keyword
MENU ▼
Read by QxMD icon Read
search

MPS 6

keyword
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#1
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28198536/prevalence-of-risk-factors-and-asymptomatic-carotid-atherosclerosis-in-diabetic-patients-screened-for-silent-myocardial-ischemia-by-spect-myocardial-imaging
#2
Irena Peovska Mitevska, Natalija Baneva, Marijan Bosevski, Elizabeta Srbinovska Kostovska
BACKGROUND: The aim of the study was to evaluate whether there is any association between myocardial ischemia, common risk factors and carotid artery ultrasound parameters in asymptomatic type 2 diabetic (DMT2) patients. MATERIAL AND METHODS: 60 asymptomatic DMT2 patients (pts) without known coronary artery disease (CAD) underwent one day rest Dypiridamole stress Tc-99m sestamibi single photon emission computed tomography myocardial perfusion scintigraphy (MPS)...
2017: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#3
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28193505/statistical-modelling-of-ion-pgm-hid-str-10-plex-mps-data
#4
Søren B Vilsen, Torben Tvedebrink, Helle Smidt Mogensen, Niels Morling
We investigated the results of short tandem repeat (STR) markers of dilution series experiments and reference profiles generated using the Ion PGM massively parallel sequencing platform utilising the HID STR 10-plex panel. The STR markers were identified by the marker specific flanking regions of the STR region. We investigated the following: (1) the usage of quality measures for identifying substitution errors, (2) the heterozygote balance and compared it to that of capillary electrophoresis (CE), (3) the stability of the coverage and the consequence of IonExpress Barcode adapter (IBA) sampling with decreasing amounts of template DNA, (4) the hypothesis that the parental longest uninterrupted stretch (LUS) is a better linear predictor of stutter ratio than the parent allele length, (5) the use of parental allele length as a predictor of shoulder ratio, and (6) the removal of non-systematic erroneous sequences using dynamic thresholds created by fitting the distribution of the non-systematic erroneous sequences...
February 3, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#5
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28168351/circulating-microparticles-and-the-risk-of-thromboembolic-events-in-egyptian-beta-thalassemia-patients
#6
Ilham Youssry, Nohair Soliman, Mona Ghamrawy, Rania Mohamed Samy, Amal Nasr, Mohamed Abdel Mohsen, Mohamed ElShahaat, Rayan Bou Fakhredin, Ali Taher
The presence of elevated numbers of circulating microparticles (MPs) has been hypothesized to be responsible for the occurrence of thromboembolic events (TEEs) in thalassemic patients. Our aim is to evaluate the presence and the thrombotic risk of circulating MPs in thalassemia patients and to determine the difference in MPs between β-thalassemia major (β-TM) and thalassemia intermedia (TI). The percentage of the annexin-labeled MPs, platelet-derived MPs (PMPs), erythrocyte-derived MPs (RMPs), and endothelial-derived MPs (EMPs) was measured by flow cytometry, in 87 thalassemia patients (39 β-TM and 48 TI)...
February 7, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28166200/upregulation-of-marcks-in-kidney-cancer-and-its-potential-as-a-therapeutic-target
#7
C-H Chen, L W R Fong, E Yu, R Wu, J F Trott, R H Weiss
Targeted therapeutics, such as those abrogating hypoxia inducible factor (HIF)/vascular endothelial growth factor signaling, are initially effective against kidney cancer (or renal cell carcinoma, RCC); however, drug resistance frequently occurs via subsequent activation of alternative pathways. Through genome-scale integrated analysis of the HIF-α network, we identified the major protein kinase C substrate MARCKS (myristoylated alanine-rich C kinase substrate) as a potential target molecule for kidney cancer...
February 6, 2017: Oncogene
https://www.readbyqxmd.com/read/28158152/effects-of-dry-needling-on-spinal-mobility-and-trigger-points-in-patients-with-fibromyalgia-syndrome
#8
Adelaida Maria Castro-Sanchez, Hector Garcia-Lopez, Guillermo A Mataran-Penarrocha, Manuel Fernandez-Sanchez, Cayetano Fernandez-Sola, Jose Granero-Molina, Maria Encarnacion Aguilar-Ferrandiz
BACKGROUND: The etiology of fibromyalgia syndrome (FMS) is inconclusive, but central mechanisms are well accepted for this pain condition. Myofascial pain syndrome (MPS) is one of the most common musculoskeletal pain diseases and is characterized by myofascial trigger points (MTrPs). It has been suggest that MTrPs have an important factor in the genesis of FMS. OBJECTIVE: The purpose of the current randomized clinical trial was to compare the effectiveness of dry needling versus cross tape on spinal mobility and MTrPs in spinal muscles in patients with FMS...
