Biomedical subjects
Publications and source records attributed to G Routier.
Some rare observations with the diagnosis of Still's disease in adults reveal a different diagnosis: a paraneoplasic syndrome related to a non differentiated bronchitic carcinoma. The term "paraneoplasic pseudo Still's disease" can be considered. However we have to add a syndrome of intestinal dysfunction with characteristics of pseudoblockage with an imprecise mechanism.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.
100 patients, from three internal medicine departments, were the subject of a retrospective study concerning the clinical manifestations and the evolution of Horton's disease. The mean age is 71 years, with a 2/1 female predominance. A temporal artery biopsy was obtained in all cases. Besides the prevalence of clinical symptoms (headaches: 80 p. cent; weight loss: 78 p. cent; fever: 65 p. cent; local inflammation: 52 p. cent, frequent pseudo-polyarthritis: 40 p. cent and sometimes severe ocular localizations (11 p. cent blindness), other signs should be emphasized: muscular pain (49%), skin hyperesthesias (37%), painful jaw (33%), etc. The inflammatory syndrome dominates the biological picture (96%); the alkaline phosphatases are increased in 37 p. cent of cases. Temporal artery biopsy was positive in 82 p. cent of cases, which confirms the excellent sensitivity of this test, preceded by a Doppler study in only 28 cases. Extension of the inflammatory process to the large vessels was demonstrated 8 times, on clinical data. Finally, the mean length of the steroid treatment was two years with 14 relapses and 8 deaths.
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Idiopathic arteriovenous fistulae in the renal peduncle are rare. A case was discovered during clinical examination, and was confirmed by total and selective arteriography. A vertebral and dise infection of L3-L4 was also present and blood cultures were positive for enterococcus. This fistula had a high blood-flow rate but it has to be stressed that it was well-tolerated by the cardiovascular system. It was also exceptional in that conservative therapy was possible in this case, which is the eighth reported up to the present time.
Three cases of granulomatous nephropathy are reported. In two patients this was definitely related to a true renal sarcoidosis, while the third case raised the problem of the significance of an "isolated sarcoidosis nodule". The authors discuss the frequency, clinical symptoms, and pathological appearances of these renal lesions which reveal the presence of sarcoidosis, as well as the relationship between renal insufficiency and the parenchymatous lesions observed, and therapy.
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