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Artigo em Inglês | MEDLINE | ID: mdl-33237026


In order to propose a course of action to be taken in the face of any hyperhomocysteinemia, we have reported for the first time in a French journal the recommendations made within the framework of the European E-HOD project for the diagnosis and treatment of remethylation disorders. The remethylation route ensures homocysteine-methionine conversion. It is linked to the folate cycle and the intracellular metabolism of cobalamins. Remethylation disorders can be classified into three groups: 1) isolated disorders (cblD-HC, cblE, cblG) corresponding to an isolated deficit in the production of methylcobalamin, cofactor of methionine synthase; 2) combined disorders (cblC, cblD-MMA/HC, cblF, cblJ) corresponding to an alteration of the transport and intracellular metabolism of cobalamins, which causes a defect in the synthesis of the two functional forms of cobalamin: methylcobalamin and adenosylcobalamin, a cofactor for methyl malonylCoA mutase; 3) MTHFR deficit, an abnormality of the folate cycle. The biological anomalies observed are hyperhomocysteinemia and hypomethioninaemia associated in the case of disorders combined with increased urinary excretion of methylmalonic acid. The clinical presentation is however heterogeneous according to the remethylation disorder but also for the same pathology according to the age. Given the large number of pathologies grouped together in remethylation disorders, this point is illustrated by only two clinical cases concerning the same deficit (deficit in MTHFR) but with different discovery circumstances: a neonatal form and a late form.

Clin Biochem ; 85: 5-11, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32781055


Mild traumatic brain injury (mTBI) is one of the common causes of emergency department visits around the world. Up to 90% of injuries are classified as mTBI. Cranial computed tomography (CCT) is a standard diagnostic tool for adults with mTBI. Alternatively, children can be admitted for inpatient observation with CCT scans performed only on those with clinical deterioration. The use of blood biomarkers is a supplementary tool for identifying patients at risk of intracerebral lesions who may need imaging. This review provides a contemporary clinical and laboratory framework for blood biomarker testing in mTBI management. The S100B protein is used routinely in the management of mTBI in Europe together with clinical guidelines. Due to its excellent negative predictive value, S100B protein is an alternative choice to CCT scanning for mTBI management under considered, consensual and pragmatic use. In this review, we propose points to help clinicians and clinical pathologists use serum S100B protein in the clinical routine. A review of the literature on the different biomarkers (GFAP, UCH-L1, NF [H or L], tau, H-FABP, SNTF, NSE, miRNAs, MBP, ß trace protein) is also conducted. Some of these other blood biomarkers, used alone (GFAP, UCH-L1) or in combination (GFAP + H-FABP ± S100B ± IL10) can improve the specificity of S100B.

Ann Biol Clin (Paris) ; 78(4): 438-440, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32576545


Hyperprolactinemia is common and accounts for 20 to 25% of secondary amenorrhea causes. Here, we report a case of moderate hyperprolactinemia observed in a 40-year-old patient consulting for spaniomenorrhea and inguinal pain during a bartholinitis episode. After eliminating all known causes of hyperprolactinemia, alprazolam intake is finally assumed. This hyperprolactinemia is found in a few bibliographic studies and is also noted in the summary of product characteristics. However, benzodiazepines are not known as hyperprolactinemia-inducing drugs by the endocrinologists and do not appear in the list of drugs established by a consensus of experts from the French Society of Endocrinology. This article aims to increase awareness of prescribing physicians and biologists of the possible occurrence of hyperprolactinemia in patients treated by benzodiazepines, especially since the intake of this molecule is particularly common in France, whether it is a medical prescription or self-medication.

Alprazolam/efeitos adversos , Benzodiazepinas/efeitos adversos , Hiperprolactinemia/induzido quimicamente , Adulto , Amenorreia/induzido quimicamente , Amenorreia/complicações , Feminino , Humanos , Hiperprolactinemia/complicações
J Clin Med ; 9(3)2020 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-32143453


Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010-2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6-11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich's ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1-8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.

