[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At 1-year follow-up, control of LDLc level was not performed in 20% of patients, and statin dose was decreased (36%) or withdrawn (7%) in 43%.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.

[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.

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.