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https://www.readbyqxmd.com/read/28647521/heterotopic-ossification-of-the-peroneus-brevis-tendon-in-a-pediatric-patient
#1
Karan Dua, James M Barsi
Heterotopic ossification (HO) is abnormal formation of mature lamellar bone in soft tissues. HO is most commonly diagnosed in the setting of localized trauma, which results in improper differentiation of progenitor cells, leading to aberrant tissue formation. In the pediatric population, nongenetic causes of HO have rarely been reported, especially HO involving the tendons of the ankle. We present a case of HO of the peroneus brevis tendon without systemic disease in a pediatric patient. The patient was a 7-year-old female with a normal birth and developmental history who first presented 6 weeks after a right ankle sprain with pain localized to the lateral calcaneus...
June 21, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28647472/-acute-fatty-liver-of-pregnancy-and-mitochondrial-fatty-acid-oxidation-consequences-for-the-offspring
#2
B Anon, C Barbet, C Gendrot, F Labarthe, Y Bacq
Acute fatty liver of pregnancy (AFLP) is a rare liver disease unique to pregnancy that can lead to acute liver failure. The prognosis, initially often fatal for both mother and child, has been improved by prompt delivery. The diagnosis should be highly suspected if the mother presents epigastric pain, nausea and/or vomiting, or polyuria-polydipsia in the third trimester of pregnancy. AFLP has been found associated with a genetic deficiency of fatty acid beta-oxidation, which may cause sudden death in infancy...
June 21, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28645932/a-functional-nav1-7-navab-chimera-with-a-reconstituted-high-affinity-protx-ii-binding-site
#3
Ramkumar Rajamani, Sophie Wu, Iyoncy Rodrigo, Mian Gao, Simon Low, Lisa Megson, David Wensel, Rick Pieschl, Debra Post-Munson, John Watson, David R Langley, Michael Ahlijanian, Linda Bristow, James Herrington
NaV1.7 is genetically implicated in human pain perception. Rare gain of function mutations in NaV1.7 lead to spontaneous pain in humans whereas loss of function mutations result in congenital insensitivity to pain (CIP). Hence, agents that specifically modulate the function of NaV1.7 have the potential to yield novel therapeutics to treat pain. The complexity of the channel and the challenges to generate recombinant cell lines with high NaV1.7 expression have led to a templated target strategy approach employing chimeras with the bacterial channel, NavAb...
June 23, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28645128/-headache-news
#4
Hans-Christoph Diener, Charly Gaul, Dagny Holle-Lee, Lazaros Lazaridis, Steffen Nägel, Mark Obermann
A review of the latest and most relevant information on different disorders of head and facial pain is presented. News from epidemiologic studies regarding the relationship between migraine and patent foramen ovale, the cardiovascular risk in migraine, and migraine behavior during menopause, and the development of white matter lesions or migraine genetics are presented. Regarding pathophysiology there are very recent insights regarding the role of the hypothalamus during prodromal phase and the interplay of brain-stem and hypothalamus during the attack...
June 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#5
J C Nickel, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, L R Iwasaki
OBJECTIVE: A second focused workshop explored how to transfer novel findings into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Participants met in West Palm Beach (Florida, USA), on 9-11 September 2016 for the Consortium for Orthodontic Advances in Science and Technology 2016 Innovators' Workshop (COAST). Approximately 65 registered attendees considered and discussed information from 27 to 34 speakers, 8 to 15 poster presenters and four lunch-hour focus group leaders...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643631/the-anopheles-gambiae-2la-chromosome-inversion-is-associated-with-susceptibility-to-plasmodium-falciparum-in-africa
#6
Michelle M Riehle, Tullu Bukhari, Awa Gneme, Wamdaogo M Guelbeogo, Boubacar Coulibaly, Abdrahamane Fofana, Adrien Pain, Emmanuel Bischoff, Francois Renaud, Abdoul H Beavogui, Sekou F Traore, N'Fale Sagnon, Kenneth D Vernick
Chromosome inversions suppress genetic recombination and establish co-adapted gene complexes, or supergenes. The 2La inversion is a widespread polymorphism in the Anopheles gambiae species complex, the major African mosquito vectors of human malaria. Here we show that alleles of the 2La inversion are associated with natural malaria infection levels in wild-captured vectors from West and East Africa. Mosquitoes carrying the more-susceptible allele (2L+(a)) are also behaviorally less likely to be found inside houses...
