[Bisalbuminemia: A case report]. / Les bisalbuminémies : à propos d'un cas.

INTRODUCTION: Bisalbuminemias consist in rare qualitative modifications of several aspects in the albumin pattern. Bisalbuminemias, most of which are not pathological, can be observed using capillary electrophoresis. CASE REPORTS: We report a case of hereditary bisalbuminemia diagnosed by chance while exploring chronic unexplained hypereosinophilia in a 42-year-old patient. The patient's normal lipid profile, the lack of an antibiotic treatment or pancreatic pathology, and the persistence of the bisalbuminemia after one month, suggested a diagnosis of genetic bisalbuminemia. In light of other such cases, we review the main causes of bisalbuminemia, both genetic and acquired. CONCLUSION: The diagnosis of genetic bisalbuminemia is made by first eliminating the usual acquired etiologies: analytical or drug interference, acute pancreatitis and binding of immunoglobulins. Then, after having checked the lipemic index, reviewed the patient's medical history, comorbidities, and treatments, repeating the electrophoresis will help identify the cause of the bisalbuminemia.

[Maxillary sinus infection by Bacillus licheniformis: a case report from Djibouti]. / Sinusite maxillaire due à Bacillus licheniformis: à propos d'un cas survenu à Djibouti.

Aerobic, spore-forming gram-positive Bacillus spp infections are rare and reported mainly in immunocompromised hosts. We report a case of acute unilateral maxillary sinusitis, caused by Bacillus licheniformis, in a 35-year-old French soldier stationed in Djibouti. It was easily identifiable due to its typical culture and resistance profile. This case is interesting for two reasons: first, it is, to our knowledge, the first case of sinusitis attributed to this microbe, and second, it has rarely been described in immunocompetent patients without altered skin or mucous membranes.

[Mycobacterium simiae pneumonia: a case report]. / Pneumopathie à Mycobacterium simiae: à propos d'un cas.

We report a case of Mycobacterium simiae pneumonia in an immunocompetent women aged 55 years, after a stay in Thailand. The diagnosis was based on culture isolation of non-tuberculous mycobacteria from bronchoalveolar lavage. The culture isolate was identified as M. simiae by biochemical and molecular methods. The patient was treated. Her condition remained stable for 5 years. During the sixth years, a relapse occurred, and a new treatment was prescribed. This is a rare case in view of the absence of any predisposing factor. M. simiae should be considered a possible causative agent of pulmonary disease, even in immunocompetent patients.

[Assessment of malaria screening management in blood donation control in the French Military Blood Institute]. / Évaluation de la stratégie de dépistage du paludisme en qualification biologique du don au CTSA.

The French Military Blood Institute is responsible for the entire blood supply chain in the French Armed Forces. Considering, the high exposition rate of military to malaria risk, blood donation screening of plasmodium infection must be as efficient as possible. The main aim of our study was to assess our malaria testing strategy based on a single Elisa test compared with a two-step strategy implying immunofluorescence testing as confirmation test. The second goal was to describe characteristic of malaria Elisa positive donors. We conducted a prospective study: every malaria Elisa positive test was implemented by immunofluorescence testing and demographical data were recorded as usual by our medical software. We showed a significant risk of malaria ELISA positive tests among donor born in endemic area and we estimate the number of abusively 3-year rejected donors. However, based on our estimations, the two-step strategy is not relevant since the number of additionally collected blood products will be low.

[Propylthiouracil-induced multispecific antineutrophil cytoplasmic antibodies]. / Anticorps anticytoplasme des polynucléaires neutrophiles multispécifiques induits par le propylthiouracile.

We report the case of a 28-year-old woman who presented with arthralgia during a treatment with propylthiouracil (PTU) for hyperthyroidism. Detection of antineutrophil cytoplasmic antibodies (ANCA) against myeloperoxidase, proteinase 3 and elastase led to suspect PTU induced vasculitis.

[Pharmacological and pharmacogenetic study of two immunomodulators: azathioprine and 6-mercaptopurine. Strategies for preventing complications]. / Etude pharmacologique et pharmacogénétique de deux immunomodulateurs: l'azathioprine et la 6-mercaptopurine. Stratégies de prévention des complications.

