Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q, A197S, I203K, and L214P, were identified, whereby I203K was based on a dinucleotide exchange and R184Q appeared to be dominant. The GJB2 variants found in Ghana tend to comprise less nonsense and frameshift mutations and more mutations located in the C-terminal half of the molecule than the variants found in other parts of the world.
Two cases of appendicovesical fistula are reported. One case was caused by Crohn's disease, the second case by a chronical appendicitis. The guiding symptoms in both cases were coprosuria and pneumaturia, with chronical infection of the urinary tract. No diagnostic imaging method was able to detect the fistula. The correct diagnosis was finally made by laparoscopy followed by laparoscopical appendicectomy and fistula closure. The clinical symptoms alone seem to be sufficient for indication to operate. Thus, an early laparoscopic operation significantly can shorten the length of disease.
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