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https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#1
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28435906/low-back-pain-in-older-adults-risk-factors-management-options-and-future-directions
#2
REVIEW
Arnold Yl Wong, Jaro Karppinen, Dino Samartzis
Low back pain (LBP) is one of the major disabling health conditions among older adults aged 60 years or older. While most causes of LBP among older adults are non-specific and self-limiting, seniors are prone to develop certain LBP pathologies and/or chronic LBP given their age-related physical and psychosocial changes. Unfortunately, no review has previously summarized/discussed various factors that may affect the effective LBP management among older adults. Accordingly, the objectives of the current narrative review were to comprehensively summarize common causes and risk factors (modifiable and non-modifiable) of developing severe/chronic LBP in older adults, to highlight specific issues in assessing and treating seniors with LBP, and to discuss future research directions...
2017: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/28434951/role-of-crf1-receptor-in-post-incisional-plasma-extravasation-and-nociceptive-responses-in-mice
#3
Asunción Romero, Juan-Antonio García-Carmona, María-Luisa Laorden, Margarita M Puig
The corticotropin-releasing factor (CRF) is involved in a number of physiological functions including pain perception. The purpose of this study was to evaluate the role of CRF1 receptor in the long-lasting post-surgical changes in somatic nociceptive thresholds and in local inflammatory responses, using genetically engineered mice lacking functional CRF1 receptor. Animals underwent a plantar incision under anaesthesia with remifentanil (80μg/kg s.c.) and sevoflurane. Mechanical thresholds (von Frey) and plasma extravasation (Evan's blue) were evaluated at different time points...
April 20, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28433476/patient-with-multiple-acyl-coa-dehydrogenation-deficiency-disease-and-flad1-mutations-benefits-from-riboflavin-therapy
#4
M Auranen, A Paetau, P Piirilä, A Pohju, T Salmi, A Lamminen, M Löfberg, S Mosegaard, R K Olsen, T Tyni
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency...
March 9, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28428628/inflammatory-and-neuropathic-nociception-is-preserved-in-gpr55-knockout-mice
#5
Lawrence M Carey, Tannia Gutierrez, Liting Deng, Wan-Hung Lee, Ken Mackie, Andrea G Hohmann
The G-protein coupled receptor GPR55 has been postulated to serve as a novel cannabinoid receptor. A previous report indicated that GPR55 knockout mice fail to develop mechanical hyperalgesia, suggesting a pro-nociceptive role for GPR55 in the control of nociceptive responding. However, GPR55 knockout mice remain incompletely characterized in models of pathological pain. Here we provide a comprehensive assessment of responses of GPR55 knockout and wild-type mice to mechanical and thermal (heat, cold) stimulation in multiple, mechanistically distinct models of inflammatory and neuropathic pain...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#6
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28423456/progesterone-resistance-in-endometriosis-origins-consequences-and-interventions
#7
Bansari G Patel, Martin Rudnicki, Jie Yu, Yimin Shu, Robert N Taylor
Endometriosis is a common cause of pelvic pain and affects up to 10% of women of reproductive age. Aberrant progesterone signaling in the endometrium plays a significant role in impaired decidualization and establishment of ectopic endometrial implants. Eutopic endometrial cells from women with endometriosis fail to downregulate genes needed for decidualization, such as those involved in cell cycle regulation, leading to unbridled proliferation. Several causes of progesterone resistance in the endometrium have been postulated, including congenital "preconditioning", whereby the in utero environment renders infants susceptible to neonatal uterine bleeding and endometriosis...
April 19, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#8
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#9
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28415063/neuron-restrictive-silencer-factor-mediated-downregulation-of-%C3%AE-opioid-receptor-contributes-to-the-reduced-morphine-analgesia-in-bone-cancer-pain
#10
Chao Zhu, Jun Tang, Tan Ding, Lei Chen, Wei Wang, Xiao-Peng Mei, Xiao-Tao He, Wen Wang, Li-Dong Zhang, Yu-Lin Dong, Zhuo-Jing Luo
Bone cancer pain has been reported to have unique mechanisms and is resistant to morphine treatment. Recent studies have indicated that neuron-restrictive silencer factor (NRSF) plays a crucial role in modulating the expression of the μ-opioid receptor (MOR) gene. The present study elucidates the regulatory mechanisms of MOR and its ability to affect bone cancer pain. Using a sarcoma-inoculated murine model, pain behaviors that represent continuous or breakthrough pain were evaluated. Expression of NRSF in the dorsal root ganglion (DRG) and spinal dorsal horn was quantified at the transcriptional and translational levels, respectively...
May 2017: Pain
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#11
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413930/relationship-of-genetic-variants-with-procedural-pain-anxiety-and-distress-in-children
#12
Anne L Ersig, Debra L Schutte, Jennifer Standley, Elizabeth Leslie, Bridget Zimmerman, Charmaine Kleiber, Kirsten Hanrahan, Jeffrey C Murray, Ann Marie McCarthy
OBJECTIVE: This study used a candidate gene approach to examine genomic variation associated with pain, anxiety, and distress in children undergoing a medical procedure. STUDY DESIGN: Children aged 4-10 years having an IV catheter insertion were recruited from three Midwestern children's hospitals. Self-report measures of pain, anxiety, and distress were obtained as well as an observed measure of distress. Samples were collected from children and biological parents for analysis of genomic variation...