Thiopurines are frequently used in gastroenterology for Crohn's disease or hemorrhagic rectocolitis. Their metabolism is regulated by a particular enzyme, thiopurine S-methyltransferase or TPMT. There are three ways to evaluate the effectiveness and the risk of side effects associated with this treatment. TPMT activity measurement or genotyping are recommended to decide for treatment, while metabolites determination is a used as marker of monitoring. Phenotypic approach (TPMT activity measurement or metabolites determination) requires delicate techniques and interindividual variations make the interpretation difficult. Genotyping is easier to interpret but cannot exclude some risk of side effects.

[From gene to disease: copper-transporting P ATPases alteration]. / Du gène à la maladie : les anomalies des transporteurs du cuivre.

Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting proteins. Those mutations result in copper deficiency for ATP7A (Menkes disease) and copper overload for ATP7B (Wilson disease). Usually, clinical and biochemical phenotypes of these diseases are disparate. This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes.

[Thrombotic thrombocytopenic purpura: a case report]. / Le purpura thrombotique thrombocytopénique: à propos d'un cas.

We report a case of thrombotic thrombocytopenic purpura (TTP) in a 60 years-old woman with Sjogren's syndrome. Symptomatology on admission leads to evoke the diagnosis of TTP. Biological results allow to set the diagnosis. Actually, association of haemolytic anaemia, schizocytes and thrombocytopenia are in favour of TTP. Undetectable ADAMTS 13 activity (below 5%) confirms the diagnosis. In congenital TTP, plasma ADAMTS 13 is absent or severely reduced as a consequence of mutations in the two ADAMTS 13 gene. In acquired TTP, circulating antibodies inhibit plasma ADAMTS 13 activity. In those cases, further biological studies are needed to find a cause of TTP. Follow-up implies standard laboratory tests. Plasma exchanges are progressively tapered after normalization of platelets count.

[Consciousness disorders and severe haemolytic anaemia in a patient coming from overseas]. / Syndrome confusionnel et anémie hémolytique au retour d'outre-mer.

A 54-years-old patient coming from Guinea, who presented fever, diarrhoea, consciousness disorders and severe haemolytic anaemia, was admitted to resuscitation unit in France. Despite many explorations carried out (evaluation of traumatic causes, infection, neoplasia, vascular, toxic causes, vitamin deficiency), it was not possible to explain neurological symptomatology. Besides, haemolytic anaemia was due to the ingestion of metamizole in a context of glucose-6-phosphate dehydrogenase deficit. This drug's marketing has been suspended in France since 2006. Despite appropriate treatment, after seven days of hospitalization, the patient died of multi-organ failure and hemophagocytic syndrome. This clinical case illustrates the difficulties encountered to set a diagnosis and manage patients coming from overseas. Uncommon aetiologies for French healthcare professionals should be evoked in the absence of comprehensive clinical information.

[Fondaparinux: the present and the future]. / Fondaparinux: mise au point et perspectives.

The development of new antithrombotic molecules which induced an inhibition of activated factor X (fondaparinux, Arixtra) shows effectiveness and safety in prevention of thromboembolic disease in surgery, but also in the treatment of the pulmonary embolism and major venous thromboses and acute myocardial infarction. Recent clinical trials show that new anti-Xa inhibitors also have interesting properties in antithrombotic therapy. Fondaparinux could offer new therapeutic possibilities that could simplify the management of patients under anticoagulant treatment.

[Obligate running and anorexia]. / Addiction au sport et anorexie.

The relationship between athletic participation and eating disorders is complex. We describe the case of a sportive man and examine the overall relationship between athletic participation and eating problems.

[Nelson's syndrome management: current knowledge]. / Prise en charge du syndrome de Nelson: données actuelles.

PURPOSE: Nelson's syndrome is a severe complication of bilateral adrenalectomy performed in the treatment of some Cushing's diseases, and its management remains difficult. Trough the observation of a patient suffering from a severe form of Nelson's syndrome for more than 10 years, the authors review the literature and discuss the main current therapeutic possibilities. CURRENT KNOWLEDGE AND KEY POINTS: Many molecules have been used with variable results. In our observation cabergoline at 2 mg per week seems to be efficient after a 3 and a half years follow-up, in accordance with some recent publications. More than bromocriptine, this dopamine agonist provides interesting prospects for this disease's management. Moreover, if the conventional treatments as valproic acid or cyproheptadine are not very efficient, somatostatin analogs seem to be of some therapeutic interest. FUTURE PROSPECTS AND PROJECTS: New molecules are currently evaluated, but studies are difficult to conduct because of the low disease prevalence. Tumour receptors analysis undoubtedly constitutes an attractive way to find new therapeutic targets.

