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https://www.readbyqxmd.com/read/28212115/predictor-of-hand-radiological-progression-in-patients-with-rheumatoid-arthritis-receiving-tnf-antagonist-therapy-by-change-in-grayscale-synovitis-a-preliminary-study
#1
Ying-Chou Chen, Fu-Mei Su, Shih-Wei Hsu, Jia-Feng Chen, Tien-Tsai Cheng, Han-Ming Lai, Wen-Chan Chiu
OBJECTIVES: This prospective study aimed to compare synovial ultrasound scores to conventional measures (DAS28, CRP levels) in predicting radiographic progression in patients with rheumatoid arthritis under TNF antagonist therapy. METHODS: Patients with RA who received TNF antagonist therapy were enrolled, all of whom underwent clinical, laboratory, and ultrasonographic assessments with grayscale and power Doppler assessments of bilateral elbows (anterior and posterior recess), wrists (dorsal, palmar, and ulnar aspects), second and third MCP joints (dorsal and palmar recess), and PIP II and III (dorsal and palmar) at baseline and at 1, 3 months...
February 17, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28211174/saitohin-q7r-polymorphism-is-associated-with-late-onset-alzheimer-s-disease-susceptibility-among-caucasian-populations-a-meta-analysis
#2
REVIEW
Rong Huang, Sai Tian, Rongrong Cai, Jie Sun, Wenqing Xia, Xue Dong, Yanjue Shen, Shaohua Wang
Saitohin (STH) Q7R polymorphism has been reported to influence the individual's susceptibility to Alzheimer's disease (AD); however, conclusions remain controversial. Therefore, we performed this meta-analysis to explore the association between STH Q7R polymorphism and AD risk. Systematic literature searches were performed in the PubMed, Embase, Cochrane Library and Web of Science for studies published before 31 August 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of the association using a fixed- or random-effects model...
February 17, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28210455/morphea-en-coup-de-sabre-an-unusual-oral-presentation
#3
Sven Niklander, Constanza Marín, René Martínez, Alfredo Esguep
Morphea, or localized scleroderma, is an inflammatory disease that leads to sclerosis of the skin and underlying tissues due to excessive collagen deposition. Oral involvement is unusual and it may produce white linear fibrotic areas with a scar-like appearance, atrophy of tongue papillae, gingival recession and alveolar bone resorption. We report a case of a 13-year-old girl who consulted for progressive recession on the attached gingiva of her upper left incisors. She also presented a hypopigmented line on the left side skin of her upper lip, which continued through the vermilion and the lip mucosa, including the gingiva of the affected teeth...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28210295/global-impact-of-bronchiectasis-and-cystic-fibrosis
#4
REVIEW
Margarida Redondo, Holly Keyt, Raja Dhar, James D Chalmers
EDUCATIONAL AIMS: To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis.To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. : Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections...
September 2016: Breathe
https://www.readbyqxmd.com/read/28210175/association-between-vegf-polymorphisms-460-t-c-and-936-c-t-and-retinopathy-of-prematurity-risk-a-meta-analysis
#5
Swati Shukla, Manzoor Ahmad Malik, Parijat Chandra, Jasbir Kaur
PURPOSE: Vascular endothelial growth factor (VEGF) contributes to the development of retinopathy of prematurity (ROP). A number of studies investigated the association of ROP with VEGF -460 T/C and +936 C/T polymorphisms but the results were conflicting. In order to derive a more precise estimation of the associations, we performed a meta-analysis of the relationship between VEGF -460 T/C and +936 C/T polymorphisms with ROP in all published studies. METHODS: A literature search was performed systematically using electronic databases...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28210098/mertk-gene-expression-and-photoreceptor-outer-segment-phagocytosis-by-cultured-rat-bone-marrow-mesenchymal-stem-cells
#6
Rong-Mei Peng, Jing Hong, Ying Jin, Yu-Zhao Sun, Yi-Qian Sun, Pei Zhang
BACKGROUND: Bone marrow mesenchymal stem cells (BM-MSCs) are multipotential stem cells that have been used for a broad spectrum of indications. Several investigations have used BM-MSCs to promote photoreceptor survival and suggested that BM-MSCs are a potential source of cell replacement therapy for some forms of retinal degeneration. PURPOSE: To investigate the expression of the MER proto-oncogene, tyrosine kinase (Mertk), involved in the disruption of RPE phagocytosis and the onset of autosomal recessive retinitis pigmentosa in rat BM-MSCs and to compare phagocytosis of the photoreceptor outer segment (POS) by BM-MSCs and RPE cells in vitro...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28208841/assessment-of-correlation-between-sweat-chloride-levels-and-clinical-features-of-cystic-fibrosis-patients
#7
Manzoor A Raina, Mosin S Khan, Showkat A Malik, Ab Hameed Raina, Mudassir J Makhdoomi, Javed I Bhat, Syed Mudassar
INTRODUCTION: Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. AIM: The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. MATERIALS AND METHODS: A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208223/conceptualization-of-karstic-aquifer-with-multiple-outlets-using-a-dual-porosity-model
#8
Seiyed Mossa Hosseini, Behzad Ataie-Ashtiani
In this study, two conceptual models, the classic reservoir (CR) model and exchange reservoirs model embedded by dual porosity approach (DPR) are developed for simulation of karst aquifer functioning drained by multiple outlets. The performances of two developed models are demonstrated at a less developed karstic aquifer with three spring outlets located in Zagros Mountain in the south-west of Iran using 22-years of daily data. During the surface recharge, a production function based on water mass balance is implemented for computing the time series of surface recharge to the karst formations...
