[Evaluation of rule out strategy for patients with non-ST-elevation acute coronary syndrome with single measurement of high-sensitivity cardiac troponin I from one sample tested beetween 3 and 6 hours after chest pain onset]. / Évaluation d'une stratégie d'exclusion d'un syndrome coronarien aigu non ST+ basé sur une unique mesure de troponine de haute sensibilité à partir d'un prélèvement effectué entre 3 et 6 heures après le début de la douleur.

BACKGROUND: Guidelines recommend to consider excluding non-ST-segment elevation myocardial infarction (NSTEMI) when high-sensitivity cardiac troponin is below the limit of quantification and a single blood sample is taken > 6 h after the onset of chest pain. The aim of our study was to assess such exclusion when a single blood sample was taken 3-6 h after the onset of permanent chest pain. METHODS: This observational study included consecutive patients admitted into the emergency room of our hospital with chest pain and suspected NSTEMI, with non-contributive electrocardiograms and a single high-sensitivity cardiac troponin I (hs-cTnI) blood sample taken 3-6 h after the onset of chest pain and hs-cTnI < 4 ng/l (Abbott Diagnostic). Clinical follow-up was undertaken 1 month after admission. RESULTS: The mean age of the 432 patients was 48.5 ± 5.6 years and 51% were male. Based on a clinical algorithm, the pre-test probability of NSTEMI was low in 70%, and intermediate in 21% of patients. Among 419 patients with available 1-month follow-up data, there were no myocardial infarctions or deaths. Thirty-eight patients (9%) were admitted into hospital but none for cardiac reasons. CONCLUSIONS: Our results suggest that exclusion of NSTEMI in patients with a non-contributive electrocardiogram and a single "negative" troponin test in a blood sample taken 3-6 h after the onset of symptoms is valid.

[Screening for familial hypercholesterolemia from low-density lipoprotein cholesterol levels at admission in the coronary care unit]. / Dépistage de l'hypercholestérolémie familiale à partir du LDL cholestérol à l'admission en unité de soins intensifs cardiologiques.

BACKGROUND: Familial hypercholesterolemia (FH) is a frequent genetic disorder that leads to premature atherosclerosis and coronary artery disease. However, knowledge of FH by cardiologists is weak, and FH remains underdiagnosed in France. FH should be suspected when low-density lipoprotein cholesterol (LDLc) levels exceed 1.9g/L (4.9mmol/L) without lipid lowering therapy. PURPOSE: This multicenter retro- and prospective observational study aimed at estimating the prevalence of high LDLc levels in patients admitted in coronary care units, and the impact for the personal and familial follow-up for lipid status. METHODS: Retrospective analysis of all plasma lipid measurements performed at admission in coronary care unit of 4 hospitals in 2017. Retrospective analyses of demographic, clinical, and coronary data of consecutive patients with LDLc levels≥1.9g/L. Prospective 1 year follow-up focused on lipid levels, treatments, and personal and familial screening for FH. RESULTS: Lipid measurement has been performed in 2172 consecutive patients, and 108 (5%) had LDLc level≥1.9g/L (mean age 64±14 years, men 51%). The primary cause of the hospitalisation was acute coronary syndrome (78%), and 22% of patients were free off coronary artery disease. Lipid lowering therapy was present in 9% of patients at admission, and 84% at discharge, with high statins regimen. At 1-year follow-up, control of LDLc level was not performed in 20% of patients, and statin dose was decreased (36%) or withdrawn (7%) in 43%. Lipid measurement has been performed in at least one first degree relative in 37% of patients, and genetic exploration has been done for 3 patients. CONCLUSIONS: Screening of FH in CCU should be routinely performed using the Dutch Score when LDLc is above 1.9g/L. Individual and familial management of patients at high risk for FH screened in CCU should be optimized, both for diagnosis and therapeutic purposes.

[Protein profile in 45 Congolese children with sickle cell anaemia]. / Etude du profil protéique de 45 enfants drépanocytaires homozygotes congolais.

Sickle cell anemia (SCA) is a genetic disorder characterized by severe hemolytic anemia, frequent vaso-occlusive events and infections. In tropical environment, people are continuously in contact with infection agents. The present study was undertaken to measure 10 protein parameters in order to test humoral immunity, nutrition status and the relation between inflammation and hemolysis in sickle cell anemia patients in 45 Congolese sickle cell children (15 females and 30 males, median age: 7 yrs) and a control group of 43 well healthy congolese group (18 females, 25 males; median age 18 yrs). Mean values for immunoglobulins (IgG, IgM, IgA), nutrition proteins (albumin, transthyretin and transferrin) and inflammatory and hemolysis markers (C3, CRP, A1GP: alpha1-Glycoprotein acid and haptoglobin) were compared between two groups. Hyperstimulation of humoral immunity was observed in the SCA group. Most significative difference was found with IgA (p < 0,001). Intravascular hemolysis was illustrated by a significant decrease of the haptoglobin/A1GP ratio, and was constantly present in SCA patients. We also described a significative decrease (p < 0,001) of haptoglobin/A1GP ratio between SCA patients with inflammatory syndrom when compared to those without inflammation. All data confirm that haemolysis is quite linked to inflammation in SCA. In addition, nutrition parameters were significantly decreased in SCA group vs healthy congolese group.

[Evaluation of HBA1C measurement on Architect CI8200 (Abbott Diagnostic). Comparison with HPLC D-10 Bio-Rad assay]. / Evaluation d'une technique de détermination de l'HBA 1C sur Architect CI8200 (Abbott Diagnostic). Comparaison avec la technique HPLC D-10 Bio-Rad.

