Vohwinkel syndrome
A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles. The sensorineural hearing is mild-to-moderate in degree. The thickening of the skin (hyperkeratosis) can be “mutilating” and cause autoamputation of the digits. The syndrome is inherited in an autosomal dominant manner. It is caused by mutation in the GJB2 gene (connexin 26). The mutation is the replacement of aspartic acid with histidine at position 66 in the protein’s chain of amino acids. This mutation is also written as Asp66His.
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The voice box, or larynx, is the portion of the respiratory (breathing) tract containing the vocal cords which produce sound. It is located between the pharynx and the trachea. The larynx, also called the voice box, is a 2-inch-long, tube-shaped organ in the neck. We use the larynx when we breathe, talk, or swallow. Its […]
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Voice disorder is characterized by the abnormal production and/or absences of vocal quality, pitch, loudness, resonance, and/or duration, which is inappropriate for an individual’s age and/or sex.
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To urinate. The term void is also sometimes used to indicate the elimination of solid waste (defecation).
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A test done to examine the bladder and urethra while the bladder fills and empties. A radiopaque liquid (that can be seen on x-ray) is placed in the bladder through a catheter. The bladder is filled until the patient urinates. Radiographs (x-rays) are usually taken before, during, and after voiding. This test can reveal abnormalities […]
- Voiding cystourethrography
A procedure done to examine the bladder and urethra while the bladder fills and empties. A radiopaque liquid (that can be seen on x-ray) is placed in the bladder through a catheter. The bladder is filled until the patient urinates. Radiographs (x-rays) are usually taken before, during, and after voiding. This test can reveal abnormalities […]