February 2017: Pain Physician
https://www.readbyqxmd.com/read/28150116/subcutaneous-implantation-of%C3%A2-microencapsulated-cells-overexpressing-%C3%AE-l-iduronidase-for-mucopolysaccharidosis-type-i-treatment
#9
Valeska Lizzi Lagranha, Barbara Zambiasi Martinelli, Guilherme Baldo, Giuseppe Ávila Testa, Talita Giacomet de Carvalho, Roberto Giugliani, Ursula Matte
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of α-L-iduronidase (IDUA), resulting in accumulation of glycosaminoglycans (GAG) in lysosomes. Microencapsulation of recombinant cells is a promising gene/cell therapy approach that could overcome the limitations of the current available treatments. In the present study we produced alginate-poly-L-lysine-alginate (APA) microcapsules containing recombinant cells overexpressing IDUA, which were implanted in the subcutaneous space of MPS I mice in order to evaluate their potential effect as a treatment for this disease...
March 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28139111/relationship-between-ice-hockey-specific-complex-test-and-maximal-strength-aerobic-capacity-and-postural-regulation-in-professional-players
#10
René Schwesig, Souhail Hermassi, Sebastian Edelmann, Ulrike Thorhauer, Stephan Schulze, Georg Fieseler, Karl S Delank, Roy J Shephard, Mohamed S Chelly
BACKGROUND: We aimed to examine the validity of an ice hockey-specific complex test (IHCT) and nonspecific off-ice tests for sports performance. METHODS: Eighteen professional athletes (27.4 ± 6.0 years) underwent the IHCT, maximal strength squat tests, an endurance cycling test (PWC 170) and posturography during in the first week of the pre-seasonal training. The IHCT included parameters of load (e.g., 10m and 30m sprint, transition and weave agility without and with puck, slap and wrist shots before and after the test)...
January 31, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28138910/spray-dried-thiolated-chitosan-coated-sodium-alginate-multilayer-microparticles-for-vaginal-hiv-microbicide-delivery
#11
Jianing Meng, Vivek Agrahari, Miezan J Ezoulin, Sudhaunshu S Purohit, Tao Zhang, Agostino Molteni, Daniel Dim, Nathan A Oyler, Bi-Botti C Youan
It is hypothesized that novel thiolated chitosan-coated multilayer microparticles (MPs) with enhanced drug loading are more mucoadhesive than uncoated MPs and safe in vivo for vaginal delivery of topical anti-HIV microbicide. Formulation optimization is achieved through a custom experimental design and the alginate (AG) MPs cores are prepared using the spray drying method. The optimal MPs are then coated with the thiolated chitosan (TCS) using a layer-by-layer method. The morphological analysis, in situ drug payload, in vitro drug release profile, and mucoadhesion potential of the MPs are carried out using scanning electron microscopy, solid-state (31)P NMR spectroscopy, UV spectroscopy, fluorescence imaging and periodic acid Schiff method, respectively...
January 30, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28137635/in-silico-analysis-of-the-biomechanical-stability-of-commercially-pure-ti-and-ti-15mo-plates-for-the-treatment-of-mandibular-angle-fracture
#12
Satoshi Yamaguchi, Rodolfo B Anchieta, Fernando P S Guastaldi, Nick Tovar, Daisuke Tawara, Satoshi Imazato, Paulo G Coelho
PURPOSE: To investigate the influence of different materials and fixation methods on maximum principal stress (MPS) and displacement in reconstruction plates using in silico 3-dimensional finite element analysis (3D-FEA). MATERIALS AND METHODS: Computer-assisted designed (CAD) models of the mandible and teeth were constructed. Champy and AO/ASIF plates and fixation screws were designed with CAD software. 3D-FEA was performed by image-based CAE software. Maximum and minimum values of biomechanical stability, MPS, and displacement distribution were compared in Champy and AO/ASIF plates made from commercially pure titanium grade 2 (cp-Ti) and a titanium-and-molybdenum (14...
January 4, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28125666/mononuclear-phagocytes-are-dispensable-for-cardiac-remodeling-in-established-pressure-overload-heart-failure
#13
Bindiya Patel, Mohamed Ameen Ismahil, Tariq Hamid, Shyam S Bansal, Sumanth D Prabhu
BACKGROUND: Although cardiac and splenic mononuclear phagocytes (MPs), i.e., monocytes, macrophages and dendritic cells (DCs), are key contributors to cardiac remodeling after myocardial infarction, their role in pressure-overload remodeling is unclear. We tested the hypothesis that these immune cells are required for the progression of remodeling in pressure-overload heart failure (HF), and that MP depletion would ameliorate remodeling. METHODS AND RESULTS: C57BL/6 mice were subjected to transverse aortic constriction (TAC) or sham operation, and assessed for alterations in MPs...
