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Canavan disease

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https://www.readbyqxmd.com/read/29887684/b-l-basal-ganglia-lesions-in-a-child-leading-to-a-diagnosis-of-glucose-6-phosphate-dehydrogenase-deficiency
#1
Nidhi Prabhakar, Chirag K Ahuja, Niranjan Khandelwal
Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1...
April 2018: Annals of Neurosciences
https://www.readbyqxmd.com/read/29795570/insights-into-the-genetic-epidemiology-of-crohn-s-and-rare-diseases-in-the-ashkenazi-jewish-population
#2
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0...
May 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29764103/unit-costing-of-health-extension-worker-activities-in-ethiopia-a-model-for-managers-at-the-district-and-health-facility-level
#3
Maureen E Canavan, Erika Linnander, Shirin Ahmed, Halima Mohammed, Elizabeth H Bradley
BACKGROUND: Over the last decade, Ethiopia has made impressive national improvements in health outcomes, including reductions in maternal, neonatal, infant, and child mortality attributed in large part to their Health Extension Program (HEP). As this program continues to evolve and improve, understanding the unit cost of health extension worker (HEW) services is fundamental to planning for future growth and ensuring adequate financial support to deliver effective primary care throughout the country...
September 2, 2017: International Journal of Health Policy and Management
https://www.readbyqxmd.com/read/29489833/immune-checkpoint-inhibitor-pd-1-pathway-is-down-regulated-in-synovium-at-various-stages-of-rheumatoid-arthritis-disease-progression
#4
Yanxia Guo, Alice M Walsh, Mary Canavan, Mihir D Wechalekar, Suzanne Cole, Xuefeng Yin, Brittney Scott, Mathew Loza, Carl Orr, Trudy McGarry, Michele Bombardieri, Frances Humby, Susanna M Proudman, Costantino Pitzalis, Malcolm D Smith, Joshua R Friedman, Ian Anderson, Loui Madakamutil, Douglas J Veale, Ursula Fearon, Sunil Nagpal
Immune checkpoint blockade with therapeutic anti-cytotoxic T lymphocyte-associated antigen (CTLA)-4 (Ipilimumab) and anti-programmed death (PD)-1 (Nivolumab and Pembrolizumab) antibodies alone or in combination has shown remarkable efficacy in multiple cancer types, concomitant with immune-related adverse events, including arthralgia and inflammatory arthritis (IA) in some patients. Herein, using Nivolumab (anti-PD-1 antagonist)-responsive genes along with transcriptomics of synovial tissue from multiple stages of rheumatoid arthritis (RA) disease progression, we have interrogated the activity status of PD-1 pathway during RA development...
2018: PloS One
https://www.readbyqxmd.com/read/29456021/brain-nat8l-knockdown-suppresses-spongiform-leukodystrophy-in-an-aspartoacylase-deficient-canavan-disease-mouse-model
#5
Peter Bannerman, Fuzheng Guo, Olga Chechneva, Travis Burns, Xiaoqing Zhu, Yan Wang, Bokyung Kim, Naveen K Singhal, Jennifer A McDonough, David Pleasure
Canavan disease, a leukodystrophy caused by loss-of-function ASPA mutations, is characterized by brain dysmyelination, vacuolation, and astrogliosis ("spongiform leukodystrophy"). ASPA encodes aspartoacylase, an oligodendroglial enzyme that cleaves the abundant brain amino acid N-acetyl-L-aspartate (NAA) to L-aspartate and acetate. Aspartoacylase deficiency results in a 50% or greater elevation in brain NAA concentration ([NAAB ]). Prior studies showed that homozygous constitutive knockout of Nat8l, the gene encoding the neuronal NAA synthesizing enzyme N-acetyltransferase 8-like, prevents aspartoacylase-deficient mice from developing spongiform leukodystrophy...
March 7, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29401083/molecular-comparison-of-adult-and-pediatric-ulcerative-colitis-indicates-broad-similarity-of-molecular-pathways-in-disease-tissue
#6
Katherine Li, Richard Strauss, Jodie Ouahed, Daphne Chan, Shannon E Telesco, Dror S Shouval, James B Canavan, Carrie Brodmerkel, Scott B Snapper, Joshua R Friedman
BACKGROUND: Efficacy data from adult ulcerative colitis (UC) clinical trials are often extrapolated for pediatric prescribing. Consequently, it is important to understand similarities/differences in pediatric and adult UC. Pediatric UC tends to have more extensive disease at presentation, yet genetic studies have not detected pathways that distinguish the populations, and differences in mucosal gene expression between adult and pediatric UC are not well characterized. METHODS: Using colonic microarray data from a phase 3 trial of golimumab in adult UC (87 UC; 21 healthy), the GSE10616 pediatric dataset (10 UC; 11 healthy), and a phase 1B trial of golimumab in pediatric UC (n = 19), UC expression profiles were compared and unique genes were defined as those with significant changes (|FC|>2x, adjusted p < 0...
February 3, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29170500/white-matter-disease-targeted-aspartoacylase-gene-therapy-reverts-canavan-disease
#7
Shimona Starling
No abstract text is available yet for this article.
January 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29139195/phenotypic-characteristics-associated-with-slow-gait-speed-in-idiopathic-pulmonary-fibrosis
#8
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...
May 2018: 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
#9
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...
January 2018: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#10
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...
January 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29057463/alk-positive-primary-cutaneous-anaplastic-large-cell-lymphoma-a-case-report-and-review-of-the-literature
#11
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...
May 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29044366/sustainable-food-systems-for-optimal-planetary-health
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
June 2017: Photodiagnosis and Photodynamic Therapy
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