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Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney. It is one cause of Fanconi syndrome , and is characterized by tubular proteinuria , excess calcium in the urine , formation of calcium kidney stones , nephrocalcinosis , and chronic kidney failure .
If the syndesmosis is torn apart as result of bone fracture, surgeons will sometimes fix the relevant bones together with a syndesmotic screw, temporarily replacing the syndesmosis, or with a tightrope fixation, which is called syndesmosis procedure. [9] [10] The screw inhibits normal movement of the bones and, thereby, the corresponding joint ...
Bedside ultrasound may also be utilized. The absence of radiographic evidence early on in the course of disease does not exclude alveolar disease. Alveolar disease is visible on chest radiography as small, ill-defined nodules of homogeneous density centered on the acini or bronchioles. The nodules coalesce early in the course of disease, such ...
Infants with LAL deficiencies typically show signs of disease in the first weeks of life and if untreated, die within 6–12 months due to multi-organ failure. [2] Older children or adults with LAL-D may remain undiagnosed or be misdiagnosed until they die early from a heart attack or stroke or die suddenly of liver failure. [ 2 ]
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
The study tested a total of 184 patients with autoimmune pulmonary alveolar proteinosis (aPAP), a disease that can cause shortness of breath, scarring in the lungs and even lead to a need for a ...
Symptoms may include: Dull, aching, throbbing pain in the area of the socket, which is moderate to severe and may radiate to other parts of the head such as the ear, eye, temple and neck. [ 2 ] [ 5 ] [ 7 ] [ 8 ] The pain normally starts on the second to fourth day after the extraction, [ 5 ] [ 8 ] and may last 10–40 days. [ 1 ]
Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3 ] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).