2017: PloS One
https://www.readbyqxmd.com/read/28119821/immune-tolerance-induction-for-laronidase-treatment-in-mucopolysaccharidosis-i
#14
Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N Semyachkina, Victoria Y Voinova, Susan Richards, Gerald F Cox, Yong Xue
: Enzyme replacement therapy (ERT) can produce anti-drug antibody (ADA) responses that reduce efficacy or lead to hypersensitivity reactions. Six patients with severe mucopolysaccharidosis type I (MPS I/Hurler syndrome) who did not receive hematopoietic stem cell transplantation underwent an immunosuppression regimen prior to initiating ERT with laronidase. The primary endpoint for immune tolerance induction was the number of patients with an ADA titer ≤ 3200 after 24 weeks of laronidase at the labeled dose...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28106155/secreted-mir-27a-induced-by-cyclic-stretch-modulates-the-proliferation-of-endothelial-cells-in-hypertension-via-grk6
#15
Lu Wang, Han Bao, Kai-Xuan Wang, Ping Zhang, Qing-Ping Yao, Xiao-Hu Chen, Kai Huang, Ying-Xin Qi, Zong-Lai Jiang
Abnormal proliferation of endothelial cells (ECs) is important in vascular remodeling during hypertension, but the mechanisms are still unclear. In hypertensive rats caused by abdominal aortic coarctation, the expression of G-protein-coupled receptor kinase 6 (GRK6) in ECs at common carotid artery was repressed in vivo, and EC proliferation was increased. 15% cyclic stretch in vitro, which mimics the pathologically increased stretch in hypertension, repressed EC GRK6 expression via paracrine control by vascular smooth muscle cells (VSMCs)...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28104572/progressive-heart-disease-in-mucopolysaccharidosis-type-i-mice-may-be-mediated-by-increased-cathepsin-b-activity
#16
Guilherme Baldo, Angela Maria Vicente Tavares, Esteban Gonzalez, Edina Poletto, Fabiana Quoos Mayer, Ursula da Silveira Matte, Roberto Giugliani
Mucopolysaccharidosis type I (MPS I) is a lysosomal disorder characterized by a deficiency of alpha-L-iduronidase and storage of undegraded glycosaminoglycans (GAGs). Clinical findings of the disease include heart failure, and patients often need valve replacement. It has been shown that, later in life, MPS I mice develop those abnormalities, but to date, there have not been studies on the progression and pathogenesis of the disease. Therefore, in the present study, we evaluated heart function in normal and MPS I male mice from 2 to 8 months of age...
January 6, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#17
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28098417/delivery-of-anesthesia-for-children-with-mucopolysaccharidosis-type-iii-sanfilippo-syndrome-a-review-of-86-anesthetics
#18
Marc A Cohen, Grant M Stuart
BACKGROUND: Sanfilippo syndrome (MPS III) is rare, with 97 cases in the United Kingdom between 1988 and 1998. Mucopolysaccharide infiltration of tissues in mucopolysaccharidosis (MPS) causes multi-systemic pathology including difficult airways and cardiac disease. Published anesthesia case reviews of Sanfilippo syndrome have included limited numbers of patients to date. AIM: To identify the perioperative management and complications of anesthesia in children with mucopolysaccharidosis Type III at Great Ormond Street Hospital...
January 18, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28088454/alpha-l-iduronidase-and-arylsulfatase-b-in-dried-blood-spots-on-filter-paper-biochemical-parameters-and-time-stability
#19
Ana Carolina Breier, Jaqueline Cé, Jamila Mezzalira, Vanessa V Daitx, Vitoria C Moraes, Mariana P S Goldim, Janice C Coelho
BACKGROUND: The goal of this study was to assess the biochemical parameters of the enzymes α-l-iduronidase (IDUA) and arylsulfatase B (ASB), which are deficient in mucopolysaccharidosis (MPS) I and VI, respectively, in dried blood spot (DBS) samples impregnated on filter paper. METHODS AND RESULTS: The optimal pH, Km, and Vmax of IDUA and ASB in DBS are hereby presented. After these analyses, the reference values for the activities of these enzymes in DBS with cutoff of 3...
January 11, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28081172/influence-of-corneal-opacity-on-intraocular-pressure-assessment-in-patients-with-lysosomal-storage-diseases
#20
Joanna Wasielica-Poslednik, Giuseppe Politino, Irene Schmidtmann, Katrin Lorenz, Katharina Bell, Norbert Pfeiffer, Susanne Pitz
AIMS: To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. METHODS: 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam...
2017: PloS One
keyword
keyword
106266
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"