
Transient receptor potential ankyrin 1 (TRPA1) non-selective ligand-gated cation channels are mostly expressed in primary sensory neurons. Polysulfides (POLYs) are Janus-faced substances interacting with numerous target proteins and associated with both protective and detrimental processes. Activation of TRPA1 in sensory neurons, consequent somatostatin (SOM) liberation and action on sst4 receptors have recently emerged as mediators of the antinociceptive effect of organic trisulfide dimethyl trisulfide (DMTS)...
2018: Frontiers in Endocrinology
Stuart K Kim, John P A Ioannidis, Marwa A Ahmed, Andrew L Avins, John P Kleimeyer, Michael Fredericson, Jason L Dragoo
Plantar fascial disorder is comprised of plantar fasciitis and plantar fibromatosis. Plantar fasciitis is the most common cause of heel pain, especially for athletes involved in running and jumping sports. Plantar fibromatosis is a rare fibrous hyperproliferation of the deep connective tissue of the foot. To identify genetic loci associated with plantar fascial disorders, a genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 21,624 cases of plantar fascial disorders and 80,879 controls...
March 13, 2018: International Journal of Sports Medicine
Jian Payandeh, David H Hackos
The voltage-gated sodium (Nav) channel Nav1.7 has been the focus of intense investigation in recent years. Human genetics studies of individuals with gain-of-function and loss-of-function mutations in the Nav1.7 channel have implicated Nav1.7 as playing a critical role in pain. Therefore, selective inhibition of Nav1.7 represents a potentially new analgesic strategy that is expected to be devoid of the significant liabilities associated with available treatment options. Although the identification and development of selective Nav channel modulators have historically been challenging, a number of recent publications has demonstrated progression of increasingly subtype-selective small molecules and peptides toward potential use in preclinical or clinical studies...
March 13, 2018: Handbook of Experimental Pharmacology
Shams Kholoussi, Naglaa Kholoussi, Moushira Erfan Zaki, Hala T El-Bassyouni, Hala Elnady, Botros Morcos, Asem Abo-Shanab
OBJECTIVE: This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients. PATIENTS AND METHODS: A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Jan Miechowiecki, Waltraud Stainer, Gertraud Wallner, Herwig Tuppy, Walter Aichinger, Wolfgang Prammer, Andreas Kirchgatterer
INTRODUCTION:  Immunosuppressive therapy is today's standard treatment of patients with moderate to severe inflammatory bowel disease (IBD). The risk for opportunistic infections is increased due to this therapy and is a concern in the management of patient with IBD undergoing such a treatment. CASE REPORT:  In this paper, we describe a case of an acute cytomegalovirus (CMV) infection in a 35-year-old male patient with Crohn's disease being in remission while receiving azathioprine therapy...
March 2018: Zeitschrift Für Gastroenterologie
Agnes Norbury, Ben Seymour
Response rates to available treatments for psychological and chronic pain disorders are poor, and there is a considerable burden of suffering and disability for patients, who often cycle through several rounds of ineffective treatment. As individuals presenting to the clinic with symptoms of these disorders are likely to be heterogeneous, there is considerable interest in the possibility that different constellations of signs could be used to identify subgroups of patients that might preferentially benefit from particular kinds of treatment...
2018: F1000Research
Kentaro Minami, Koji Kumagai, Yoshinao Sugai, Kohki Nakamura, Shigeto Naito, Shigeru Oshima
A 19-year-old man was referred due to sudden onset of right foot pain and chest discomfort. Contrast-enhanced computed tomography revealed massive thrombi in the right pulmonary artery and femoral vein. The patient's father had experienced multiple recurrences of venous thromboembolism (VTE) and was diagnosed with inherited antithrombin deficiency by a genetic examination. The patient was administered the oral factor Xa inhibitor rivaroxaban (30 mg). After seven days, the thrombus disappeared. Rivaroxaban (15 mg) was continued for 6 months with no recurrence, indicating the efficacy of this factor Xa inhibitor for the treatment and prevention of VTE in patients with antithrombin deficiency...
