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https://www.readbyqxmd.com/read/27905115/treatment-for-hereditary-angioedema-with-normal-c1-inh-and-specific-mutations-in-the-f12-gene-hae-fxii
#1
K Bork, K Wulff, G Witzke, J Hardt
Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors...
November 6, 2016: Allergy
https://www.readbyqxmd.com/read/27900088/favorable-control-of-advanced-colon-adenocarcinoma-with-severe-bone-marrow-metastasis-a-case-report
#2
Fumiyasu Hanamura, Yoshihiro Shibata, Tsuyoshi Shirakawa, Miyuki Kuwayama, Hisanobu Oda, Hiroshi Ariyama, Kenichi Taguchi, Taito Esaki, Eishi Baba
Colorectal cancer (CRC) has a propensity to metastasize to the liver, lungs and regional abdominal lymph nodes, but rarely to the bone marrow. A 60-year-old man presented to the National Hospital Organization Kyushu Cancer Center with a 4-week history of persistent lower back pain, anorexia and difficulty defecating. Complete blood count revealed severe thrombocytopenia and erythroblastosis, suggesting a hematological malignancy. However, the bone marrow examination demonstrated involvement by a moderately to poorly differentiated adenocarcinoma, but no hematopoietic abnormalities...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27893682/peritoneal-dialysis-related-peritonitis-due-to-halomonas-hamiltonii-a-first-case-report
#3
Se Hwan Yeo, Jae Hoon Kwak, Yeo Un Kim, Jin Suk Lee, Hyo Jin Kim, Kyoung Hwa Park, Jung Sook Lee, Gyoung Yim Ha, Jeong Ho Lee, Jun Yeop Lee, Kyung Don Yoo
INTRODUCTION: Halomonas hamiltonii is a Gram-negative, halophilic, motile, and nonspore-forming rod bacterium. Although most Halomonas sp. are commonly found in saline environments, it has rarely been implicated as a cause of human infection. Herein, the authors present a case report of continuous ambulatory peritoneal dialysis (CAPD)-related peritonitis attributed to H hamiltonii. CASE PRESENTATION: An 82-year-old male patient who had been receiving CAPD therapy presented to an emergency department with complaints of abdominal pain and cloudy dialysate that had persisted for 2 days...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27883323/association-of-single-nucleotide-polymorhism-c3435t-in-the-abcb1-gene-with-opioid-sensitivity-in-treatment-of-postoperative-pain
#4
Vanja Dzambazovska-Trajkovska, Jordan Nojkov, Andrijan Kartalov, Biljana Kuzmanovska, Tatjana Spiroska, Redzep Seljmani, Gjorgji Trajkovski, Nadica Matevska-Geshkovska, Aleksandar Dimovski
BACKGROUND: The minimal effective analgesic concentration of opioids required for satisfactory analgesia may differ significantly among the patients. Genetic factors may contribute to the variable response to opioids by affecting their pharmacokinetics or pharmacodynamics. METHODS: Ninety nine patients undergoing abdominal surgery with colorectal anastomosis because of colorectal carcinoma were enrolled in the present study. C34535T was genotyped in all subjects and the patients were divided into three groups according to their genotype: CC-wild type homozygous, CT-mutant heterozygous and TT-mutant homozygous...
November 1, 2016: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/27881061/traditional-and-alternative-therapies-for-refractory-angina
#5
Duygu Kocyigit, Kadri Murat Gurses, Muhammed Ulvi Yalcin, Lale Tokgozoglu
Refractory angina (RFA) is an unfavourable condition that is characterized with persistent angina due to reversible myocardial ischaemia in patients with coronary artery disease that remains uncontrollable despite an optimal combination of pharmacological agents and revascularization. Despite significant advances in revascularization techniques and agents used in pharmacological therapy, there is a significant population suffering from RFA and the global prevalence is even increasing. Anti- anginal treatment and secondary risk-factor modification are the traditional approaches for this group of patients...
