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Pain genetic

Balaji K Tamarappoo, Allan L Klein
Post-pericardiotomy syndrome (PPS) occurs in a subgroup of patients who have undergone cardiothoracic surgery and is characterized by fever, pleuritic pain, pleural effusion, and pericardial effusion. It is associated with significant morbidity, and the leading complications include tamponade and constrictive pericarditis. Epidemiologic studies have found that PPS often occurs among younger patients; however, there is a lack of comprehensive risk stratification. It is therefore important to be able to identify patients who are at high risk for developing this disease...
November 2016: Current Cardiology Reports
Asad Mohammadzadeh, Adel Spotin, Mahmoud Mahami-Oskouei, Ali Haghighi, Nozhat Zebardast, Kobra Kohansal
In the microevolutionary scales of Entamoeba isolates, the gene migration shows how Entamoeba spp. has epidemiologically drifted among border countries. Five hundred fecal samples were taken from patients suffering gastrointestinal disorders, abdominal pain, and diarrhea at Saggez, northwest Iran located within the border Iraq country. Following parasitological techniques, DNA samples were extracted and amplified by polymerase chain reaction (PCR) of 18S rRNA region to identify Entamoeba infections. To distinguish the Entamoeba spp...
October 20, 2016: Parasitology Research
Kerry Dwan, Carrie A Phillipi, Robert D Steiner, Donald Basel
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix which typically results in multiple fractures with little or no trauma. Bisphosphonates are used in an attempt to increase bone mineral density and reduce these fractures in people with osteogenesis imperfecta. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effectiveness and safety of bisphosphonates in increasing bone mineral density, reducing fractures and improving clinical function in people with osteogenesis imperfecta...
October 19, 2016: Cochrane Database of Systematic Reviews
Panayot T Solakov
TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190)...
September 1, 2016: Folia Medica
Bruno Borghese, Krina T Zondervan, Mauricio S Abrao, Charles Chapron, Daniel Vaiman
Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is characterized by the implantation of functional endometrial tissue at ectopic positions generally within the peritoneum. This complex disease has an important genetic component with a heritability estimated at around 50%. This review aims at providing recent insights into the genetic bases of endometriosis, and present a detailed overview of evidence of epigenetic alterations specific to this disease...
October 18, 2016: Clinical Genetics
Amabile Borges Dario, Manuela Loureiro Ferreira, Kathryn Refshauge, Alejandro Luque-Suarez, Juan Ramon Ordoñana, Paulo Henrique Ferreira
BACKGROUND: Obesity is commonly investigated as a potential risk factor for LBP, however the current evidence remains unclear. Limitations in previous studies may explain the inconsistent results in the field such as use of a cross-sectional design, limitations in the measures used to assess obesity (e.g. body mass index - BMI) and poor adjustment for confounders (e.g. genetics and physical activity). PURPOSE AND DESIGN: To better understand the effects of obesity on LBP, our aim was to investigate in a prospective cohort whether obesity-related measures increase the risk of chronic LBP outcomes using a longitudinal design...
October 14, 2016: Spine Journal: Official Journal of the North American Spine Society
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Gothic P Thomas, Dana Willner, Philip C Robinson, Adrian Cortes, Ran Duan, Martin Rudwaleit, Nurullah Akkoc, Jurgen Braun, Chung-Tei Chou, Walter P Maksymowych, Salih Ozgocmen, Euthalia Roussou, Joachim Sieper, Rafael Valle-Oñate, Desiree van der Heijde, James Wei, Paul Leo, Matthew A Brown
OBJECTIVES: Spondyloarthritis (SpA) is often diagnosed late in the course of the disease and improved methods for early diagnosis are required. We have tested the ability of genetic profiling to diagnose axial SpA (axSpA) as a whole group, or ankylosing spondylitis (AS) alone, in a cohort of chronic back pain patients. METHODS: 282 patients were recruited from centres in the United Kingdom, Germany, Taiwan, Canada, Columbia and Turkey as part of the ASAS classification criteria for axSpA study (ASAS cohort)...
October 7, 2016: Clinical and Experimental Rheumatology
Donald Nuss, Robert J Obermeyer, Robert E Kelly
Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen...
September 2016: Annals of Cardiothoracic Surgery
Guislaine Refregier, Edgar Abadia, Tomoshige Matsumoto, Hiromi Ano, Tetsuya Takashima, Izuo Tsuyuguchi, Elif Aktas, Füsun Cömert, Michel Kireopori Gomgnimbou, Stefan Panaiotov, Jody Phelan, Francesc Coll, Ruth Mcnerney, Arnab Pain, Taane G Clark, Christophe Sola
Two geographically distant M. tuberculosis sublineages, Tur from Turkey and T3-Osaka from Japan, exhibit partially identical genotypic signatures (identical 12-loci MIRU-VNTR profiles, distinct spoligotyping patterns). We investigated T3-Osaka and Tur sublineages characteristics and potential genetic relatedness, first using MIRU-VNTR locus analysis on 21 and 25 samples of each sublineage respectively, and second comparing Whole Genome Sequences of 8 new samples to public data from 45 samples uncovering human tuberculosis diversity...
October 13, 2016: Infection, Genetics and Evolution
Oleksandr Holovachov, Sven Boström, Irma Tandingan De Ley, Rory J Mc Donnell, Salomon Alvarado, Timothy D Paine, Paul De Ley
A new species of Alloionema Schneider, 1859, A. similis n. sp., and the known species A. appendiculatum Schneider, 1859 were isolated from cadavers of invasive slugs in California. Both species are described based on morphology, morphometrics and molecular data. Alloionema similis n. sp. is morphologically very similar to A. appendiculatum but can be distinguished by a more posterior position of the excretory pore in the Kleinform females and longer tail in the Kleinform males. Substantial differences between the two species are, however, found in both 18S and 28S rDNA sequences...
