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https://www.readbyqxmd.com/read/29669291/a-cyfip2-dependent-excitatory-interneuron-pathway-establishes-the-innate-startle-threshold
#1
Kurt C Marsden, Roshan A Jain, Marc A Wolman, Fabio A Echeverry, Jessica C Nelson, Katharina E Hayer, Ben Miltenberg, Alberto E Pereda, Michael Granato
Sensory experiences dynamically modify whether animals respond to a given stimulus, but it is unclear how innate behavioral thresholds are established. Here, we identify molecular and circuit-level mechanisms underlying the innate threshold of the zebrafish startle response. From a forward genetic screen, we isolated five mutant lines with reduced innate startle thresholds. Using whole-genome sequencing, we identify the causative mutation for one line to be in the fragile X mental retardation protein (FMRP)-interacting protein cyfip2...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29623052/the-relationship-between-range-of-motion-and-injuries-in-adolescent-dancers-and-sportspersons-a-systematic-review
#2
Joyce M Storm, Roger Wolman, Eric W P Bakker, Matthew A Wyon
Background: The frequent and intensive training and performance of pre-professional ballet dancers and sportspersons is offered at a time when young ballet dancers and young athletes may be vulnerable to injury due to the progress through adolescence and growth spurts. Hypothesis: There are changes in range of motion during the progress through adolescence and growth periods in dancers and sportspersons. These changes in ROM can be linked to the increase of injury. Objectives: The primary aim of this systematic review is to determine whether there are changes in ROM during the progress through adolescence and growth spurts in dancers and sportspersons...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29555872/can-diffusion-and-perfusion-weighted-imaging-alone-accurately-triage-anterior-circulation-acute-ischemic-stroke-patients-to-endovascular-therapy
#3
Dylan N Wolman, Michael Iv, Max Wintermark, Gregory Zaharchuk, Michael P Marks, Huy M Do, Robert L Dodd, Gregory W Albers, Maarten G Lansberg, Jeremy J Heit
BACKGROUND AND PURPOSE: Acute ischemic stroke (AIS) patients who benefit from endovascular treatment have a large vessel occlusion (LVO), small core infarction, and salvageable brain. We determined if diffusion-weighted imaging (DWI) and perfusion-weighted imaging (PWI) alone can correctly identify and localize anterior circulation LVO and accurately triage patients to endovascular thrombectomy (ET). MATERIALS AND METHODS: This retrospective cohort study included patients undergoing MRI for the evaluation of AIS symptoms...
March 19, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29547398/lysosomal-acid-lipase-and-lipid-metabolism-new-mechanisms-new-questions-and-new-therapies
#4
Hanrui Zhang
PURPOSE OF REVIEW: Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency. RECENT FINDINGS: The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency...
March 15, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29480518/early-transient-prenatal-ultrasound-features-of-choanal-atresia
#5
Moshe Bronshtein, Zvi Leibovitz, Gaby Laham, Sandro Egenburg, Igal Wolman, Ron Bardin
We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia...
February 26, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29476017/administration-of-hypoxia-activated-prodrug-evofosfamide-after-adjuvant-therapy-enhances-therapeutic-outcome-and-targets-cancer-initiating-cells-in-colorectal-cancer
#6
Jennifer Haynes, Trevor D McKee, Andrew C Haller, Yadong Wang, Cherry Leung, Deena M A Gendoo, Evelyne Lima-Fernandes, Antonia Kreso, Robin Wolman, Eva Szentgyorgyi, Douglass C Vines, Benjamin Haibe-Kains, Bradly G Wouters, Ur Metser, David A Jaffray, Myles Smith, Catherine A O'Brien
PURPOSE: Cancer-initiating cells (C-ICs) have been described in multiple cancer types, including colorectal cancer (CRC). C-ICs are defined by their capacity to self-renew, thereby driving tumor growth. C-ICs were initially thought to be static entities, however recent studies have determined these cells to be dynamic and influenced by microenvironmental cues such as hypoxia. If hypoxia drives the formation of C-ICs, then targeting hypoxia could represent a novel means to target C-ICs...
February 23, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#7
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29374495/long-term-substrate-reduction-therapy-with-ezetimibe-alone-or-associated-with-statins-in-three-adult-patients-with-lysosomal-acid-lipase-deficiency
#8
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased...
January 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29339442/specific-substrate-for-the-assay-of-lysosomal-acid-lipase
#9
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL...
April 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29246491/impact-of-loss-of-soat2-function-on-disease-progression-in-the-lysosomal-acid-lipase-deficient-mouse
#10
Adam M Lopez, Jen-Chieh Chuang, Stephen D Turley
Although only a small proportion of cholesterol in the body is esterified, in several diseases marked expansion of the esterified cholesterol (EC) pool occurs. These include Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD) which both result from mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). The respective contributions that our three cholesterol esterifying enzymes make to EC production, especially in disorders like CESD, are not well defined. The current studies represent a detailed exploration of our earlier findings in young male LAL-deficient mice also missing sterol O-acyltransferase 2 (SOAT2, also called ACAT2)...
February 2018: Steroids
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#11
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/29193855/sulfanilic-acid-modified-chitosan-mini-spheres-and-their-application-for-lysozyme-purification-from-egg-white
#12
Daniela B Hirsch, María F Baieli, Nicolás Urtasun, Juan M Lázaro-Martínez, Romina J Glisoni, María V Miranda, Osvaldo Cascone, Federico J Wolman
A cation exchange matrix with zwitterionic and multimodal properties was synthesized by a simple reaction sequence coupling sulfanilic acid to a chitosan based support. The novel chromatographic matrix was physico-chemically characterized by ss-NMR and ζ potential, and its chromatographic performance was evaluated for lysozyme purification from diluted egg white. The maximum adsorption capacity, calculated according to Langmuir adsorption isotherm, was 50.07 ± 1.47 mg g-1 while the dissociation constant was 0...
