Search results for "Rare Disease"
showing 4 items of 154 documents
Hydatid cyst in the vastus lateralis muscle: a case report
2017
Hydatidosis is a zoonotic disease; human infection occurs through the consumption of food and water contaminated with the eggs of parasites of the Echinococcus type. While the liver is the most common site of infection, involvement of the musculoskeletal system is extremely rare. In the context of musculoskeletal involvement, the spine is the most commonly infected site, while the muscles are rarely infected and account for approximately <1% of cases. It has been suggested that muscles provide an unsuitable environment for the parasite, because of the presence of lactic acid. The cysts appear as slow-growing masses of soft tissue, and signs of inflammation and fistulization often coexist. W…
Interdisciplinary management of peripheral arteriovenous malformations: review of the literature and current proceedings.
2021
Arteriovenous malformations (AVMs) are a rare congenital vascular disorder. They represent a fast-flow vascular malformation. Clinically, AVMs present a heterogenous expression and can affect every part of the body. Here, we will solely focus on extracranial AVMs. Generally, AVMs progress with the patient's age. Patients often suffer from pulsation, skin discoloration, pain, ulceration, bleeding, and disfigurement. Diagnostic tools include color-coded duplex sonography, MRI and CT imaging, as well as the clinical examination. 4D dynamic perfusion-computed tomography may help in the interventional planning. Digital subtraction angiography is required during interventional therapy. AVMs pose …
Telomeropathies: rare disease syndromes
2018
Telomeres are located at the end of the chromosomes. They protect chromosomes from fusion and degradation. Every cell division causes a shortening of the telomeres. A special enzymatic complex called telomerase is responsible for maintaining telomere length in intensively dividing cells, such as epithelial cells and bone marrow cells. The enzymatic complex includes the TERT subunit, which has reverse transcriptase activity, and the TERC subunit, which acts as a template. Other important components of telomerase are the proteins that are responsible for structural stability. Telomerase remains active only in the dividing cells of the body. The rate of telomere shortening depends on many fact…
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
2022
Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) y…