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Canavan disease

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https://www.readbyqxmd.com/read/28657261/rare-case-of-non-tuberculous-mycobacterium-a-diagnostic-dilemma
#1
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
#2
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
#3
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
#4
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
#5
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...
April 28, 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28077719/suppressing-n-acetyl-l-aspartate-synthesis-prevents-loss-of-neurons-in-a-murine-model-of-canavan-leukodystrophy
#13
Jiho Sohn, Peter Bannerman, Fuzheng Guo, Travis Burns, Laird Miers, Christopher Croteau, Naveen K Singhal, Jennifer A McDonough, David Pleasure
Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficiency. The lack of functional ASPA, an enzyme enriched in oligodendroglia that cleaves N-acetyl-l-aspartate (NAA) to acetate and l-aspartic acid, elevates brain NAA and causes "spongiform" vacuolation of superficial brain white matter and neighboring gray matter. In children with Canavan disease, neuroimaging shows early-onset dysmyelination and progressive brain atrophy. Neuron loss has been documented at autopsy in some cases. Prior studies have shown that mice homozygous for the Aspa nonsense mutation Nur7 also develop brain vacuolation...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28007430/design-and-optimization-of-aspartate-n-acetyltransferase-inhibitors-for-the-potential-treatment-of-canavan-disease
#14
Bharani Thangavelu, Vinay Mutthamsetty, Qinzhe Wang, Ronald E Viola
Canavan disease is a fatal neurological disorder caused by defects in the metabolism of N-acetyl-l-aspartate (NAA). Recent work has shown that the devastating symptoms of this disorder are correlated with the elevated levels of NAA observed in these patients, caused as a consequence of the inability of mutated forms of aspartoacylase to adequately catalyze its breakdown. The membrane-associated enzyme responsible for the synthesis of NAA, aspartate N-acetyltransferase (ANAT), has recently been purified and examined (Wang et al...
February 1, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/27927234/cytotoxic-edema-and-diffusion-restriction-as-an-early-pathoradiologic-marker-in-canavan-disease-case-report-and-review-of-the-literature
#15
Steven T Merrill, Gary R Nelson, Nicola Longo, Joshua L Bonkowsky
BACKGROUND: Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. RESULTS: We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indicative of an acute active destructive process. We performed a comprehensive review of published cases of Canavan disease reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan disease...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27913587/suppressing-n-acetyl-l-aspartate-naa-synthesis-prevents-loss-of-neurons-in-a-murine-model-of-canavan-leukodystrophy
#16
Jiho Sohn, Peter Bannerman, Fuzheng Guo, Travis Burns, Laird Miers, Christopher Croteau, Naveen K Singhal, Jennifer A McDonough, David Pleasure
Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficiency. The lack of functional ASPA, an enzyme enriched in oligodendroglia that cleaves N-acetyl-L-aspartate (NAA) to acetate and L-aspartic acid, elevates brain NAA and causes "spongiform" vacuolation of superficial brain white matter and neighboring gray matter. In children with Canavan disease, neuroimaging shows early-onset dysmyelination and progressive brain atrophy. Neuron loss has been documented at autopsy in some cases. Prior studies have shown that mice homozygous for the Aspa nonsense mutation Nur7 also develop brain vacuolation...
December 2, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27851785/implementation-of-patient-centered-education-for-chronic-disease-management-in-uganda-an-effectiveness-study
#17
Trishul Siddharthan, Tracy Rabin, Maureen E Canavan, Faith Nassali, Phillip Kirchhoff, Robert Kalyesubula, Steven Coca, Asghar Rastegar, Felix Knauf
BACKGROUND: The majority of non-communicable disease related deaths occur in low- and middle-income countries. Patient-centered care is an essential component of chronic disease management in high income settings. OBJECTIVE: To examine feasibility of implementation of a validated patient-centered education tool among patients with heart failure in Uganda. DESIGN: Mixed-methods, prospective cohort. SETTINGS: A private and public cardiology clinic in Mulago National Referral and Teaching Hospital, Kampala, Uganda...
2016: PloS One
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#18
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27717881/n-acetylaspartate-supports-the-energetic-demands-of-developmental-myelination-via-oligodendroglial-aspartoacylase
#19
Jeremy S Francis, Ireneusz Wojtas, Vladimir Markov, Steven J Gray, Thomas J McCown, R Jude Samulski, Larissa T Bilaniuk, Dah-Jyuu Wang, Darryl C De Vivo, Christopher G Janson, Paola Leone
Breakdown of neuro-glial N-acetyl-aspartate (NAA) metabolism results in the failure of developmental myelination, manifest in the congenital pediatric leukodystrophy Canavan disease caused by mutations to the sole NAA catabolizing enzyme aspartoacylase. Canavan disease is a major point of focus for efforts to define NAA function, with available evidence suggesting NAA serves as an acetyl donor for fatty acid synthesis during myelination. Elevated NAA is a diagnostic hallmark of Canavan disease, which contrasts with a broad spectrum of alternative neurodegenerative contexts in which levels of NAA are inversely proportional to pathological progression...
December 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27658649/ethiopia-s-health-extension-workers-use-of-work-time-on-duty-time-and-motion-study
#20
Hibret Tilahun, Binyam Fekadu, Habtamu Abdisa, Maureen Canavan, Erika Linnander, Elizabeth H Bradley, Peter Berman
Ethiopia implemented an innovative community-based health program, called the health extension program, to enhance access to basic health promotion, disease prevention and selected curative services by establishing health posts in every village, also called kebeles, with average of 5000 people, staffed with two health extension workers (HEWs). This time and motion study was done to estimate the amount of time that HEWs spend on various work duties and to explore differences in urban compared with rural settings and among regions...
April 1, 2017: Health Policy and Planning
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