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Canavan disease

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https://www.readbyqxmd.com/read/29170500/white-matter-disease-targeted-aspartoacylase-gene-therapy-reverts-canavan-disease
#1
Shimona Starling
No abstract text is available yet for this article.
November 24, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29139195/phenotypic-characteristics-associated-with-slow-gait-speed-in-idiopathic-pulmonary-fibrosis
#2
Claire M Nolan, Matthew Maddocks, Toby M Maher, Jane L Canavan, Sarah E Jones, Ruth E Barker, Suhani Patel, Joseph Jacob, Paul Cullinan, William D-C Man
BACKGROUND AND OBJECTIVE: Usual gait speed over 4 m (4MGS) is an established functional performance measure in older adults that consistently predicts adverse health outcomes, but few data exist in idiopathic pulmonary fibrosis (IPF). We assessed the reliability of 4MGS, its relationship with established outcome measures and its responsiveness to pulmonary rehabilitation. METHODS: In four prospective IPF cohorts, 4MGS inter-observer (n = 46) and test-retest (n = 46) reliability, concurrent validity (n = 65 and n = 62) and responsiveness (n = 60) were determined...
November 14, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29122448/validating-the-association-between-plasma-tumour-necrosis-factor-receptor-1-levels-and-the-presence-of-renal-injury-and-functional-decline-in-patients-with-type-2-diabetes
#3
Alison Doody, Sabrina Jackson, Jessie A Elliott, Ronan J Canavan, C Godson, David Slattery, Patrick J Twomey, Malachi J McKenna, Carel W le Roux, Neil G Docherty
AIMS: Elevated plasma soluble tumour necrosis factor receptor 1 (TNFR1) predicts long-term progression of chronic kidney disease. We investigated the association between elevated TNFR1 and the presence of renal disease in patients with Type 2 diabetes mellitus registering a haemoglobin A1c (HbA1c) >48mmol/mol despite medical therapy. METHODS: Using sensitivity, specificity and regression analyses we interrogated the association between plasma TNFR1 and presence of chronic kidney disease as assessed by the presence of microalbuminuria and/or an estimated glomerular filtration rate of less than 60ml/min/1...
September 18, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#4
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
November 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29057463/alk-positive-primary-cutaneous-anaplastic-large-cell-lymphoma-a-case-report-and-review-of-the-literature
#5
REVIEW
Shamir Geller, Theresa N Canavan, Melissa Pulitzer, Alison J Moskowitz, Patricia L Myskowski
Anaplastic large cell lymphoma (ALCL) limited to the skin is a distinct disease that is designated primary cutaneous ALCL (pcALCL). It has an indolent course with a significantly better prognosis compared to systemic ALCL (sALCL). Anaplastic lymphoma kinase (ALK) expression in lesions of cutaneous ALCL is classically considered to be a marker for skin involvement by sALCL. However, recent reports of patients with ALK-positive pcALCL challenge this concept and raise prognostic and therapeutic dilemmas. Herein, we report a case of ALK-positive pcALCL in a 45-year-old woman who was treated with local radiotherapy...
October 23, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29044366/sustainable-food-systems-for-optimal-planetary-health
#6
Chelsey R Canavan, Ramadhani A Noor, Christopher D Golden, Calestous Juma, Wafaie Fawzi
Sustainable food systems are an important component of a planetary health strategy to reduce the threat of infectious disease, minimize environmental footprint and promote nutrition. Human population trends and dietary transition have led to growing demand for food and increasing production and consumption of meat, amid declining availability of arable land and water. The intensification of livestock production has serious environmental and infectious disease impacts. Land clearing for agriculture alters ecosystems, increases human-wildlife interactions and leads to disease proliferation...
June 1, 2017: Transactions of the Royal Society of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28879937/canavan-disease-with-typical-brain-mri-and-mrs-findings
#7
Anil V Israni, Anirban Mandal
No abstract text is available yet for this article.
September 2017: Neurology India
https://www.readbyqxmd.com/read/28879565/comparative-computational-assessment-of-the-pathogenicity-of-mutations-in-the-aspartoacylase-enzyme
#8
C George Priya Doss, Hatem Zayed
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development of Canavan disease (CD), leading to the deficiency of ASPA activity. Patients with CD were characterized by degeneration of the white matter of the brain. We reported earlier on two patients with severe form of CD that both had two novel missense mutations in the ASPA: c.427 A > G; p. I143V and c...
