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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 .
A syndesmosis is a slightly mobile [4] fibrous joint in which bones such as the tibia and fibula are joined together by connective tissue. An example is the distal tibiofibular joint. Injuries to the ankle syndesmosis are commonly known as a "high ankle sprain".
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
There is a relationship between smoking tobacco and periodontal disease, wound healing and oral cancers. [15] Nicotine, the major pharmacologically active ingredient in tobacco smoke, lessens a host's ability to defend against bacterial invasion induced by plaque. [citation needed] It is also the ingredient responsible for addiction. [16]
Diagnosis of DRPLA rests on positive family history, clinical findings, and genetic testing. Family history can be difficult to obtain if a relative was misdiagnosed, died young, or experiences late onset of symptoms. [citation needed] Other diseases in the differential diagnosis of adult-onset DRPLA include Huntington's and the spinocerebellar ...
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive [2] lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialuria , OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern ...
To complete the diagnosis, the extent of the disease must be assessed. This is defined as: mild (1-2mm), moderate (3-4mm) or severe (≥ 5mm) depending on the amount of attachment loss present. Radiographs such as bitewings, intra-oral periapicals or a panoramic radiograph can be taken to help assess the bone loss and aid in diagnosis.