keyword
MENU ▼
Read by QxMD icon Read
search

Pain genetic

keyword
https://www.readbyqxmd.com/read/29780946/bilateral-acute-depigmentation-of-the-iris-in-two-siblings-simultaneously
#1
Rana Amin, Amena Nabih, Noha Khater
Purpose: To report the first simultaneous onset of bilateral acute depigmentation of the iris (BADI) in two siblings. Observations: Two sisters presented with bilateral ocular pain, redness and light sensitivity. Examination revealed bilateral circulating pigment in the anterior chamber with pigment dusting on backs of the corneas, patchy iris depigmentation and heavy pigment deposition in the angle. Both patients had recently suffered from upper respiratory tract infections...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#2
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
April 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29778275/quantifying-the-effects-of-16p11-2-copy-number-variants-on-brain-structure-a-multisite-genetic-first-study
#3
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi, Nicole R Zürcher, Philippe Conus, Wendy K Chung, Elliott H Sherr, John E Spiro, Ferath Kherif, Jacques S Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L Buckner, Bogdan Draganski, Sébastien Jacquemont
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV...
March 27, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29776379/development-of-a-rapid-field-applicable-molecular-diagnostic-for-knockdown-resistance-kdr-markers-in-an-gambiae
#4
Vera T Unwin, Shaun Ainsworth, Emily J Rippon, El Hadji Amadou Niang, Mark J I Paine, David Weetman, Emily R Adams
BACKGROUND: The spread of insecticide resistance (IR) is a major threat to vector control programmes for mosquito-borne diseases. Early detection of IR using diagnostic markers could help inform these programmes, especially in remote locations where gathering reliable bioassay data is challenging. Most current molecular tests for genetic IR markers are only suitable for use in well-equipped laboratory settings. There is an unmet need for field-applicable diagnostics. METHODS: A single-cartridge test was designed to detect key IR mutations in the major African vector of malaria, Anopheles gambiae...
May 18, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#5
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29770739/-express-novel-ntrk1-mutations-in-chinese-patients-with-congenital-insensitivity-to-pain-with-anhidrosis
#6
Xingzhu Geng, Yanshan Liu, Xiuzhi Ren, Yun Guan, Yanzhou Wang, Bin Mao, Xiuli Zhao, Xue Zhang
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis...
January 1, 2018: Molecular Pain
https://www.readbyqxmd.com/read/29770222/recurrent-vertebral-fractures-in-a-young-adult-a-closer-look-at-bone-health-in-type-1-diabetes-mellitus
#7
Eleanor P Thong, Sarah Catford, Julie Fletcher, Phillip Wong, Peter J Fuller, Helena Teede, Frances Milat
The association between type 1 diabetes mellitus (T1DM) and bone health has garnered interest over the years. Fracture risk is known to be increased in individuals with T1DM, although bone health assessment is not often performed in the clinical setting. We describe the case of a 21-year-old male with longstanding T1DM with multilevel vertebral fractures on imaging, after presenting with acute back pain without apparent trauma. Dual-energy X-ray absorptiometry (DXA) revealed significantly reduced bone mineral density at the lumbar spine and femoral neck...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29766046/deletion-of-tsc2-in-nociceptors-reduces-target-innervation-ion-channel-expression-and-sensitivity-to-heat
#8
Dan Carlin, Judith P Golden, Amit Mogha, Vijay K Samineni, Kelly R Monk, Robert W Gereau, Valeria Cavalli
The mechanistic target of rapamycin complex 1 (mTORC1) is known to regulate cellular growth pathways, and its genetic activation is sufficient to enhance regenerative axon growth following injury to the central or peripheral nervous systems. However, excess mTORC1 activation may promote innervation defects, and mTORC1 activity mediates injury-induced hypersensitivity, reducing enthusiasm for the pathway as a therapeutic target. While mTORC1 activity is required for full expression of some pain modalities, the effects of pathway activation on nociceptor phenotypes and sensory behaviors are currently unknown...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29765245/the-epidemiology-of-outpatient-pain-treatment-in-pediatrics
#9
Stacy Baldridge, Laura Wallace, Aditi Kadakia