The aim of this study is to present an evaluation of HbA(1c) Assay on Architect CI8200 (Abbott Diagnostic). The measurement includes Hb assay by colorimetry and HbA(1c) by immunoturbidimetry. The percentage of HbA(1c) is the report HbA(1c)/complete Hb with a conversion coefficient. Repetability (n = 30; CV: 1.15-1.91%) and reproductibility (n = 30; CV: 2.09-2.64%) are good. Abbott results cannot be returned above 12%. Comparison between HbA(1c) Abbott and HbA(1c) Bio-Rad is performed on 161 patients samples ranging from 4.7 and 12%. Results show a correlation coefficient of 0.9847 (N = 161) with a regression equation: [Abbott] = 1.02x [Bio-Rad]-0,636]. Differences between two methods are normally distributed. 95% of differences lie between limits (-0.61%; +0.61%). Such differences are clinically important and interchangability of two measurements can't be possible now because lack of agreement. We hope that IFCC standardization will reduce these differences. Presence of a jaundice and carbamylation of haemoglobin do not interfer with Abbott assay. Hemoglobin variants are not detected. Therefore, monitoring of diabetic patients with HbA(1c) is possible only if hemoglobinopathy has been identified before.

[BNP or NT-proBNP: "that is the question"]. / BNP ou NT-proBNP : "mon coeur balance"

Blood measurements of BNP and NT-proBNP, its catabolite, improve diagnosis for patients admitted to emergency departments with dyspnoea. In this paper, we have compared the BNP to the NT-proBNP for 119 dyspnoeic patients using at random clear clinical status. Among the test group of 119 patients, 57 showed coherent biological results for the 2 markers. These results confirm the final clinical diagnosis. Nine patients with congestive heart failure had abnormally low BNP and NT-proBNP rates. Six of these patients experienced long delays (longer than 48 hours and less than 72 hours) between their admission in emergency and the biological measurement of the natriuretic biomarkers. Three of the other patients could be not only flash OAP cases with a fast growth and a fast normalisation of BNP but also could have existing genetical factors. These genetical factors leading to high variability in BNP synthesis are not related to physiological or cardiac factors. 43 patients showed a mismatch between BNP and NT-proBNP. BNP appeared to be unstable in vitro. The lack of stability in whole blood or plasma samples is increased by sampling in a glass EDTA collection tube and too long delays in transferring the samples from the emergency area and the laboratory in a big hospital. Ten patients showed a mismatch with abnormally high NT-proBNP or false positive results. Among these 10 patients, 5 had renal dysfunction with a high level of creatinine concentration. It is clear that all Diagnostics Manufacturers should now propose different cut-off for natriuretic peptides tests according to the degree of patients' renal impairment.

[Vitamin C measurements in vulnerable populations: 4 cases of scurvy]. / Penser à doser la vitamine C : à propos de 4 cas...de scorbut.

Hypovitaminose C, at the origin of the scurvy, did not disappear. We report 4 cases of desocialized patients and whose very unbalanced diet was at the origin of the vitamin deficit. In addition to the hemorrhagic demonstrations described among 4 patients, one finds a modification of the superficial body growths. Physiologically, the vitamin C takes part in the stability of the collagen of the vascular wall and the bone. The biological assessment of the 4 patients was normal apart from the low ascorbemy, a syndrome of denutrition and anaemia related to the haemorrhage. The quality of the vitamin C determination requires to respect the recommended pre-analytical conditions. The treatment quickly effective, consists of an oral administration of ascorbic acid. The evolution for 3 of the 4 described patients was favorable without after-effects. The proportioning of the vitamin C should be more often prescribed in geriatrics, psychiatry and cancerology. It should systematically form part of the biological assessment of the people living alone and/or homelessness.

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.

In this study we have used denaturing gradient gel electrophoresis (DGGE) for identifying sequence alterations in glycoprotein (GP) IIb and IIIa genes from 20 patients affected by Glanzmann's thrombasthenia. These patients were from 16 different families. Using computer modelling, we divided the promoters, coding sequences and flanking splicing regions, in 31 segments for the GPIIb gene and 19 domains for the GPIIIa gene. We were able to find a mutation potentially affecting GPIIb-IIIa expression or function in 16 patients out of 20. In six patients from three families, the gypsy mutation modifying the splice donor site of intron 15 of the GPIIb gene was detected. In the other patients, 10 novel mutations were characterised, which were located either in the GPIIb gene (nine cases) or in the GPIIIa gene (one case). The type of mutation was nonsense mutation (one case), missense mutation (five cases), small insertion of 1 bp (one case) and splicing modifications (three cases). Among these genetic events, three were directly responsible for Glanzmann's thrombasthenia, four were localised in regions known to be involved in GPIIb-IIIa complex expression and three mutations were potentially responsible for Glanzmann's thrombasthenia.

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.

Serum procalcitonin rise is only slight in two cases of disseminated aspergillosis.

High serum concentrations of procalcitonin (PCT) have been found during bacterial and parasitic infections. This is a report of two cases of disseminated aspergillosis with moderate PCT increase in two 14-year-old girls after bone marrow transplantation (BMT) for myelodysplastic syndrome and Fanconi's anemia, respectively. In contrast, the important rise of serum CRP observed in these patients tends to demonstrate that the synthesis of these two proteins is under different control mechanisms.