March 9, 2018: Internal Medicine
Andrea Burri, Soshiro Ogata
BACKGROUND: Genetic factors have been implicated in the etiology of female sexual dysfunction. Yet, how much the dynamic nature of sexual functioning is influenced by changes in genetic and/or environmental factors remains unknown. AIM: To explore temporal stability of genetic and environmental influences on female sexual functioning over a 4-year period. METHODS: Data on desire, arousal, lubrication, orgasm, satisfaction, and pain were collected in 2009 and 2013 using the Female Sexual Function Index and were available for 1,209 British twin women...
March 6, 2018: Journal of Sexual Medicine
David W Dodick
Migraine is a chronic paroxysmal neurological disorder characterised by multiphase attacks of head pain and a myriad of neurological symptoms. The underlying genetic and biological underpinnings and neural networks involved are coming sharply into focus. This progress in the fundamental understanding of migraine has led to novel, mechanism-based and disease-specific therapeutics. In this Seminar, the clinical features and neurobiology of migraine are reviewed, evidence to support available treatment options is provided, and emerging drug, device, and biological therapies are discussed...
March 6, 2018: Lancet
Xiaobin Wang, Mingxiang Zou, Jing Li, Bing Wang, Qianshi Zhang, Fubin Liu, Guohua Lü
Intervertebral disc (IVD) degeneration (IDD) is a major contributor to low back pain. During IDD progression, ROS can be produced in the form of H2 O2 in nucleus pulposus cells (NPCs) in response to elevated cytokines, leading to subsequent alternations of cell fate and metabolic processes. Genetic factors are considered as main contributors to IDD pathopoiesis. Herein, we investigated the detailed function and mechanism of H19, one of the most up-regulated lncRNAs in IDD specimens, in H2 O2 -induced cell senescence model in NPCs...
March 9, 2018: Journal of Cellular Biochemistry
Isabella Tabaro, Giuseppe Reimondo, Giangiacomo Osella, Caterina Aurizi, Pasquale Caraci, Luca Barbieri, Daniela Francesca Giachino, Fabio Sirchia, Massimo Terzolo
PURPOSE: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia...
March 7, 2018: Endocrine
Raymond Leung, Panos Thomas
Osteochondral defects (OCD) are rare conditions that usually present in young adolescents. The causes include trauma, inflammation, ischaemia, genetics and changes at secondary ossification centres. The case report presents a 27-year-old man with chronic intermittent left knee pain for about 3 years. He typically develops the symptom after prolonged standing or when rising from a prolonged seated position. An initial MRI scan in 2014 did not identify and report an OCD that was present in his left lateral tibial plateau...
March 7, 2018: BMJ Case Reports
N Bourdel, P Chauvet, M Canis
In this chapter we have examined the possibilities of screening endometriosis, both in the general population as well as in the target population. We then proposed decision trees, for primary and secondary care. Currently, there is not enough data in the literature to develop or organize a screening test for endometriosis. Screening for endometriosis is not recommended in the general population (level A). There is also no evidence to support systematic screening in a population with genetic risk factors (endometriosis in a relative), or with other clinical risk factors (increased menstrual volume, short cycles, early menarche) (level A)...
March 4, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
Bart Morlion, Flaminia Coluzzi, Dominic Aldington, Magdalena Kocot-Kepska, Joseph Pergolizzi, Ana Cristina Mangas, Karsten Ahlbeck, Eija Kalso
OBJECTIVE: Pain is one of the most common reasons for an individual to consult their primary care physician, with the majority of chronic pain being treated in the primary care setting. However, many primary care physicians/non-pain medicine specialists lack enough awareness, education and skills to manage pain patients appropriately, and there is currently no clear, common consensus/formal definition of `pain chronification'. METHODS: This article, based on an international Change Pain Chronic Advisory Board meeting which was held in Wiesbaden, Germany, in October 2016, provides primary care physicians/non-pain medicine specialists with a narrative overview of pain chronification, including underlying physiological and psychosocial processes, predictive factors for pain chronification, a brief summary of preventive strategies, and the role of primary care physicians and non-pain medicine specialists in the holistic management of pain chronification...
March 7, 2018: Current Medical Research and Opinion
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