November 23, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27853661/cell-therapy-with-human-dermal-fibroblasts-enhances-intervertebral-disk-repair-and-decreases-inflammation-in-the-rabbit-model
#6
Ana Chee, Peng Shi, Thomas Cha, Ting-Hsien Kao, Shu-Hua Yang, Jun Zhu, Ding Chen, Yejia Zhang, Howard S An
Study Design Pilot study using the rabbit model. Objective Low back pain is often associated with disk degeneration. Cell therapy for degenerating disks may promote tissue regeneration and repair. Human dermal fibroblasts, obtained from the patient's skin tissue or donated tissue, may be a promising cell therapy option for degenerating disks. The objective of these studies is to determine the effects of intradiscal transplantation of neonatal human dermal fibroblasts (nHDFs) on intervertebral disk (IVD) degeneration by measuring disk height, magnetic resonance imaging (MRI) signal intensity, gene expression, and collagen immunostaining...
December 2016: Global Spine Journal
https://www.readbyqxmd.com/read/27813341/pharmacological-and-biological-therapeutic-strategies-for-osteogenesis-imperfecta
#7
Ronit Marom, Yi-Chien Lee, Ingo Grafe, Brendan Lee
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility, low bone mass, and bone deformities. The majority of cases are caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes that encode type I collagen, the major component of the bone matrix. The remaining cases are caused by autosomal recessively or dominantly inherited mutations in genes that are involved in the post-translational modification of type I collagen, act as type I collagen chaperones, or are members of the signaling pathways that regulate bone homeostasis...
November 3, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27807282/genetic-interrogation-of-circulating-multiple-myeloma-cells-at-single-cell-resolution
#8
Jens G Lohr, Sora Kim, Joshua Gould, Birgit Knoechel, Yotam Drier, Matthew J Cotton, Daniel Gray, Nicole Birrer, Bang Wong, Gavin Ha, Cheng-Zhong Zhang, Guangwu Guo, Matthew Meyerson, Andrew J Yee, Jesse S Boehm, Noopur Raje, Todd R Golub
Multiple myeloma (MM) remains an incurable disease, with a treatment-refractory state eventually developing in all patients. Constant clonal evolution and genetic heterogeneity of MM are a likely explanation for the emergence of drug-resistant disease. Monitoring of MM genomic evolution on therapy by serial bone marrow biopsy is unfortunately impractical because it involves an invasive and painful procedure. We describe how noninvasive and highly sensitive isolation and characterization of circulating tumor cells (CTCs) from peripheral blood at single-cell resolution recapitulate MM in the bone marrow...
November 2, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27798858/molecular-pathology-and-novel-clinical-therapy-for-uterine-leiomyosarcoma
#9
REVIEW
Takuma Hayashi, Miki Kawano, Tomoyuki Ichimura, Koichi Ida, Hirofumi Ando, Dorit Zharhary, Yae Kanai, Hiroyuki Aburatani, Susumu Tonegawa, Tanri Shiozawa, Nobuo Yaegashi, Ikuo Konishi
Patients with uterine leiomyosarcoma (LMS) typically present with vaginal bleeding, pain, and a pelvic mass, with atypical presentations of hypercalcemia and eosinophilia also being reported. Radiographic evaluation with combined positron-emission tomography/computed tomography may assist in diagnosis and surveillance in women with uterine LMS; these are commonly used with stage and tumour grade as prognostic indicators and a recently developed risk-assessment index to predict disease-specific survival. Recent studies have shown that the addition of adjuvant therapy after surgical management does not seem to improve survival, and ovarian preservation does not appear to negatively impact outcome...
October 2016: Anticancer Research
https://www.readbyqxmd.com/read/27795423/dysregulated-glycoprotein-b-mediated-cell-cell-fusion-disrupts-varicella-zoster-virus-and-host-gene-transcription-during-infection
#10
Stefan L Oliver, Edward Yang, Ann M Arvin
: The highly conserved herpesvirus glycoprotein complex, gB/gH-gL, mediates membrane fusion during virion entry and cell-cell fusion. Varicella-zoster virus (VZV) characteristically forms multi-nucleated cells, or syncytia, during the infection of human tissues but little is known about this process. The cytoplasmic domain of VZV gB (gBcyt) has been implicated in cell-cell fusion regulation because a gB[Y881F] substitution causes hyperfusion. The gBcyt regulation is necessary for VZV pathogenesis as the hyperfusogenic mutant gB[Y881F] is severely attenuated in human skin xenografts...