June 23, 2017: ELife
https://www.readbyqxmd.com/read/28640085/familial-lumbar-scheuermann-disease-with-idiopathic-scoliosis-in-china-first-case-report
#7
Yuliang Dai, Yawei Li, Pengzhi Li, Lei Li, Zhiming Tu, Bing Wang
RATIONALE: Given that Scheuermann disease rarely occurs in the lumbar region and that the co-occurrence of Scheuermann disease and idiopathic scoliosis (IS) has not been reported-the etiology of Scheuermann disease and IS is not clear. In this case report, we present familaiar lumbar Scheuermann disease with IS, in a Chinese proband, who was successfully treated with surgery. PATIENT CONCERNS: A 16-year-old boy presented at the Second XiangYa Hospital of Central South University with a chief complaint of kyphotic deformity in the lower back for 4 years and obvious lower back pain...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28640080/immature-enteric-ganglion-cells-were-observed-in-a-13-year-old-colon-signet-ring-cell-carcinoma-patient-a-case-report-and-literature-review
#8
Huili Li, Kun Huang, Hui Wang, Lin Wang, Ming Yang, Lixia Wang, Rong Lin, Hongli Liu, Jinbo Gao, Xiaoming Shuai, Xinghua Liu, Kaixiong Tao, Guobin Wang, Zheng Wang
RATIONALE: All the enteric ganglion cells are fully mature by 2 to 5 years of age in human. No one had reported the presentation of immature enteric ganglion cells in elder ones. Colorectal carcinoma is also rare in the adolescent population. The coincidence of these 2 rare events in a 13-year-old boy has never been reported elsewhere, which may suggest some linkage between them. PATIENT CONCERN: A 13-year-old boy presented with progressive abdominal pain and melena for 3 months...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28637770/analgesia-and-opioids-a-pharmacogenetics-shortlist-for-implementation-in-clinical-practice
#9
REVIEW
Maja Matic, Saskia N de Wildt, Dick Tibboel, Ron H N van Schaik
BACKGROUND: The use of opioids to alleviate pain is complicated by the risk of severe adverse events and the large variability in dose requirements. Pharmacogenetics (PGx) could possibly be used to tailor pain medication based on an individual's genetic background. Many potential genetic markers have been described, and the importance of genetic predisposition in opioid efficacy and toxicity has been demonstrated in knockout mouse models and human twin studies. Such predictors are especially of value for neonates and young children, in whom the assessment of efficacy or side effects is complicated by the inability of the patient to communicate this properly...
June 21, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28637279/high-dimensional-multivariate-mediation-with-application-to-neuroimaging-data
#10
Oliver Y Chén, Ciprian Crainiceanu, Elizabeth L Ogburn, Brian S Caffo, Tor D Wager, Martin A Lindquist
Mediation analysis is an important tool in the behavioral sciences for investigating the role of intermediate variables that lie in the path between a treatment and an outcome variable. The influence of the intermediate variable on the outcome is often explored using a linear structural equation model (LSEM), with model coefficients interpreted as possible effects. While there has been significant research on the topic, little work has been done when the intermediate variable (mediator) is a high-dimensional vector...
June 15, 2017: Biostatistics
https://www.readbyqxmd.com/read/28636724/temporal-relationships-between-job-strain-and-low-back-pain
#11
Linda L Magnusson Hanson, Ida Eh Madsen, Reiner Rugulies, Paraskevi Peristera, Hugo Westerlund, Alexis Descatha
Objectives Psychosocial working conditions are suggested risk factors for low-back pain, but it is unclear whether these associations are causal. The present study examined whether there are lagged and bidirectional associations between job strain and low-back pain and further controlled for unmeasured time-invariant confounding. Methods The study was based on four biennial waves of data from the Swedish Longitudinal Occupational Survey of Health (SLOSH), including 3084 men and women. Cross-lagged analyses using structural equation modeling (SEM) were conducted on job strain, a combination of high job demands and low control, and any as well as low-back pain severity (how much any problems affected the respondents life)...
June 21, 2017: Scandinavian Journal of Work, Environment & Health
https://www.readbyqxmd.com/read/28635081/understanding-and-improving-photo-control-of-ion-channels-in-nociceptors-with-azobenzene-photoswitches
#12
Alexandre Mourot, Christian Herold, Michael A Kienzler, Richard H Kramer
BACKGROUND AND PURPOSE: We previously developed a photoisomerizable local anaesthetic, named QAQ, to gain rapid, optical control over pain signaling without involving genetic modification. In darkness or in green light, trans-QAQ blocks voltage-gated K(+) and Na(+) channels and silences action potentials in pain-sensing neurons. Upon photoisomerization to cis with near UV light, QAQ blockade is rapidly relieved and neuronal activity is restored. However, the molecular mechanism of cis and trans QAQ blockade is not known...
June 20, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28631758/bioengineered-constructs-combined-with-exercise-enhance-stem-cell-mediated-treatment-of-volumetric-muscle-loss
#13
Marco Quarta, Melinda Cromie, Robert Chacon, Justin Blonigan, Victor Garcia, Igor Akimenko, Mark Hamer, Patrick Paine, Merel Stok, Joseph B Shrager, Thomas A Rando
Volumetric muscle loss (VML) is associated with loss of skeletal muscle function, and current treatments show limited efficacy. Here we show that bioconstructs suffused with genetically-labelled muscle stem cells (MuSCs) and other muscle resident cells (MRCs) are effective to treat VML injuries in mice. Imaging of bioconstructs implanted in damaged muscles indicates MuSCs survival and growth, and ex vivo analyses show force restoration of treated muscles. Histological analysis highlights myofibre formation, neovascularisation, but insufficient innervation...