November 2016: Systematic Parasitology
Zhenpeng Song, Bingrui Xiong, Hua Zheng, Anne Manyande, Xuehai Guan, Fei Cao, Lifang Ren, Yaqun Zhou, Dawei Ye, Yuke Tian
Major histocompatibility class II (MHC II)-specific activation of CD4(+) T helper cells generates specific and persistent adaptive immunity against tumors. Emerging evidence demonstrates that MHC II is also involved in basic pain perception; however, little is known regarding its role in the development of cancer-induced bone pain (CIBP). In this study, we demonstrate that MHC II expression was markedly induced on the spinal microglia of CIBP rats in response to STAT1 phosphorylation. Mechanical allodynia was ameliorated by either pharmacological or genetic inhibition of MHC II upregulation, which was also attenuated by the inhibition of pSTAT1 and pERK but was deteriorated by intrathecal injection of IFNγ...
October 11, 2016: Brain, Behavior, and Immunity
Fernando Salvador, Elena Sulleiro, Adrián Sánchez-Montalvá, Carmen Alonso, Javier Santos, Isabel Fuentes, Israel Molina
BACKGROUND: Blastocystis spp. are among the most frequently observed intestinal parasites in humans. Despite the discovery of Blastocystis approximately 100 years ago, limited information is available regarding its pathogenesis, genetic diversity, and available treatment options. The aim of this study was to describe the epidemiological and clinical characteristics of patients with Blastocystis sp. infections diagnosed at Vall d'Hebron University Hospital (Barcelona, Spain). METHODS: A retrospective observational study was performed which included all adult patients who attended Vall d'Hebron University Hospital from February 2009 to March 2014 that had Blastocystis sp...
October 14, 2016: Parasites & Vectors
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
Russell S Frautschi, Brianna Halasa, Susan Orra, Karolina Mlynek, Charles P Steiner, Francis A Papay
The sphenopalatine ganglion is an extracranial neural structure within the pterygopalatine fossa. Modulation of this region via implantation of a neuromodulatory device presents a novel therapy for the treatment of facial and head pain. Yet sex, race, and genetic factors contribute to morphological variations between individuals. This study defines the standards and variations of the bony landmarks surrounding the pterygopalatine fossa. One hundred dry skulls were analyzed from the Hamann-Todd osteological collection...
October 2016: Journal of Craniofacial Surgery
Pooria Sarrami, Elizabeth Armstrong, Justine M Naylor, Ian A Harris
BACKGROUND: Whiplash injuries are among the leading injuries related to car crashes and it is important to determine the prognostic factors that predict the outcome of patients with these injuries. This meta-review aims to identify factors that are associated with outcome after acute whiplash injury. MATERIALS AND METHODS: A systematic search for all systematic reviews on outcome prediction of acute whiplash injury was conducted across several electronic databases...
October 13, 2016: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
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
Mark A DeWitt, Wendy Magis, Nicolas L Bray, Tianjiao Wang, Jennifer R Berman, Fabrizia Urbinati, Seok-Jin Heo, Therese Mitros, Denise P Muñoz, Dario Boffelli, Donald B Kohn, Mark C Walters, Dana Carroll, David I K Martin, Jacob E Corn
Genetic diseases of blood cells are prime candidates for treatment through ex vivo gene editing of CD34(+) hematopoietic stem/progenitor cells (HSPCs), and a variety of technologies have been proposed to treat these disorders. Sickle cell disease (SCD) is a recessive genetic disorder caused by a single-nucleotide polymorphism in the β-globin gene (HBB). Sickle hemoglobin damages erythrocytes, causing vasoocclusion, severe pain, progressive organ damage, and premature death. We optimize design and delivery parameters of a ribonucleoprotein (RNP) complex comprising Cas9 protein and unmodified single guide RNA, together with a single-stranded DNA oligonucleotide donor (ssODN), to enable efficient replacement of the SCD mutation in human HSPCs...
October 12, 2016: Science Translational Medicine
Dhungana Hemanta, Xiao-Xing Jiang, Zhen-Zhou Feng, Zi-Xian Chen, Yuan-Wu Cao
Degenerative disc disease is a multifaceted progressive irreversible condition and an inevitable part of aging, which has been found to be a contributing factor for low back pain and might cause radiculopathy, myelopathy, spinal stenosis, degenerative spondylolisthesis, and herniations. Its etiology is complex and multifactorial. Although genetics influence more dominant, the occupational and mechanical influences still persist as a major risk factor. This review emphasizes up-to-date knowledge regarding etiology of disc degeneration with special consideration on occupational, lifestyle factors, and genetic polymorphisms...
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
Cameron L Randall, John R Shaffer, Daniel W McNeil, Richard J Crout, Robert J Weyant, Mary L Marazita
OBJECTIVES: Dental fear is a prevalent problem that impacts dental treatment-seeking behavior and thus oral, systemic, and psychological health. Among other important predictors, fear of pain has been shown to be a critical component of dental fear. While learning history (id est, past experience) is known to shape development and maintenance of dental fear and fear of pain, minimal work has addressed genetic etiological variables for these healthcare-related anxieties. With the aim of coming to a more complete conceptualization of dental fear, this study assessed the heritability of dental fear and fear of pain and elucidated the role of genetics in the relation between the constructs...
October 11, 2016: Community Dentistry and Oral Epidemiology
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