Annales de biologie clinique最新文献

ACT (Activated Clotting Time) is a point of care test (POCT) on whole blood, used to monitor the heparinization of patients in the operating room in cardiac surgery (ExtraCorporeal Circulation ECC) and in interventional cardiology (TAVI, AF ablation). The ACT is concerned both by the ISO 22 870 standard and French regulations regarding POCT. We performed an important work at the Bordeaux CHU on its accreditation, by rationalizing and making the park uniform (11 HemochronTM Signature Elite), standardizing the training and the habilitation of operators in medical units, introducing periodic quality controls, centralizing in the laboratory the management of the devices and reagents and by connecting it to the laboratory's computer system (Middleware, SIL et expert softwares). One year after, we have some positive feedbacks with only a few technical problems and with only few remarks raised during internal audits.

Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding.

European Society of Cardiology (ESC) guidelines allow to perform rapid rule-in and rule-out algorithm with rapid troponin kinetics for the management of suspected Non ST-elevation acute coronary syndrome. These recommendations allow the use of point-of-care testing (POCT) systems provided that they have sufficient analytical performance. The aim of our study was to evaluate in real life the feasibility and performance of using a high sensitivity cardiac troponin I POCT system assay (hs-cTnI, Atellica® VTLi, Siemens) compared to high sensitivity cardiac troponin T values (hs-cTnT, e602®, Roche) obtained for patients admitted to emergency department. Analytical verification showed a coefficient of variation below 10% for hs-cTnI. Comparison of both troponins was moderate (r = 0.7). The study included 117 patients with a median age of 65 years, 30% had renal failure and 36% presented with chest pain. In this study, the hs-cTnT value was, more often, higher than the 99th percentile than the hs-cTnl value, even for an age-adjusted 99th percentile hs-cTnT value. The concordance of the results was moderate (Cohen's Kappa: 0.54), age remaining the most important explanatory value of discordance. Only hs-cTnT had a predictive value for hospitalization. We did not observe any interpretation discrepancies for patients who had troponin kinetics. This study confirms the feasibility of using a POCT analyzer in the emergency department, provided that it performs high sensitivity troponin. However, some data are missing to be able to use it in the framework of rapid algorithm. Finally, the implementation of POCT requires collaboration between biologists and emergency physicians in terms of organization and interpretation of values, for the overall benefit of the patient.

Malaria is a potentially severe disease, particularly in Africa. In Europe, the majority of malaria cases come from travelers returning from endemic areas. The non-specific symptomatology may not alert the clinician if this notion of travel is not addressed. However, diagnosis and rapid initiation of treatment prevent the evolution of severe forms of the disease, especially in the case of Plasmodium falciparum infection, which can be life-threatening within 24 hours. Thin and thick blood smears microscopy is the main tools for diagnosis, but some automated hematology analyzers have demonstrated their ability to participate in early diagnosis. We describe two cases illustrating the contribution of the Sysmex XN-9100 automated system for the diagnosis of malaria. The first clinical case described a young man infected with numerous Plasmodium falciparum gametocytes. WNR (white blood cell count) and WDF (white blood cell differenciation) scattergrams showed an additional population, corresponding to gametocytes. The second case focused on a man with neuromalaria and high Plasmodium falciparum parasitaemia. Parasitized red blood cells form an inconspicuous double population on the reticulocyte scattergram, located at the discrimination limit between mature red blood cells and reticulocytes. Scattergram abnormalities, which can be visualized in a few minutes, offer an anticipation of the diagnosis of malaria in comparison to thin and thick smears microscopy, that requiring considerable time and expertise.

Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.