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Unbound Medicine.
(Danon disease)
433 results
  • Upper respiratory tract colonization with Streptococcus pneumoniae in adults. [Journal Article]
    Expert Rev Vaccines. 2020 Apr; 19(4):353-366.Arguedas A, Trzciński K, … Gessner BD
  • Most of the current evidence regarding pneumococcal upper respiratory colonization in adults suggests that despite high disease burden, carriage prevalence is low. Contemporary studies on adult pneumococcal colonization have largely followed the pediatric approach by which samples are obtained mostly from the nasopharynx and bacterial detection is evaluated by routine culture alone. Recent eviden…
  • GeneReviews®: Danon Disease [BOOK]
    . University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya ATaylor MRG, Adler EDBOOK
  • Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive and often requires heart transplantation. Rarely, hypertrophic cardiomyopathy can evolve…
  • Thrombotic microangiopathy following heart transplant in pediatric Danon disease. [Case Reports]
    Pediatr Transplant. 2020 Jun; 24(4):e13669.Hummel K, Glotzbach K, … Lal AK
  • This case describes an uncommon acute complication of diffuse thrombotic angiopathy and associated aHUS/TTP in an 11-year-old girl with Danon disease who underwent orthotopic heart transplant. Shortly after transplant, despite an uncomplicated operative course, the patient developed severe kidney injury and progressive altered mental status, culminating in cerebral edema, brain herniation, and de…
  • Lysosomal Abnormalities in Cardiovascular Disease. [Review]
    Int J Mol Sci. 2020 Jan 27; 21(3)Chi C, Riching AS, Song K
  • The lysosome, a key organelle for cellular clearance, is associated with a wide variety of pathological conditions in humans. Lysosome function and its related pathways are particularly important for maintaining the health of the cardiovascular system. In this review, we highlighted studies that have improved our understanding of the connection between lysosome function and cardiovascular disease…
  • Flying, phones and flu: Anonymized call records suggest that Keflavik International Airport introduced pandemic H1N1 into Iceland in 2009. [Journal Article]
    Influenza Other Respir Viruses. 2020 01; 14(1):37-45.Kishore N, Mitchell R, … Vigfusson Y
  • CONCLUSIONS: Exposure to Keflavik International Airport increased the risk of incident ILI diagnoses during the initial stages of the epidemic. Using these methods for other regions of Iceland, we evaluated the geographic spread of ILI over the course of the epidemic. Our methods were validated through similar evaluation of a domestic airport. The techniques described in this study can be used for hypothesis-driven evaluations of locations and behaviours during an epidemic and their associations with health outcomes.
  • Review: Danon disease: Review of natural history and recent advances. [Review]
    Neuropathol Appl Neurobiol. 2019 Nov 07 [Online ahead of print]Cenacchi G, Papa V, … Angelini C
  • Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an X-linked dominant trait. The primary deficiency of lysosome-associated membrane protein-2 (LAMP-2) causes disruption o…
  • Left ventricular assist device implantation in an adult male with Danon disease. [Case Reports]
    J Cardiol Cases. 2019 Sep; 20(3):106-109.Kuroda K, Seguchi O, … Fukushima N
  • Danon disease is an extremely rare inherited disorder characterized by cardiac involvement, myopathy, and intellectual disability. As patients with Danon disease die at an early age, mainly as a result of cardiac involvement, implantation of a left ventricular assist device (LVAD) and/or heart transplantation are essential options. However, various comorbidities associated with Danon disease shou…
  • StatPearls: Danon Disease [BOOK]
    . StatPearls Publishing: Treasure Island (FL) D'Souza Ryan S. RS Mayo Clinic Law Luke L BOOK
  • Danon disease is a rare X-linked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability.[1] It is caused by genetic mutations in the lysosome-associated membrane 2 (LAMP2) gene, with most mutations leading to an absence of LAMP2 protein.[2] Most published data on this disease is abstracted from case reports, limited obser…
  • Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. [Journal Article]
    Exp Ther Med. 2019 Sep; 18(3):1527-1532.Guo S, Zhou L, … Liu T
  • The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an…
  • Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation. [Review]
    Anaesthesiol Intensive Ther. 2019; 51(2):133-146.Staikou C, Stamelos M, Stavroulakis E
  • Pre-excitation is associated with life-threatening arrhythmias. Apart from the well-known Wolff-Parkinson-White syndrome, a number of rare diseases are associated with pre-excitation due to the existence of accessory pathways. The present review aims to focus on anaesthesia and perioperative care of patients with rare genetic diseases associated with pre-excitation due to the existence of a bundl…
  • StatPearls: Cardiomyopathy Imaging [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Khalil Hassan H The George Washington University Alzahrani Talal T The George Washington University BOOK
  • Cardiomyopathies are a heterogenic group of diseases of the myocardium, which further classify into primary “confined to the heart, “or secondary “related to systemic disease.” The primary cardiomyopathies are divided into genetic “including hypertrophic, arrhythmogenic right ventricular, left ventricular noncompaction, Danon glycogen storage disease and others”; and acquired “including acute myo…
  • Twenty-five-year-old woman with palpitations and hypertrophic cardiomyopathy. [Journal Article]
    Heart Asia. 2019; 11(1):e011174.Akrawinthawong K, Kumar V
  • A 25-year-old woman with a diagnosis of hypertrophic cardiomyopathy (HCM) and pre-excitation on ECG presented with unexplained syncope and daily palpitation. Genetic testing was positive for lysosome-associated membrane protein 2 (LAMP2) mutation which confirmed the diagnosis of Danon disease. Her younger sister was diagnosed with a similar condition and received a defibrillator implantation. Her…
  • O-GlcNAc Modification Protects against Protein Misfolding and Aggregation in Neurodegenerative Disease. [Journal Article]
    ACS Chem Neurosci. 2019 05 15; 10(5):2209-2221.Ryan P, Xu M, … Rudrawar S
  • Post-translational modifications (PTMs) of proteins are becoming the focus of intense research due to their implications in a broad spectrum of neurodegenerative diseases. Various PTMs have been identified to alter the toxic profiles of proteins which play critical roles in disease etiology. In Alzheimer's disease (AD), dysregulated phosphorylation is reported to promote pathogenic processing of …
  • Heart transplantation in Danon disease: Long term single centre experience and review of the literature. [Journal Article]
    Eur J Med Genet. 2019 Apr 05 [Online ahead of print]Di Nora C, Miani D, … Livi U
  • Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Although heart transplantation is considered an option for end stage Danon cardiomyopathy, scarce information is available about long term follow up. We report on long term follow up (14.7 years, IQ range 9-21 years…
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