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Cadet E, Capron D, Perez AS, Crepin SN, Arlot S, Ducroix J-P, Dautreaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJH, Rochette J (Universite Jules Verne de Picardie, Amiens, France; MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK; University of Oxford, Institute of Health Sciences, Oxford, UK; University of Cambridge, Institute of Public Health, Cambridge, UK; Biobanque de Picardie, Amiens, France; and Centre d'examens de sante de la Somme, Amiens, France). A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 2003; 253: 217–224. Objective. To determine the optimal means of identifying patients with undiagnosed haemochromatosis. Design. Case–control study where cases are defined by the presence of specific clinical diagnoses or symptoms. Setting. Primary care patients were recruited from three Oxfordshire practices and secondary care patients were recruited from those patients attending specialist clinics in Amiens University Hospital. Subjects. A total of 569 patients recruited via hospital clinics and 60 primary care patients (recruited from 4022 consultations) presenting with the following haemochromatosis associated conditions, diabetes, arthralgia/chronic fatigue, osteoporosis or arthropathy were studied. The control group, a total of 991 healthy volunteers, were recruited through a Health Appraisal Centre. Patients and controls were included in the study if they or their family members had not previously been diagnosed with hereditary haemochromatosis. Main outcome measures. Serum ferritin concentration, transferrin saturation (Tsat) and presence of HFE mutations, C282Y and H63D. The check-up in controls consisted of a questionnaire, clinical examination, biochemical tests and screening for the presence of the C282Y and H63D mutations. Results. Patient groups presenting with unstable diabetes or chronic fatigue and arthralgia together with a raised serum ferritin concentration showed an enrichment in the haemochromatosis-associated genotype HH/YY, odds ratio (OR) = 40.1, confidence interval (CI) = 8.0–202.1 and OR = 103, CI = 22.9–469.7, respectively. Conclusion. Patients presenting to hospital clinics with haemochromatosis associated conditions should be screened biochemically for iron overload. Only those with a serum ferritin >300 μg L−1 or Tsat >40% should subsequently go on to be genotyped for HFE mutations. The patients at greatest risk of having undiagnosed haemochromatosis are those presenting with unstable diabetes, or fatigue and/or arthralgia in the absence of any other explanation.

Resume Le tubage biliaire intervient dans le diagnostic etiologique des pancreatites aigues lorsque la cause n'est retrouvee ni par l'anamnese, l'examen clinique, les echographies abdominales ou la cholangiographie retrograde. L'etiologie apparait alors liee a la presence de microcristaux biliaires dans 40% des cas. Les microcristaux peuvent etre du monohydrate de cholesterol, du bilirubinate de calcium ou des microspherolithes. Leur seule presence incite a la cholecystectomie pour eviter les recidives de pancreatite aigue.

Resume Le cefuroxime axetil est la premiere cephalosporine orale disposant d'un spectre large et d'une bonne stabilite face aux beta-lactamases. De nombreuses etudes cliniques et bacteriologiques concernant ce produit ont ete realisees ces dernieres annees. Ce travail, en reprenant les principaux resultats de ces essais, permet de souligner l'interet du cefuroxime axetil dans le traitement des infections respiratoires.

We describe through ten cases the interest of counter immuno-electrophoresis with other serological tests in the diagnosis of human brucellosis.

In familial adenomatous polyposis coli (APC) it is possible to detect APC carriers either by research of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) or by genetic diagnosis (APC gene is localized in 5q21). These detections were performed in 33 patients of four families with the same positivity for genetic typing (11 patients) or for CHRPE (11 patients) which thus avoided annual coloscopy.

We report two cases of rare complication of acute pancreatitis: colonic stenosis and ureteral stenosis.

We studied a serial of twelve patients suffering from a renal inflammatory disease or acute bacterial nephritis. We show the advantage of C.T.scan.

It has been recently suggested that histolocical findings of antral gastritis (FG) were associated with Helicobacter pylori infection. The aim of this study was to assess the connection between FG and Helicobacter pylori associated gastritis in a young adult population.

A retrospective study was conducted in 42 patients with uveitis. In 21 % of patients in the present report associated system disease one or more were found. Infectious disease are frequent. Complete investigation are necessary.

Diagnosis of infection caused by Mycoplasma pneumoniae in adult. A study in Amiens. A report of 33 cas by Mycoplasma pneumonia are notified, in particular uncommon presentation : central nervous system complications and community acquired pneumoniae. We report the current status of antibiotic treatment for Mycoplasma pneumoniae infection and evolution with these antibiotic.

Magnetic resonance imaging permits an early diagnosis in vertebral osteomyelitis but puncture of the disc for bacteriological examination remains an indication of the C.T. scan.

The authors report a case of familial hypercalcemia revealed by systematic measurement of calcemia in a patient treated ten years previously for a chest adenocarcinoma. Her mother, her sister and two daughters had hypocalciuric hypercalcemia.

Idiopatic hereditary pancreatitis is a rare form of primary chronic pancreatitis transmitted as an autosomal dominant trait with a variable clinical penetration. We report an additionnal case.

The authors report a case of an isolated hepatitis during a chronic Q fever. Liver biopsy permit the isolation of Coxiella burnetii.