December 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28657261/rare-case-of-non-tuberculous-mycobacterium-a-diagnostic-dilemma
#9
N Marathe, B Canavan
Non-Tuberculous Mycobacterial (NTM) infections occur in HIV-negative patients with or without underlying lung disease. It is generally felt that these organisms are acquired from the environment. Unlike tuberculosis, there are no convincing data demonstrating human-to-human OR animal-to-human transmission of NTM. We report a case of NTM infection in a 38 year old patient with underlying emphysematous lung disease. The case highlights the diagnostic dilemma which occurs when persistent sputum Acid- Fast Bacilli (AFB) smears are positive, but Nucleic acid amplification test is negative...
February 10, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/28626388/increasing-n-acetylaspartate-in-the-brain-during-postnatal-myelination-does-not-cause-the-cns-pathologies-of-canavan-disease
#10
Abhilash P Appu, John R Moffett, Peethambaran Arun, Sean Moran, Vikram Nambiar, Jishnu K S Krishnan, Narayanan Puthillathu, Aryan M A Namboodiri
Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present study, we tested the effects of elevated NAA in the brain during postnatal development. Mice were administered high doses of the hydrophobic methyl ester of NAA (M-NAA) twice daily starting on day 7 after birth. This treatment increased NAA levels in the brain to those observed in the brains of Nur7 mice, an established model of Canavan disease...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28508091/-mr-spectroscopy-in-metabolic-disorders-of-the-brain
#11
REVIEW
U Yilmaz
CLINICAL ISSUE: Metabolic disorders of the brain often present a particular challenge for the neuroradiologist, since the disorders are rare, changes on conventional MR are often non-specific and there are numerous differential diagnoses for the white substance lesions. STANDARD RADIOLOGICAL METHODS: As a complementary method to conventional brain MRI, MR spectroscopy may help to reduce the scope of the differential diagnosis. Entities with specific MR spectroscopy patterns are Canavan disease, maple syrup urine disease, nonketotic hyperglycinemia and creatine deficiency...
June 2017: Der Radiologe
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#12
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28455435/cd40l-dependent-pathway-is-active-at-various-stages-of-rheumatoid-arthritis-disease-progression
#13
Yanxia Guo, Alice M Walsh, Ursula Fearon, Malcolm D Smith, Mihir D Wechalekar, Xuefeng Yin, Suzanne Cole, Carl Orr, Trudy McGarry, Mary Canavan, Stephan Kelly, Tai-An Lin, Xuejun Liu, Susanna M Proudman, Douglas J Veale, Costantino Pitzalis, Sunil Nagpal
The inflammatory CD40-CD40L pathway is implicated in various autoimmune diseases, but the activity status of this pathway in various stages of rheumatoid arthritis (RA) progression is unknown. In this study, we used gene signatures of CD40L stimulation derived from human immature dendritic cells and naive B cells to assess the expression of CD40-downstream genes in synovial tissues from anti-citrullinated protein Ab-positive arthralgia, undifferentiated arthritis (UA), early RA, and established RA cohorts in comparison with healthy donors...
June 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28373119/photodynamic-therapy-effective-for-the-treatment-of-actinic-keratosis-and-basal-cell-carcinoma-in-bullous-pemphigoid-patients
#14
Theresa N Canavan, Salma Faghri de la Feld, Conway Huang, Naveed Sami
Treating skin cancers and extensive actinic keratosis in patients with bullous pemphigoid (BP) can be challenging. Treatment options pose unique risks in these patients as surgical wounds can have delayed wound healing and photodynamic therapy (PDT) may exacerbate their blistering disease. We report the successful use of PDT to treat actinic keratosis and skin cancers in two patients with BP, both of whom had excellent response to PDT and tolerated treatment without any bullous disease flares. Carefully selected patients with skin cancers and stable, well controlled BP can be safely considered for treatment using PDT...
March 31, 2017: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/28349879/docking-molecular-dynamics-and-free-energy-studies-on-aspartoacylase-mutations-involved-in-canavan-disease
#15
Abdulkadir Kocak, Muslum Yildiz
The disruption of aspartoacylase enzyme's catalytic activity causes fatal neurodegenerative Canavan disease. By molecular dynamics and docking methods, here we studied two deleterious mutations that have been identified in the Canavan patients' genotype E285A, F295S, and revealed the possible cause for the enzyme inhibition due to the drastic changes in active site dynamics, loss of interactions among Arg 71, Arg 168 and the substrate and pKa value of critical Glu178 residue. In addition to changes in the enzyme dynamics, free energy calculations show that the binding energy of substrate decreases dramatically up on mutations...
