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Cardiac involvement in Danon disease typically manifests as left ventricular hypertrophy (LVH) and ventricular preexcitation. This study aimed to identify patients with Danon disease among patients with LVH and concurrent electrocardiographic preexcitation.
This article was published in the following journal.
Name: Molecular genetics & genomic medicine
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 t...
Sacroiliitis, an inflammatory arthropathy associated with ankylosing spondylitis (AS), is found in patients with inflammatory bowel disease (IBD) but may go undiagnosed. The aims of this study were to...
According to fluorescent in situ hybridization, t(11;14) is the most common cytogenetic abnormality in amyloid light-chain (AL) amyloidosis, but its prevalence in patients with AL amyloidosis and conc...
Esophagogastroduodenoscopy (EGD) is frequently used to evaluate gastroesophageal reflux disease (GERD) without alarm symptoms, although the benefits are not clear. We aimed determine the prevalence of...
To evaluate the prevalence and clinical features of Fabry disease in patients with end-stage renal disease (ESRD) undergoing chronic hemodialysis.
This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lyso...
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene....
Gastroesophageal reflux disease (GERD) is involved in the development of esophageal motility disorders like Jackhammer esophagus (JE), a novel hypercontractile condition that was associate...
The purpose of this study is to collect valid data from all forms of health care on the incidence, prevalence, the regional distribution, characteristics, management and outcomes of differ...
The purpose of this study is to Understand the prevalence of non-tuberculous mycobacterial(NTM) infections in the middle-aged and old women patients with bronchiectasis in Mainland China, ...
Clinical characteristics of disease or illness.
The constant presence of diseases or infectious agents within a given geographic area or population group. It may also refer to the usual prevalence of a given disease with such area or group. It includes holoendemic and hyperendemic diseases. A holoendemic disease is one for which a high prevalent level of infection begins early in life and affects most of the child population, leading to a state of equilibrium such that the adult population shows evidence of the disease much less commonly than do children (malaria in many communities is a holoendemic disease). A hyperendemic disease is one that is constantly present at a high incidence and/or prevalence rate and affects all groups equally. (Last, A Dictionary of Epidemiology, 3d ed, p53, 78, 80)
The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance.
Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.
A selective, irreversible inhibitor of Type B monoamine oxidase. It is used in newly diagnosed patients with Parkinson's disease. It may slow progression of the clinical disease and delay the requirement for levodopa therapy. It also may be given with levodopa upon onset of disability. (From AMA Drug Evaluations Annual, 1994, p385) The compound without isomeric designation is Deprenyl.