February 16, 2017: Ground Water
https://www.readbyqxmd.com/read/28207948/right-sided-aortic-arch-in-the-age-of-microarray
#9
Edward F O'Mahony, Darren P Hutchinson, George McGillivray, Debbie L Nisbet, Ricardo Palma-Dias
OBJECTIVE: For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy we aimed to establish the frequency of chromosomal anomaly diagnosed with SNP microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and 6 probe fish (13,18,21, X,Y, TUPLE). METHOD: Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207889/genetic-variation-of-maturity-groups-and-four-e-genes-in-the-chinese-soybean-mini-core-collection
#10
Jicun Li, Xiaobo Wang, Wenwen Song, Xinyang Huang, Jing Zhou, Haiyan Zeng, Shi Sun, Hongchang Jia, Wenbin Li, Xinan Zhou, Suzhen Li, Pengyin Chen, Cunxiang Wu, Yong Guo, Tianfu Han, Lijuan Qiu
The mini core collection (MCC) has been established by streamlining core collection (CC) chosen from China National Genebank including 23,587 soybean (Glycine max) accessions by morphological traits and simple sequence repeat (SSR) markers. Few studies have been focused on the maturity that has been considered as one of the most critical traits for the determination of the adaptation-growing region of the soybean. In the current study, two hundred and ninty-nine accessions of MCC planted for two years at four locations namely in Heihe, Harbin, Jining and Wuhan cities in China were used to assess the variation of maturity in MCC and identify the integrated effect of 4 E loci on flowering and maturity time in soybean...
2017: PloS One
https://www.readbyqxmd.com/read/28207326/micro-rna-146a-but-not-irak1-is-associated-with-rheumatoid-arthritis-in-the-tunisian-population
#11
Hana Ben Hassine, Asma Boumiza, Rim Sghiri, Khadija Baccouche, Imen Boussaid, Ahlem Atig, Zahid Shakoor, Elyes Bouajina, Ramzi Zemni
BACKGROUND: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway. Interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/IL-1R (TIR) homology domain. This motif is required for NF-κB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28206959/association-of-polymorphisms-rs1800012-in-col1a1-with-sports-related-tendon-and-ligament-injuries-a-meta-analysis
#12
REVIEW
Chunguang Wang, Hao Li, Kang Chen, Bing Wu, Haifeng Liu
It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 might be associated with the susceptibility to sports-related tendon and ligament injuries such as ACL injuries, Achilles tendon injuries, shoulder dislocations and tennis elbow. But the data from different studies have been conflicting. Here we attempted to systematically summarize and clarify the association between the SNP and sports-related tendon and ligament injuries risk. Six eligible studies including 933 cases and 1,381 controls were acquired from PubMed, Web Of Science and Cochrane library databases...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28206698/fkbp10-deletion-in-osteoblasts-leads-to-qualitative-defects-in-bone
#13
Caressa D Lietman, Joohyun Lim, Ingo Grafe, Yuqing Chen, Hao Ding, Xiaohong Bi, Catherine G Ambrose, Nadja Fratzl-Zelman, Paul Roschger, Klaus Klaushofer, Wolfgang Wagermaier, Ingo Schmidt, Peter Fratzl, Jyoti Rai, MaryAnn Weis, David Eyre, Douglas R Keene, Deborah Krakow, Brendan H Lee
Osteogenesis Imperfecta (OI), also known as brittle bone disease, displays a spectrum of clinical severity from mild (OI type I) to severe early lethality (OI type II), with clinical features including low bone mass, fractures and deformities. Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65KDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. We previously showed that Fkbp10 expression is limited to bone, tendon and ligaments in postnatal tissues...