November 29, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/29101446/analyzing-the-presentation-and-the-stigma-of-schizophrenia-in-french-newspapers
#13
Dimitrios Lampropoulos, Angelika Wolman, Thémis Apostolidis
PURPOSE: It has been suggested that the stigmatizing presentation of people with schizophrenia by newspapers is an example of structural stigma. In this study, we explore how French newspapers contribute to the stigma of people with schizophrenia. METHODS: All the articles of eight major newspapers (four national and four regional) that include the term schizophr* and that were published in 2015 were therefore analyzed using a coding scheme that we developed inductively...
December 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/29061699/hud-and-the-survival-motor-neuron-protein-interact-in-motoneurons-and-are-essential-for-motoneuron-development-function-and-mrna-regulation
#14
Thi Hao le, Phan Q Duy, Min An, Jared Talbot, Chitra C Iyer, Marc Wolman, Christine E Beattie
Motoneurons establish a critical link between the CNS and muscles. If motoneurons do not develop correctly, they cannot form the required connections, resulting in movement defects or paralysis. Compromised development can also lead to degeneration because the motoneuron is not set up to function properly. Little is known, however, regarding the mechanisms that control vertebrate motoneuron development, particularly the later stages of axon branch and dendrite formation. The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein leading to defects in vertebrate motoneuron development and synapse formation...
November 29, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29019745/imaging-of-nonmalignant-adrenal-lesions-in-children
#15
Kiran M Sargar, Geetika Khanna, Rebecca Hulett Bowling
The adrenal glands in children can be affected by a variety of benign lesions. The diagnosis of adrenal lesions can be challenging, but assessment of morphologic changes in correlation with the clinical presentation can lead to an accurate diagnosis. These lesions can be classified by their cause: congenital (eg, discoid adrenal gland, horseshoe adrenal gland, and epithelial cysts), vascular and/or traumatic (eg, adrenal hemorrhage), infectious (eg, granulomatous diseases), enzyme deficiency disorders (eg, congenital adrenal hyperplasia [CAH] and Wolman disease), benign neoplasms (eg, pheochromocytomas, ganglioneuromas, adrenal adenomas, and myelolipomas), and adrenal mass mimics (eg, extralobar sequestration and extramedullary hematopoiesis)...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28888831/steryl-ester-synthesis-storage-and-hydrolysis-a-contribution-to-sterol-homeostasis
#16
REVIEW
Martina Korber, Isabella Klein, Günther Daum
Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human diseases, namely Wolman disease, cholesteryl ester storage disease, atherosclerosis and Alzheimer's disease, Niemann-Pick type C and Tangier disease is described...
December 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28724486/behavioral-characteristics-of-adult-zebrafish-danio-rerio-after-ms222-anesthesia-for-fin-excision
#17
Mélissa Cm De Lombaert, Elizabeth L Rick, Lisa A Krugner-Higby, Marc A Wolman
The health of laboratory animals is an ethical responsibility of researchers and a critical determinant of experimental outcome. Therefore, all husbandry procedures should be evaluated for their effects on mortality, behavior, and physiology to maximize animal welfare and minimize experimental variability. For adult zebrafish, the excision of a small portion of the caudal fin (that is, 'fin clipping') under MS222 anesthesia is a common procedure to obtain tissue for genotyping. The potential effect of this procedure on behavioral and physiologic assays of feeding, anxiety, and stress has not previously been assessed...
July 1, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#18
Francis Aguisanda, Charles D Yeh, Catherine Z Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
BACKGROUND: Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no small-molecule drug treatment for WD. RESULTS: We have generated induced pluripotent stem cells (iPSCs) from two WD patient dermal fibroblast lines and subsequently differentiated them into neural stem cells (NSCs)...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28653562/mcgill-thyroid-nodule-score-in-differentiating-benign-and-malignant-pediatric-thyroid-nodules-a-pilot-study
#19
Michael Canfarotta, Douglas Moote, Christine Finck, Rebecca Riba-Wolman, Shefali Thaker, Trudy J Lerer, Richard J Payne, Valerie Cote
Objective The McGill Thyroid Nodule Score (MTNS) is a preoperative tool used to predict the risk for well-differentiated thyroid cancer given a specific nodule in adults. We evaluated the clinical utility of a modified pediatric MTNS with children and adolescents. Study Design Case series with chart review. Setting Tertiary care children's hospital. Subjects and Methods This is a retrospective chart review of 46 patients ≤18 years of age presenting with a solitary or dominant thyroid nodule treated with surgical resection between September 2008 and December 2015...
October 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28621255/behavioral-characteristics-of-adult-zebrafish-danio-rerio-after-ms222-anesthesia-for-fin-excision
#20
Mélissa Cm De Lombaert, Elizabeth L Rick, Lisa A Krugner-Higby, Marc A Wolman
The health of laboratory animals is an ethical responsibility of researchers and a critical determinant of experimentaloutcome. Therefore, all husbandry procedures should be evaluated for their effects on mortality, behavior, and physiologyto maximize animal welfare and minimize experimental variability. For adult zebrafish, the excision of a small portion ofthe caudal fin (that is, 'fin clipping') under MS222 anesthesia is a common procedure to obtain tissue for genotyping. Thepotential effect of this procedure on behavioral and physiologic assays of feeding, anxiety, and stress has not previously beenassessed...
June 15, 2017: Journal of the American Association for Laboratory Animal Science: JAALAS
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