October 26, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27786042/no-effect-of-the-thr92ala-polymorphism-of-deiodinase-2-on-thyroid-hormone-parameters-health-related-quality-of-life-and-cognitive-functioning-in-a-large-population-based-cohort-study
#11
Hanneke J C M Wouters, Hannah Constance Mathilde van Loon, Melanie M Van der Klauw, Martin F Elderson, Sandra N Slagter, Anneke C Muller Kobold, Ido P Kema, Thera P Links, Jana V van Vliet-Ostaptchouk, Bruce H R Wolffenbuttel
INTRODUCTION: The presence of Thr92Ala polymorphism of deiodinase-2 (D2) may have several effects. It may influence its enzymatic function, is associated with increased expression of genes involved in oxidative stress in brain tissue, and may predict favorable response to combination levothyroxine (LT4) plus triiodothyronine (T3) therapy. We hypothesized that homozygous carriers of the D2-92Ala allele have different thyroid hormone parameters, and reduced health-related quality of life (HR-QoL) and cognitive functioning...
October 27, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27752357/tofacitinib-versus-methotrexate-in-rheumatoid-arthritis-patient-reported-outcomes-from-the-randomised-phase-iii-oral-start-trial
#12
Vibeke Strand, Eun Bong Lee, Roy Fleischmann, Rieke E Alten, Tamas Koncz, Samuel H Zwillich, David Gruben, Bethanie Wilkinson, Sriram Krishnaswami, Gene Wallenstein
OBJECTIVES: To compare patient-reported outcomes (PROs) in methotrexate (MTX)-naive patients (defined as no prior treatment or ≤3 doses) receiving tofacitinib versus MTX. METHODS: In the 24-month, phase III, randomised, controlled, ORAL Start trial (NCT01039688), patients were randomised 2:2:1 to receive tofacitinib 5 mg two times per day (n=373), tofacitinib 10 mg two times per day (n=397) or MTX (n=186). PROs assessed included Patient Global Assessment of disease (PtGA), pain, Health Assessment Questionnaire-Disability Index (HAQ-DI), Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F) and health-related quality of life (Short Form-36 [SF-36])...
2016: RMD Open
https://www.readbyqxmd.com/read/27748719/chronic-pancreatitis-in-the-21st-century-research-challenges-and-opportunities-summary-of-a-national-institute-of-diabetes-and-digestive-and-kidney-diseases-workshop
#13
Aliye Uc, Dana K Andersen, Melena D Bellin, Jason I Bruce, Asbjørn M Drewes, John F Engelhardt, Christopher E Forsmark, Markus M Lerch, Mark E Lowe, Brent A Neuschwander-Tetri, Stephen J OʼKeefe, Tonya M Palermo, Pankaj Pasricha, Ashok K Saluja, Vikesh K Singh, Eva M Szigethy, David C Whitcomb, Dhiraj Yadav, Darwin L Conwell
A workshop was sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases to focus on research gaps and opportunities in chronic pancreatitis (CP) and its sequelae. This conference marked the 20th year anniversary of the discovery of the cationic trypsinogen (PRSS1) gene mutation for hereditary pancreatitis. The event was held on July 27, 2016, and structured into 4 sessions: (1) pathophysiology, (2) exocrine complications, (3) endocrine complications, and (4) pain. The current state of knowledge was reviewed; many knowledge gaps and research needs were identified that require further investigation...
November 2016: Pancreas
https://www.readbyqxmd.com/read/27741504/up-regulation-of-ribosome-biogenesis-by-mir196a2-genetic-variation-promotes-endometriosis-development-and-progression
#14
Cherry Yin-Yi Chang, Ming-Tsung Lai, Yi Chen, Ching-Wen Yang, Hui-Wen Chang, Cheng-Chan Lu, Chih-Mei Chen, Carmen Chan, Ching Chung, Chun-Cheng Tseng, Tritium Hwang, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai
Aberrant miRNA expression has been reported in endometriosis and miRNA gene polymorphisms have been linked to cancer. Because certain ovarian cancers arise from endometriosis, we genotyped seven cancer-related miRNA single nucleotide polymorphisms (MiRSNPs) to investigate their possible roles in endometriosis. Genetic variants in MIR196A2 (rs11614913) and MIR100 (rs1834306) were found to be associated with endometriosis development and related clinical phenotypes, such as infertility and pain. Downstream analysis of the MIR196A2 risk allele revealed upregulation of rRNA editing and protein synthesis genes, suggesting hyper-activation of ribosome biogenesis as a driving force for endometriosis progression...