Background: There is limited real-world, population-level data on the prevalence and treatment of pain in children. An understanding of pediatric pain conditions and its management can help inform provider education, treatment guidelines, and design of pediatric pain studies. Therefore, in this study, we aimed to describe the prevalence of conditions associated with acute and chronic pain in pediatric patients and to characterize pediatric pain treatment with nonsteroidal anti-inflammatory drugs, cyclooxygenase-2 (COX-2) inhibitors, opioids (immediate release or extended release), antidepressants, topical analgesics, anticonvulsants, and other therapies based on a large, real-world sample...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29762380/clinical-characteristics-of-disaccharidase-deficiencies-among-children-undergoing-upper-endoscopy
#10
Stanley A Cohen, Hannah Oloyede, Benjamin D Gold, Aminu Mohammed, Heather E Elser
OBJECTIVES: The epidemiology and clinical significance of disaccharidase deficiencies have not been thoroughly characterized. Recent work suggests at least genetic sucrase-isomaltase deficiency is more prevalent than previously believed. Because lactase deficiency (LD) is well described, the present study focuses on the clinical characteristics of children with disaccharidase deficiencies determined by esophagogastroduodenoscopy. METHODS: Endoscopic records were reviewed from patients undergoing esophagogastroduodenoscopies with biopsies assayed for disaccharidase activity performed by 13 pediatric gastroenterologists during 5 years (2010-2014)...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29761076/synchronous-bone-metastasis-from-multiple-myeloma-and-prostate-adenocarcinoma-as-initial-presentation-of-coexistent-malignancies
#11
Diego Andres Adrianzen Herrera, Shlomit Goldberg-Stein, Alexander Sankin, Judy Sarungbam, Janaki Sharma, Benjamin A Gartrell
The radiographic appearance of bone metastases is usually determined by tumor histology and can be osteolytic, osteoblastic, or mixed. We present a patient with coexistent bone metastasis from multiple myeloma and prostate adenocarcinoma who exhibited synchronous bone involvement of both histologies within the same bone lesion, a rare phenomenon that has not been previously reported and led to atypical radiographic findings. The radiograph of a 71-year-old man with thigh swelling and pain demonstrated a lytic femoral lesion...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29756585/animal-models-used-for-testing-hydrogels-in-cartilage-regeneration
#12
Chuntie Zhu, Qiong Wu, Xu Zhang, Fubo Chen, Xiyang Liu, Qixiang Yang, Lei Zhu
Focal cartilage or osteochondral lesions can be painful and detrimental. Besides pain and limited function of joints, cartilage defect is considered as one of the leading extrinsic risk factors for osteoarthritis (OA). Thus, clinicians and scientists have paid great attention to regenerative therapeutic methods for the early treatment of cartilaginous defects. Regenerative medicine, showing great hope for regenerating cartilage tissue, rely on the combination of biodegradable scaffolds and specific biological cues, such as growth factors, adhesive factors and genetic materials...
May 14, 2018: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29752905/paget-s-disease-of-bone-diagnosis-and-treatment-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2
#13
REVIEW
Igor Kravets
Paget's disease of bone is a common bone disorder characterized by disorganized bone remodeling. The most likely etiology is a slow paramyxoviral viral infection in genetically susceptible individuals, however the exact cause is unknown. Enhanced bone resorption due to and increased activity of osteoclasts recruits numerous osteoblasts to resorption sites with large quantities of new bone matrix produced as a result. The accelerated bone resorption and formation are not as closely coupled as in a healthy bone; a disorganized bone tissue is formed...
May 9, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29752406/the-prostaglandin-e-2-receptor-ep3-controls-cc-chemokine-ligand-mediated-neuropathic-pain-induced-by-mechanical-nerve-damage
#14
Elsa-Marie Treutlein, Katharina Kern, Andreas Weigert, Neda Tarighi, Claus-Dieter Schuh, Rolf M Nüsing, Yannick Schreiber, Nerea Ferreirós, Bernhard Brüne, Gerd Geisslinger, Sandra Pierre, Klaus Scholich
Prostaglandin (PG) E2 is an important lipid mediator that is involved in several pathophysiological processes contributing to fever, inflammation and pain. Previous studies have shown that early and continuous application of non-steroidal anti-inflammatory drugs significantly reduces pain behavior in the spared nerve injury (SNI) model for trauma-induced neuropathic pain. However, the role of PGE2 and its receptors in the development and maintenance of neuropathic pain is incompletely understood, but may help inform strategies for pain management...