May 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28409830/magnesium-for-treating-sickle-cell-disease
#13
REVIEW
Nan Nitra Than, Htoo Htoo Kyaw Soe, Senthil K Palaniappan, Adinegara Bl Abas, Lucia De Franceschi
BACKGROUND: Sickle cell disease is an autosomal recessive inherited haemoglobinopathy which causes painful vaso-occlusive crises due to sickle red blood cell dehydration. Vaso-occlusive crises are common painful events responsible for a variety of clinical complications; overall mortality is increased and life expectancy decreased compared to the general population. Experimental studies suggest that intravenous magnesium has proven to be well-tolerated in individuals hospitalised for the immediate relief of acute (sudden onset) painful crisis and has the potential to decrease the length of hospital stay...
April 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28409480/genetic-testing-for-opioid-pain-management-a-primer
#14
Deepti Agarwal, Mercy A Udoji, Andrea Trescot
Patients see their primary care physicians (PCPs) for a variety of medical conditions, chronic pain being one of the most common. An increased use of prescription medications (especially opioids) has led to an increase in adverse drug reactions and has heightened our awareness of the variability in response to medications. Opioids and other pain adjuvants are widely used, and drug-drug interactions involving these analgesics can be problematic and potentially lethal. Pharmacogenetics has improved our understanding of drug efficacy and response, opened doors to individual tailoring of medical management, and created a series of ethical and economic considerations...
April 13, 2017: Pain and Therapy
https://www.readbyqxmd.com/read/28407984/review-allergic-contact-stomatitis
#15
REVIEW
Liviu Feller, Neil Hamilton Wood, Razia Abdool Gafaar Khammissa, Johan Lemmer
Allergic contact stomatitis (ACS) is an oral mucosal immunoinflammatory disorder variably characterized clinically by erythematous plaques, vesiculation, ulceration, and/or hyperkeratosis and by pain, burning sensation, or itchiness. ACS is brought about by a T cell-mediated, delayed hypersensitivity immune reaction generated by a second or subsequent contact exposure of an allergen with the oral mucosa, in a genetically susceptible, sensitized subject. Lichenoid contact reaction is a variant of ACS brought about by direct contact with the oral mucosa of certain metals in dental restorations...
May 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28406989/escdl-1-a-new-cell-line-derived-from-chicken-embryonic-stem-cells-supports-efficient-replication-of-mardiviruses
#16
Jean-François Vautherot, Christian Jean, Laetitia Fragnet-Trapp, Sylvie Rémy, Danièle Chabanne-Vautherot, Guillaume Montillet, Aurélie Fuet, Caroline Denesvre, Bertrand Pain
Marek's disease virus is the etiological agent of a major lymphoproliferative disorder in poultry and the prototype of the Mardivirus genus. Primary avian somatic cells are currently used for virus replication and vaccine production, but they are largely refractory to any genetic modification compatible with the preservation of intact viral susceptibility. We explored the concept of induction of viral replication permissiveness in an established pluripotent chicken embryonic stem cell-line (cES) in order to derive a new fully susceptible cell-line...
2017: PloS One
https://www.readbyqxmd.com/read/28398555/biophysical-and-functional-characterization-of-hippocalcin-mutants-responsible-for-human-dystonia
#17
Nordine Helassa, Svetlana V Antonyuk, Lu-Yun Lian, Lee P Haynes, Robert D Burgoyne
Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). However, the effect of these mutations on the physiological role of hippocalcin has not yet been elucidated. Using a multidisciplinary approach, we demonstrated that hippocalcin oligomerises in a calcium-dependent manner and binds to voltage-gated calcium channels...
April 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28398289/a-high-throughput-molecular-data-resource-for-cutaneous-neurofibromas
#18
Sara J C Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker
Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients...
April 11, 2017: Scientific Data
https://www.readbyqxmd.com/read/28397286/primary-cutaneous-nocardiosis-caused-by-nocardia-brasiliensis-following-a-wasp-sting
#19
L Chu, X Xu, Y Ran
We report a case of an 87-year-old woman who presented with painful erythema of her right forearm 10 days after she had been stung by a wasp on her right hand. The lesion had rapidly deteriorated during the week before presentation, and treatment with antibiotics and glucocorticoids did not improve the condition. After careful evaluation, we performed cultures from the lesion aspiration, and morphological and genetic analysis of bacteria cultures confirmed a bacterial infection with Nocardia brasiliensis. The patient recovered after 3 weeks...
April 10, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28396446/identification-of-a-cono-rfamide-from-the-venom-of-conus-textile-that-targets-asic3-and-enhances-muscle-pain
#20
Catharina Reimers, Cheng-Han Lee, Hubert Kalbacher, Yuemin Tian, Chih-Hsien Hung, Axel Schmidt, Lea Prokop, Silke Kauferstein, Dietrich Mebs, Chih-Cheng Chen, Stefan Gründer
Acid-sensing ion channels (ASICs) are proton-gated Na(+) channels that are expressed throughout the nervous system. ASICs have been implicated in several neuronal disorders, like ischemic stroke, neuronal inflammation, and pathological pain. Several toxins from venomous animals have been identified that target ASICs with high specificity and potency. These toxins are extremely useful in providing protein pharmacophores and to characterize function and structure of ASICs. Marine cone snails contain a high diversity of toxins in their venom such as conotoxins, which are short polypeptides stabilized by disulfide bonds, and conopeptides, which have no or only one disulfide bond...
April 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
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