March 19, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28194442/redirecting-n-acetylaspartate-metabolism-in-the-central-nervous-system-normalizes-myelination-and-rescues-canavan-disease
#16
Dominic J Gessler, Danning Li, Hongxia Xu, Qin Su, Julio Sanmiguel, Serafettin Tuncer, Constance Moore, Jean King, Reuben Matalon, Guangping Gao
Canavan disease (CD) is a debilitating and lethal leukodystrophy caused by mutations in the aspartoacylase (ASPA) gene and the resulting defect in N-acetylaspartate (NAA) metabolism in the CNS and peripheral tissues. Recombinant adeno-associated virus (rAAV) has the ability to cross the blood-brain barrier and widely transduce the CNS. We developed a rAAV-based and optimized gene replacement therapy, which achieves early, complete, and sustained rescue of the lethal disease phenotype in CD mice. Our treatment results in a super-mouse phenotype, increasing motor performance of treated CD mice beyond that of WT control mice...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28130616/investigation-of-the-motor-system-in-two-siblings-with-canavan-s-disease-a-combined-transcranial-magnetic-stimulation-tms-diffusion-tensor-imaging-dti-study
#17
V K Kimiskidis, Vasileios Papaliagkas, S Papagiannopoulos, D Zafeiriou, D Kazis, E Tsatsali-Foroglou, Z Kouvatsou, V Kapina, D Koutsonikolas, G Anogianakis, T Geroukis, S Bostantjopoulou
Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development. We present the cases of two non-Jewish sisters with CD that have a milder and protracted clinical course compared to typical CD. MRI imaging revealed bilateral high-signal-intensity areas in the thalami and the internal capsule and MR spectroscopy showed typical findings for CD (a marked increase in N-acetylaspartate (NAA) levels)...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28125559/o-011-low-dose-il-2-administration-expands-human-regulatory-t-cells-in-patients-with-uc-and-humanized-mice-and-protects-against-experimental-colitis
#18
Jeremy Goettel, Daniel Kotlarz, David Illig, James Canavan, Jessica Allegretti, Matthew Hamilton, Ryan Kelly, Alexandra Griffith, Madeline Carellas, Anastasia Nelina, Athos Bousvaros, Joshua Korzenik, Scott Snapper
BACKGROUND: Treg dysfunction or deficiency results in unopposed immune activation and autoimmunity. Interleukin-2 (IL-2) is critical for the expansion, suppressive function, and maintenance of Tregs. Although conventional T cells and NK cells respond to IL-2, Tregs are more sensitive to lower concentrations of IL-2 due to constitutive expression of CD25, the high affinity IL-2 receptor. Low-dose IL-2 therapies have shown to preferentially expand Tregs and ameliorate manifestations of graft versus host disease (Koreth et al...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28125551/o-003-the-brain-as-extraintestinal-ibd-manifestation-are-brain-and-cognitive-differences-in-pediatric-crohn-s-disease-associated-with-immune-gene-expression
#19
Christine Mrakotsky, Dunn W Augustine, Christopher Watson, James Canavan, Michael Rivkin, Scott Snapper
BACKGROUND: Structural brain changes in gray and white matter have been previously found in adults with Crohn's disease (CD). We have recently shown similar effects for pediatric CD in 2 separate studies (Mrakotsky et al., 2012, 2013, 2015), particularly for cortical and subcortical brain regions important for cognition, memory and emotion. Our prior data also revealed serum markers of inflammation and steroid therapy to be negatively associated with cortical thickness, subcortical volume, cognitive and school function, however, associations between brain structure and more detailed inflammatory profiles have not been studied...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28101991/clinically-distinct-phenotypes-of-canavan-disease-correlate-with-residual-aspartoacylase-enzyme-activity
#20
Marisa I Mendes, Desirée Ec Smith, Ana Pop, Pascal Lennertz, Matilde R Fernandez Ojeda, Warsha A Kanhai, Silvy Jm van Dooren, Yair Anikster, Ivo Barić, Caroline Boelen, Jaime Campistol, Lonneke de Boer, Ariana Kariminejad, Hulya Kayserili, Agathe Roubertie, Krijn T Verbruggen, Christine Vianey-Saban, Monique Williams, Gajja S Salomons
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 cells. Enzyme activity was determined by incubating cell lysates with NAA and measuring the released aspartic acid by LC-MS/MS...
May 2017: Human Mutation
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