May 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29752280/-drosophila-insulin-receptor-regulates-the-persistence-of-injury-induced-nociceptive-sensitization
#15
Seol Hee Im, Atit A Patel, Daniel N Cox, Michael J Galko
Diabetes-associated nociceptive hypersensitivity affects diabetic patients with hard-to-treat chronic pain. Because multiple tissues are affected by systemic alterations in insulin signaling, the functional locus of insulin signaling in diabetes-associated hypersensitivity remains obscure. Here, we used Drosophila nociception/nociceptive sensitization assays to investigate the role of Insulin receptor (Insulin-like receptor, InR) in nociceptive hypersensitivity. InR mutant larvae exhibited mostly normal baseline thermal nociception (absence of injury) and normal acute thermal hypersensitivity following UV-induced injury...
May 10, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#16
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29751000/2-arachidonoylglycerol-a-signaling-lipid-with-manifold-actions-in-the-brain
#17
REVIEW
Marc P Baggelaar, Mauro Maccarrone, Mario van der Stelt
2-Arachidonoylglycerol (2-AG) is a signaling lipid in the central nervous system that is a key regulator of neurotransmitter release. 2-AG is an endocannabinoid that activates the cannabinoid CB1 receptor. It is involved in a wide array of (patho)physiological functions, such as emotion, cognition, energy balance, pain sensation and neuroinflammation. In this review, we describe the biosynthetic and metabolic pathways of 2-AG and how chemical and genetic perturbation of these pathways has led to insight in the biological role of this signaling lipid...
May 8, 2018: Progress in Lipid Research
https://www.readbyqxmd.com/read/29747764/-genetics-diagnosis-and-characteristics-of-trisomy-21
#18
Aimé Ravel
Trisomy 21 remains relevant today. As patients' life expectancy increases, medical monitoring shows the importance of screening for associated complications such as epilepsy and sleep apnoea. For caregivers, it constitutes a care model for intellectually disabled people notably with regard to anxiety, poor expression of pain and family suffering. Scientific advances raise hope of progress in therapeutic practices.
May 2018: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/29746349/nalcn-channels-enhance-the-intrinsic-excitability-of-spinal-projection-neurons
#19
Neil C Ford, Dejian Ren, Mark L Baccei
Spinal projection neurons convey nociceptive signals to multiple brain regions including the parabrachial (PB) nucleus, which contributes to the emotional valence of pain perception. Despite the clear importance of projection neurons to pain processing, our understanding of the factors that shape their intrinsic membrane excitability remains limited. Here we investigate a potential role for the Na leak channel NALCN in regulating the activity of spino-PB neurons in the developing rodent. Pharmacological reduction of NALCN current (INALCN), or the genetic deletion of NALCN channels, significantly reduced the intrinsic excitability of lamina I spino-PB neurons...
April 26, 2018: Pain
https://www.readbyqxmd.com/read/29745889/potentially-traumatic-events-ptsd-and-post-traumatic-stress-spectrum-in-patients-with-fibromyalgia
#20
Ciro Conversano, Claudia Carmassi, Carlo A Bertelloni, Laura Marchi, Tommaso Micheloni, Manuel G Carbone, Giovanni Pagni, Claudia Tagliarini, Gabriele Massimetti, Laura M Bazzichi, Liliana Dell'Osso
OBJECTIVES: Fibromyalgia (FM) is defined as a severe, chronic, non-articular rheumatic condition characterised by widespread musculoskeletal pain, hyperalgesia and generalised tender points, in the absence of inflammatory or structural musculoskeletal abnormalities. Pain is the predominant symptom, allodynia and hyperalgesia are common signs. Extreme fatigue, impaired cognition and non-restorative sleeping difficulties coexist in addition to other somatic symptoms. Several studies suggest there is a meaningful relationship between FM and the psychological symptoms of depression and post-traumatic stress disorder (PTSD)...
April 24, 2018: Clinical and Experimental Rheumatology
keyword
keyword
23095
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"