June 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28629675/misdiagnosis-is-an-important-factor-for-diagnostic-delay-in-mcardle-disease
#14
Renata Siciliani Scalco, Jasper M Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45)...
May 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629594/the-discovery-of-benzoxazine-sulfonamide-inhibitors-of-nav1-7-tools-that-bridge-efficacy-and-target-engagement
#15
Daniel S La, Emily A Peterson, Christiane Bode, Alessandro A Boezio, Howard Bregman, Margaret Y Chu-Moyer, James Coats, Erin F DiMauro, Thomas A Dineen, Bingfan Du, Hua Gao, Russell Graceffa, Hakan Gunaydin, Angel Guzman-Perez, Robert Fremeau, Xin Huang, Christopher Ilch, Thomas J Kornecook, Charles Kreiman, Joseph Ligutti, Min-Hwa Jasmine Lin, Jeff S McDermott, Isaac Marx, David J Matson, Stefan I McDonough, Bryan D Moyer, Hanh Nho Nguyen, Kristin Taborn, Violeta Yu, Matthew M Weiss
The voltage-gated sodium channel NaV1.7 has received much attention from the scientific community due to compelling human genetic data linking gain- and loss-of-function mutations to pain phenotypes. Despite this genetic validation of NaV1.7 as a target for pain, high quality pharmacological tools facilitate further understanding of target biology, establishment of target coverage requirements and subsequent progression into the clinic. Within the sulfonamide class of inhibitors, reduced potency on rat NaV1...
June 1, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28628911/a-carasil-patient-from-americas-with-novel-mutation-and-atypical-features-case-presentation-and-literature-review
#16
Muhammad Ibrahimi, Hiroaki Nozaki, Angelica Lee, Osamu Onodera, Raymond Reichwein, Matthew Wicklund, Mohammad El-Ghanem
OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes...
June 21, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28628285/-fibromyalgia-state-of-the-issue-in-2017
#17
REVIEW
A Neuprez, J-M Crielaard
Fibromyalgia (FM), whose diagnostic criteria were originally established in 1990 and updated in 2010, consists of a syndrome characterized by the presence of deep and diffuse musculoskeletal pain associated with other subjective manifestations (sleep, mood, cognitive problems). The prevalence is assessed in the general population at 2.2 %. Various risk factors were identified: age, gender, level of education and socio-economic status. Various etiological hypotheses have been explored, whether in neuroimaging or from the point of view of possible neuroendocrine and cytokine perturbations...
June 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28627447/pain-with-traumatic-brain-injury-and-psychological-disorders
#18
REVIEW
Samar Khoury, Rodrigo Benavides
Traumatic brain injury (TBI) is the cause for long-term disability in more than 3 million patients in the US alone, with chronic pain being the most frequently reported complain. To date, predisposing mechanisms for chronic pain in TBI patients are largely unknown. Psychological disorders, including post-traumatic stress disorder, depression and anxiety following TBI are commonly reported comorbidities to post-traumatic pain. Long term consequences can be debilitating and affect quality of life even when the injury is mild...
June 13, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28625302/pharmacogenetics-in-obstetric-anesthesia
#19
REVIEW
Ruth Landau, Richard Smiley
The 21st century has been billed as the era of "precision/personalized medicine." Genetic investigation of clinical syndromes may guide therapy as well as reveal previously unknown biological or pharmacological pathways that may result in novel drug therapies. Several clinical issues in obstetrics and obstetric anesthesiology have been targets for genetic investigations. These include evaluation of the genetic effects on preterm labor and the progression of labor, spinal anesthesia-induced hypotension and the response to medications used to treat hypotension, and the effect of gene variants on pain and analgesic responses...
March 2017: Best Practice & Research. Clinical Anaesthesiology
https://www.readbyqxmd.com/read/28623936/safety-and-potential-efficacy-of-gemfibrozil-as-a-supportive-treatment-for-children-with-late-infantile-neuronal-ceroid-lipofuscinosis-and-other-lipid-storage-disorders
#20
REVIEW
Kyeongsoon Kim, Hynda K Kleinman, Hahn-Jun Lee, Kalipada Pahan
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cognitive decline primarily in children. Multiple distinct genes involved in the metabolism of lipids have been identified to date with various mutations in this family of diseases. There is no cure for these diseases but some new therapeutic approaches have been tested that offer more hope than the standard palliative care...
June 17, 2017: Orphanet Journal of Rare Diseases
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