September 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27735906/-the-neurological-manifestations-of-fabry-disease-a-review
#15
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27730494/intraepidermal-nerve-fiber-density-diagnostic-and-therapeutic-relevance-in-the-management-of-chronic-pruritus-a-review
#16
Manuel P Pereira, Sebastian Mühl, Esther M Pogatzki-Zahn, Konstantin Agelopoulos, Sonja Ständer
In recent years, measurement of the intraepidermal nerve fiber (IENF) density has gained relevance in the diagnostics of chronic pruritus. This method allows the objectification and quantification of a small-fiber neuropathy, which may manifest clinically with pruritus, pain or dysesthetic sensory symptoms, such as burning, stinging and tingling sensations or numbness. Upon suspicion of a small-fiber neuropathy as a cause for chronic pruritus, targeted diagnostic procedures are essential for the early detection of the neuroanatomical changes...
October 11, 2016: Dermatology and Therapy
https://www.readbyqxmd.com/read/27726041/photobiomodulation-therapy-in-the-modulation-of-inflammatory-mediators-and-bradykinin-receptors-in-an-experimental-model-of-acute-osteoarthritis
#17
Vanessa Lima Cavalcante de Oliveira, José Antonio Silva, Andrey Jorge Serra, Rodney Capp Pallotta, Evela Aparecida Pereira da Silva, Anna Cristina de Farias Marques, Regiane Dos Santos Feliciano, Rodrigo Labat Marcos, Ernesto Cesar Pinto Leal-Junior, Paulo de Tarso Camillo de Carvalho
The objective of this study was to evaluate the effects of photobiomodulation therapy (PBMT) on inflammatory indicators, i.e., inflammatory mediators (TNF-α and CINC-1), and pain characterized by hyperalgesia and B1 and B2 receptor activation at 6, 24, and 48 h after papain-induced osteoarthritis (OA) in rats. Fifty-four rats were subjected to hyperalgesia evaluations and then divided randomly into three groups-a control group and two groups OA and OA PBMT group by using laser parameters at wavelength (808 nm), output power (50 mW), energy per point (4 Joules), power density (1...
October 10, 2016: Lasers in Medical Science
https://www.readbyqxmd.com/read/27699270/asfotase-alfa-therapy-for-children-with-hypophosphatasia
#18
Michael P Whyte, Katherine L Madson, Dawn Phillips, Amy L Reeves, William H McAlister, Amy Yakimoski, Karen E Mack, Kim Hamilton, Kori Kagan, Kenji P Fujita, David D Thompson, Scott Moseley, Tatjana Odrljin, Cheryl Rockman-Greenberg
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27692181/a-mechanistic-approach-to-the-development-of-gene-therapy-for-chronic-pain
#19
C Kibaly, H H Loh, P-Y Law
Treatment of chronic pain has created a "silent epidemic," a term that describes the serious public health problem of the abuse of opioid painkillers and other prescription drugs. Conventional pharmacotherapy is limited by the loss of effectiveness in the long-term and by potentially lethal side effects. Efforts need to be focused on the development of nonpharmacological approaches. As significant progress is made in the viral vector technology, gene therapy involving recombinant viruses as vehicles may become a viable alternative for treatment of severe pain...
2016: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/27688312/pulsed-radiofrequency-attenuates-complete-freund-s-adjuvant-induced-epigenetic-suppression-of-potassium-chloride-cotransporter-2-expression
#20
Chia-Kai Liu, Wen-Tzu Liao, Yu-Chi Chu, Chien-Hui Yang, Kuan-Hung Chen, Chih-Hsien Wu, Chung-Ren Lin
BACKGROUND:  Pulsed radiofrequency (PRF) treatment offers pain relief for patients suffering from chronic pain who do not respond well to conventional treatments. We tested whether PRF treatment attenuated complete Freund's adjuvant (CFA)-induced inflammatory pain. Epigenetic modification of potassium-chloride cotransporter 2 (KCC2) gene expression was examined to elucidate the potential contributing mechanism. METHODS:  Male Sprague-Dawley rats were injected with CFA into the plantar surface of the left hind paw to induce inflammation...
September 28, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
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