The authors report 2 cases of fluorosis after consumation of huge quantities of Vichy Saint Yorre which contains high fluoride levels.

The early diagnosis of bacterial spondilytis with 111 In oxine-labelled granulocytes must be interesting. We describe four cases with false-negative diagnostic finding.

One case of coeliac disease associated with Hashimoto's disease is presented. The patient had had vague symptoms of illhealth for many years probably due to his coeliac disease but exacerbated by the development of Hashimoto's thyroiditis. Locus HLA B8 DR3 was present.

The authors report a case of familial hypocalciuric hypercalcemia revealed by systematic measurement of calcemia in a patient treated ten years previously for a chest adenocarcinoma. Her mother and her sister had hypocalciuric hypercalcemia.

Resume La nature lipopolysaccharidique des antigenes de Brucella utilises dans les techniques serologiques est a l'origine de nombreuses reactions croisees (dont Yersinia enterocolitica). Afin d'apprecier les valeurs diagnostiques respectives de la sero-agglutination de Wright (S.A.W.), l'epreuve a l'antigene tamponne (E.A.T. ou Rose Bengale), la reaction de fixation du complement (F.C.), l'immunofluorescence indirecte (.I.F.I.) et la contre immuno-electrophorese a la Brucelline (C.I.E.), les serums de 214 patients, dont 44 (20 %) proviennent de patients brucellises, ont ete etudies. Les reactions les plus sensibles sont l'I.F.I. (sensibilite = 0,84) et l'E.A.T. (Se = 0,82). Les plus specifiques sont : C.I.E. (specificite = 0,99), I.F.I. (sp = 0,97) et F.C. (sp = 0,98). Les reactions d'agglutination (E.A.T. et S.A.W.) donnent lieu a de nombreuses interferences et les taux d'agglutinations sont voisins que l'infection soit due a Brucella ou a Yersinia enterocololitica 09. Qu'il s'agisse du depistage serologique des patients brucellises (enquete epidemiologique) ou du diagnostic serologique de brucellose, il est necessaire d'associer aux reactions d'agglutinations (E.A.T. ou S.A.W.) des reactions plus specifiques et/ou sensibles comme l'I.F.I., la F.C. ou la C.I.E. a la brucelline.

Nous rapportons l'observation d'un hematome intramural spontane chez une femme prenant de l'acenocoumarol en association a un gel oral de miconazole. La scanographie thoracique permit d'affirmer le diagnostic et de reveler une complication sous forme de diffusion mediastinale de l'hematome, heureusement collectee

Resume En essai clinique ouvert, l'ofloxacine est evaluee dans 36 pneumopathies infectieuses confirmees par le cliche radiologique et documentees par un prelevement bacteriologique excluant l'examen bacteriologique des crachats. 41 agents infectieux sont isoles dont 12 S. pneumoniae et 10 H. influenzae. Quatre pneumopathies sont dues simultanement a 2 micro-organismes. Tous les germes ont des sensibilites inferieures a 1 mg/l, sauf quatre S. pneumoniae (CMI = 2 mg/l). 33 patients sont gueris. Les trois echecs concernent des infections a S. pneumoniae. L'ofloxacine est donc efficace dans le traitement des pneumopathies non nosocomiales de l'adulte. Neanmoins, compte tenu de certains echecs concernant le pneumocoque, l'ofloxacine dont l'activite est intermediaire sur ce germe, ne semble pas recommandee dans le traitement empirique de premiere intention des pneumopathies.

Resume Nous rapportons un cas de spondylodiscite a Campylobacter (C) fetus subspecie fetus chez un adulte de 57 ans. La bacterie a ete isolee d'une ponction biopsie du disque avec la presence de Staphylococcus aureus methi-S ; les hemocultures realisees simultanement sont restees negatives. La souche se signale par sa croissance a 42°C alors que classiquement C. fetus S.S.P. fetus pousse a 25°C. Le traitement par l'association pefloxacine-netromicine relaye par la pefloxacine seule a permis une evolution favorable. Il n'y a jamais eu a notre connaissance de cas identique publie jusqu'a ce jour. Nous rappelons le caractere particulier des infections a C. fetus S.S.P. fetus , de diagnostic generalement malaise.

Le diagnostic de granulomatose de Wegener est assez facilement evoque dans une forme complete associant des manisfestations pulmonaires, renales et des voies aeriennes superieures. L'association a une autre pathologie est peu frequente. Nous rapportons un cas de maladie de Wegener de forme incomplete associee a une leucemie myelo-monocytaire

resume L'atteinte renale n'est pas frequente au cours du Paludisme. Le syndrome nephrotique induit par Plasmodium malariae entraine parfois une insuffisance renale chronique et il est classiquement oppose a l'insuffisance renale aigue secondaire au Plasmodium falciparum lequel laisse rarement des sequelles renales. Nous avons observe un syndrome nephrotique au decours d'un acces pernicieux chez un jeune senegalais de 17 ans, avec evolution favorable. La biopsie renale, faite tardivement, n'a montre que quelques depots le long des parois capillaires, principalement du C3 et de l'IgM. Une atteinte des parametres lipidiques est signalee transitoirement.