Ann Biol Clin (Paris) ; 78(1): 93-107, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-32108587


The measurement performance of 13 biochemistry parameters (CEA, CA 19-9, amylase, lipase, sodium, potassium, chloride, creatinine, glucose, protein, albumin, LDH, triglycerides) was tested in a panel of biological fluids other than blood and urine (peritoneal, pleural, pancreatic fluids ...). Our protocol, based on a risk analysis, allowed us to justify our choices and compare the performance obtained with those of the serum or plasma matrix already validated. Thus, the coefficients of variation obtained in body fluids are comparable. The assessment of accuracy (spiking and dilution tests) shows the absence of bias, which is consistent with the absence of matrix effect. The linearity studied by dilution tests shows that the upper limits of the measurement interval communicated by the supplier are applicable to body fluids. The absence of contamination and stability have been also confirmed. All analytes are stable for 3 days at room temperature, 7 days between 2 and 8̊C, and 6 months at -20̊C; except LDH and lipase. For most analytes, at least one interference (hemolysis, icterus, lipemia) was found. Finally, a bibliographical study, confronted with the experience of prescribers, led us to define optimal thresholds to help interpret patients' results. In conclusion, this work has allowed us to validate analytical methods for body fluids testing after relying on their comparability to the blood matrix. We have also been able to adapt our practices and finally be accredited according to the standard NF IN ISO 15189.

Biomarcadores/análise , Líquidos Corporais/química , Técnicas de Laboratório Clínico , Albuminas/análise , Albuminas/metabolismo , Amilases/análise , Amilases/metabolismo , Biomarcadores/metabolismo , Líquidos Corporais/metabolismo , Antígeno CA-19-9/análise , Antígeno CA-19-9/metabolismo , Antígeno Carcinoembrionário/análise , Antígeno Carcinoembrionário/metabolismo , Cloretos/análise , Cloretos/metabolismo , Técnicas de Laboratório Clínico/métodos , Técnicas de Laboratório Clínico/normas , Creatinina/análise , Creatinina/metabolismo , Glucose/análise , Glucose/metabolismo , Humanos , L-Lactato Desidrogenase/análise , L-Lactato Desidrogenase/metabolismo , Lipase/análise , Lipase/metabolismo , Potássio/análise , Potássio/metabolismo , Proteínas/análise , Proteínas/metabolismo , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Sódio/análise , Sódio/metabolismo , Temperatura , Triglicerídeos/análise , Triglicerídeos/metabolismo
Clin Chem Lab Med ; 57(8): 1177-1184, 2019 07 26.
Artigo em Inglês | MEDLINE | ID: mdl-30763262


Background The addition of S100B protein to guidelines for the management of mild traumatic brain injury (mTBI) decreases the amount of unnecessary computed tomography (CT) scans with a significant decrease in radiation exposure and an increase in cost savings. Both DiaSorin and Roche Diagnostics have developed automated assays for S100B determination. Recently, bioMérieux developed a prototype immunoassay for serum S100B determination. For the first time, we present the evaluation of the S100B measurement using a bioMérieux Vidas® 3 analyzer. Methods We evaluated the matrix effects of serum and plasma, and their stability after storage at 2-8 °C, -20 °C and -80 °C. The new measurement prototype (bioMérieux) was compared with an established one (Roche Diagnostics), and a precision study was also conducted. Lastly, clinical diagnostics performance of the bioMérieux and Roche Diagnostics methods were compared for 80 patients referred to the Emergency Department for mTBI. Results Stability after storage at 2-8 °C, -20 °C, and -80 °C and validation of the serum matrix were demonstrated. The bioMérieux analyzer was compared to the Roche Diagnostics system, and the analytical precision was found to be efficient. Clinical diagnosis performance evaluation confirmed the predictive negative value of S100B in the management of mTBI. Conclusions The study's data are useful for interpreting serum S100B results on a bioMérieux Vidas® 3 analyzer.

Análise Química do Sangue , Imunoensaio , Subunidade beta da Proteína Ligante de Cálcio S100/sangue , Adulto , Idoso , Automação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem