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Biomedical subjects

S Durupt

Publications and source records attributed to S Durupt.

At least 19 recordsLinked to original sources
PubMed2004

[Haemochromatosis screening in 120 patients complaining with persistant fatigue].

AIM: Chronic fatigue is the more frequent symptom identified in the course of hereditary haemochromatosis. A screening for this disorder was carried out in 120 primary care patients consulting for unexplained chronic fatigue. SUBJECTS AND METHODS: Transferrin saturation and serum ferritin were determined in all patients. If transferrin saturation was >or= 45% and serum ferritin >or= 300 microg/l, HFE1 genotyping for mutations C282Y and H63D was completed. RESULTS: One hundred and twenty patients were recruited, 19-86 years old, including 62 males and 58 females. 45 patients (38%) presented with serum ferritin >or= 300 microg/l. Thirty two patients (27%) presented with transferrin saturation >or= 45%. Twenty two patients (18%) presented with these two pathological values. Four C282Y/H63D compound heterozygous, one H63D/H63D homozygous, and eight simplex heterozygous (6 H63D and 2 C282Y) genotypes were found. Patients with serum ferritin >or= 300 microg/l were predominantly male (89%), older (57 year) and plethoric (BMI: 26.4) corresponding mainly to dysmetabolic hyperferritinemia. CONCLUSION: None of these 120 patients consulting for unexplained chronic fatigue was found with hereditary haemochromatosis. Therefore observed prevalence is 0, with upper limit of 95% confidence interval at 2.5%. But the high prevalence (38%) of serum ferritin >or= 300 microg/l must be emphasized, corresponding usually to dysmetabolic hyperferritinemia.

Adult↗
PubMed2000

[Hereditary hemochromatosis].

INTRODUCTION: Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. CURRENT KNOWLEDGE AND KEY POINTS: In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. FUTURE PROSPECTS AND PROJECTS: The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmotabolic hepatosiderosis. Casos of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available.

Amino Acid Substitution↗
PubMed1999

[Hypokalemic quadriplegia with distal tubular acidosis revealing a a case of primary Gougerot-Sjögren syndrome].

BACKGROUND: Primary Sjögren's syndrome is associated in 6 to 25% of cases with kidney involvement Most often it is a chronic interstitial nephritis, generally asymptomatic but sometimes responsible for distal tubular acidosis which can be complicated by severe hypokalemia. CASE REPORT: A 48-year-old woman had hypokalemic quadriplegia, distal renal tubular acidosis and chronic interstitial nephritis at kidney biopsy. Primary Sjögren's syndrome was diagnosed. DISCUSSION: We discuss briefly the clinical, biological and immunological features of 18 similar cases reported in the literature.

Acidosis, Renal Tubular↗
PubMed1999

Sclerosing cholangitis in adults with cystic fibrosis: a magnetic resonance cholangiographic prospective study.

BACKGROUND/AIMS: Liver disease is a leading cause of morbidity in adult patients with cystic fibrosis. Diagnosis of limited liver involvement in asymptomatic patients is important since a safe and effective treatment with ursodeoxycholic acid can be used. We carried out a prospective open study to describe the intrahepatic biliary lesions using magnetic resonance cholangiography. METHODS: Twenty-seven adult patients with cystic fibrosis were prospectively enrolled, whatever their hepatobiliary status. All patients underwent liver function tests, ultrasonography and magnetic resonance cholangiography. Magnetic resonance cholangiograms were acquired on a Philips 1.5 Tesla unit using a 3D TSE MR sequence. Acquisition parameters (120 slices, 1.6 mm thickness, interslice overlap 0.8 mm) were followed by MIP reconstruction in two orthogonal planes. Magnetic resonance cholangiography images were assessed for the presence of stenosis, dilatations and rigidity corresponding to current criteria of cholangitis. Among the 27 cystic fibrosis patients, 18 (Group I) fulfilled none of the clinical, biological or ultrasonographic criteria of liver disease; the remaining nine (Group II) fulfilled the criteria for liver disease. In every patient, current causes of secondary sclerosing cholangitis had been excluded. RESULTS: All the Group II patients had abnormal magnetic resonance cholangiograms with features resembling those of primary sclerosing cholangitis in five, and simple biliary lesions in four. Nine Group I patients had abnormal magnetic resonance cholangiograms with primary sclerosing cholangitis-like lesions in five and simple biliary lesions in four. Magnetic resonance cholangiography anomalies were always dilatations, either isolated or associated with strictures and rigidity, both resembling those seen in cholangitis. They were seen in all the patients with known liver disease and in half the patients without evidence of liver disease. CONCLUSION: This study confirms the high frequency of intrahepatic biliary abnormalities in CF patients, which is probably underestimated by clinical, biological and ultrasonographic evaluation. The magnetic resonance cholangiography technique could be useful to detect early intrahepatic biliary tract involvement in cystic fibrosis patients.

Adult↗
PubMed1998

[Propionibacterium acnes infectious endocarditis].

BACKGROUND: Propionibacterium acnes, a Gram positive microaerophilic bacteria is considered to have a low level of virulence. Nevertheless, it can be associated with infective endocarditis. We report 2 cases and a review of the literature. CASE REPORTS: The first man developed an acute prosthetic valve infective endocarditis and died. The second case was also a prosthetic valve infective endocarditis in a patient who developed infectious spondylitis. DISCUSSION: P. acnes is an uncommon causal agent in infective endocarditis and appears to have a predilectio for prosthetic valves. A prior history of skin infection is rare. P. acnes grow quite slowly, often requiring 7 to 14 days for identification. All isolates of P. acnes from blood or valve do not necessarily mean contamination.

Discitis↗
PubMed1998

[Importance of antiproteases in the treatment of microsporidia and/or cryptosporidia infections in HIV-seropositive patients].

Diarrhea due to infection with Microsporidium (M) or Cryptosporidium (C) raises significant therapeutic challenges in HIV-infected patients. The usefulness of protease inhibitor therapy was evaluated in 20 HIV-positive patients with positive tests for M and/or C. There were 17 men and three women with a mean age of 42.5 years (range, 26-64 years). Two patients had category B disease and 18 category C disease according to the 1993 CDC classification scheme (CD4 count before therapy, 72/mm3; mean viral burden, 4.6 log). Seventeen patients had chronic diarrhea (due to M in 12 cases and to C in five), and the remaining three patients were asymptomatic M carriers. Clinical symptoms resolved after addition to the antiretroviral regimen of indinavir (n = 17) or saquinavir (n = 3). Mean weight gain was 10.5 kg. Karnofsky's index improved. Twelve patients, including one of the three who were asymptomatic at baseline, had negative follow-up stool cultures. The mean CD4 count increase was 125/mm3, and the mean viral burden decrease was 1.285 log. These data suggest that protease inhibitors may be capable of eradicating M and/or C infection refractory to other treatments. The reason for this effect may involve partial restoration of immune function due to inhibition of HIV replication.

AIDS-Related Opportunistic Infections↗
PubMed1997

[Favorable course of hepatitis B virus reactivation with hepatocellular insufficiency by a treatment combining corticoids, foscarnet and ganciclovir].

Reactivation of hepatitis B virus replication is a rare event during the natural history of chronic hepatitis B. However, the clinical presentation may be severe and an effective therapeutic protocol must be established. We report a case of spontaneous reactivation of hepatitis B virus infection with liver failure. For the moment, no medical treatment has been defined in this situation. A combination of corticosteroids and antiviral drugs (foscarnet and ganciclovir) resulted in clinical and biological recovery, and HBV elimination. If the efficacy of this combined treatment is confirmed in a larger population, this new physiopathological approach should be considered whenever life threatening liver failure occurs.

Adult↗