[Diagnosis of adult-onset Still's disease: contribution of biology]. / Apport du laboratoire dans le diagnostic de la maladie de Still.

We report one case of adult-onset Still's disease. The diagnosis of this disease currently requires application of Yamaguchi's criteria and then exclusion of infectious, haematological, autoimmune and neoplasic disorders. The place of biology is enhanced with the use of new markers like ferritin and glycosylated ferritin. Low percentage of glycosylated ferritin (<20%) in presence of very high level of ferritin, unexplained prolonged fever with leukocytosis can help to diagnosis. However, glycosylated ferritin is not yet of in routine use.

[Pasteurella dagmatis: an unusual cause of vertebral osteomyelitis]. / Pasteurella dagmatis: une cause inhabituelle de spondylodiscite.

Vertebral osteomyelitis is a quite rare but severe cause of back pain in adults. Various causative organisms have been reported. Pasteurella species have rarely been isolated. We report here a case of vertebral osteomyelitis and consecutive cauda equina syndrome due to Pasteurella dagmatis in a 60-year-old diabetic man.

[A case of acquired angioedema]. / Un cas d'oedème angioneurotique acquis.

We report the case of a 46 year-old woman presenting an acquired angioedema. Angioedema is an C1 inhibitor deficiency. Patients present recurrent non inflammatory swelling of the head and extremities and recurrent attacks of severe abdominal pain. This clinical presentation is non specific : investigation of complement is useful for diagnosis. Laboratory testing show low serum levels of C4 with normal levels of C3. Low C1 esterase inhibitor confirm the diagnosis. If acquired angioedema, a cause must be searched.

Is hyperhomocysteinemia an additional risk factor of the metabolic syndrome?

The aim of this study was to ascertain if hyperhomocysteinemia is associated with the metabolic syndrome. The metabolic syndrome is a cluster of cardiovascular risk factors. Hyperhomocysteinemia is an obvious independent risk factor for atheroma, and thrombosis morbidity and mortality. EPIMIL is a prospective epidemiological survey, which began with a crosssectional study of cardiovascular risk factors in a French male population, followed by monitoring for 10 years. Initial data collection, blood pressure measurement, ECG, and blood samples have been performed. For the metabolic syndrome, we used the criteria of the Third Report of the National Cholesterol Education Program-Adult Treatment Panel III (NCEP ATP III) on detection, evaluation, and treatment of high blood cholesterol in adults. Out of 2045 men aged 20-58 years (37.7 +/- 8.7 years), 185 (9%) have metabolic syndrome (at least three criteria), 587 (29%) have a plasma homocysteine level of >/=12 micromol/L, and 202 (10%) have a level of >/=15 micromol/L. Mean homocysteinemia is 10.97 +/- 5.01 micromol/L for the whole population and does not differ significantly with (11.4 +/- 6 micromol/L) or without (10.9 +/- 5 micromol/L) the metabolic syndrome, as does its value distribution. Nor does it correlate with the Body Mass Index (BMI), waist and hip measurements, or blood glucose, HbA1c, insulin resistance, and cardiovascular risk markers (CRPus, microalbuminuria). It weakly correlates with systolic and diastolic blood pressure, creatinine clearance, tobacco use, cholesterolemia, triglycerides, and free fatty acids, but not with HDL and LDL fractions, or lipoprotein(a) (Lp(a)). It contributes slightly to the 10-year vascular risk according to the Framingham equations or Score system. In this male population, homocysteinemia and the prevalence of hyperhomocysteinemia do not differ with or without the metabolic syndrome. Plasma homocysteine level does not correlate with its main criteria. Hyperhomocysteinemia is not associated with the metabolic syndrome; nevertheless, it should be monitored in high-risk cardiovascular patients.