February 16, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28205584/a-postnatal-role-for-embryonic-myosin-revealed-by-myh3-mutations-that-alter-tgf%C3%AE-signaling-and-cause-autosomal-dominant-spondylocarpotarsal-synostosis
#14
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, Kimberly N Forlenza, Jorge H Martin, Kelly Heard, Dorothy K Grange, Merlin G Butler, Tjitske Kleefstra, Ralph S Lachman, Deborah Nickerson, Michael Regnier, Daniel H Cohn, Michael Bamshad, Deborah Krakow
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205019/a-deep-azygoesophageal-recess-may-increase-the-risk-of-secondary-spontaneous-pneumothorax
#15
Tsuyoshi Takahashi, Mitsuaki Kawashima, Hideki Kuwano, Kazuhiro Nagayama, Jyunichi Nitadori, Masaki Anraku, Masaaki Sato, Tomohiro Murakawa, Jun Nakajima
PURPOSE: The azygoesophageal recess (AER) is known as a possible cause of bulla formation in patients with spontaneous pneumothorax. However, there has been little focus on the depth of the AER. We evaluated the relationship between the depth of the AER and pneumothorax development. METHODS: We conducted a retrospective study of 80 spontaneous pneumothorax patients who underwent surgery at our institution. We evaluated the depth of the AER on preoperative computed tomography scans...
February 15, 2017: Surgery Today
https://www.readbyqxmd.com/read/28204925/circumferential-fusion-for-degenerative-lumbar-spondylolisthesis-complicated-by-distal-junctional-grade-4-spondylolisthesis-in-the-sub-acute-post-operative-setting
#16
Alexander A Theologis, Deeptee Jain, Christopher P Ames, Murat Pekmezci
INTRODUCTION: Surgical management for lumbar stenosis is generally safe and provides significant improvements in pain, disability, and function. Successful lumbar decompression hinges on removing an appropriate amount of lamina and other compressive pathology in the lateral recess. Too little bony decompression can result in persistent pain and disability, while over resection of the pars and/or facets may jeopardize spinal stability. CASE REPORT: In this unique report, we present for the first time an acute iatrogenic grade 4 L5-S1 spondylolisthesis distal to a L3-5 laminectomy and circumferential instrumented fusion due to bilateral iatrogenic L5 pars fractures and its management and clinical outcomes after revision operation...
February 15, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28203322/congenital-ichthyosis-a-case-treated-successfully-with-acitretin
#17
Selvi Gulasi
INTRODUCTION: Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated successfully with acitretin. CASE PRESENTATION: A term newborn infant presented after delivery...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28203044/a-case-of-sitosterolemia-due-to-compound-heterozygous-mutations-in-abcg5-clinical-features-and-treatment-outcomes-obtained-with-colestimide-and-ezetimibe
#18
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#19
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28202598/early-flowering-3-redundancy-fine-tunes-photoperiod-sensitivity
#20
Andrew J S Rubenach, Valerie Fg Hecht, Jacqueline K Vander Schoor, Lim Chee Liew, Gregoire Aubert, Judith Burstin, James L Weller
Three pea loci controlling photoperiod sensitivity, HIGH RESPONSE (HR), DIE NEUTRALIS (DNE) and STERILE NODES (SN) have recently been shown to correspond to orthologs of Arabidopsis circadian clock genes EARLY FLOWERING3 (ELF3), ELF4, and LUX ARRHYTHMO, respectively. A fourth pea locus, PHOTOPERIOD (PPD), also contributes to the photoperiod response in a similar manner to SN and DNE, and recessive ppd mutants on a spring-flowering hr mutant background show early, photoperiod-insensitive flowering. However, the molecular identity of PPD has so far remained elusive...
February 15, 2017: Plant Physiology
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