Prise en charge d’un cas d’amélogenèse imparfaite par CFAO directe. Volume 1, Physiopathologie et plan de traitement

L'amélogenèse imparfaite est une maladie rare, génétique héréditaire, qui affecte l’émail pendant l’odontogenèse. Ces altérations se manifestent par une atteinte qualitative ou quantitative de l’émail, avec ou sans dyschromie, et généralement associée à des hypersensibilités dentaires en fonction de la sévérité de l’atteinte. Le chirurgien-dentiste a donc un rôle majeur dans le dépistage,l’orientation et/ou le traitement de cette pathologie.Dans ce travail, constituant un premier tome, nous détaillerons d’abord les caractéristiques de cette pathologie afin de mieux cerner cette anomalie. Puis, nous aborderons les différents éléments du diagnostic clinique, histologique et les diagnostics différentiels. Nous présenterons ensuite le cas clinique d’une patiente que nous avons prise en charge, avant de terminer par le plan de traitement et les décisions thérapeutiques que nous avons retenues. Au travers d’un second tome, nous décrirons pourquoi nous avons choisi de traiter cette patiente avec la technique de Conception et Fabrication Assistée par Ordinateur (CFAO), ce qui nous permettra d’argumenter les avantages et les limites de cet outil numérique

Full-mouth Rehabilitation of Hypocalcified-type Amelogenesis Imperfecta With Chairside Computer-aided Design and Computer-aided Manufacturing: A Case Report

SUMMARY Background: This case report describes the complete full-mouth treatment of hypocalcified amelogenesis imperfecta (AI) by chairside computer-aided design and computer-aided manufacturing (CAD/CAM). Case summary: After several years of interrupted dental care, a 17-year-old female patient presented with pain and also esthetic and functional discomfort. With loss of enamel and dyschromia affecting all teeth, the diagnosis was hypocalcified AI. Affected tissues were eliminated, gingivectomy with laser was performed, an indented jig was used to record the centric relationship during optical impressions, and 28 full ceramic crowns were created by chairside CAD/CAM in four sessions. The patient reported rapid pain relief and an overall improvement of well-being. Conclusion: AI sequelae can be treated promptly and conservatively with chairside CAD/CAM, obtaining esthetic and functional results

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Determination of lipoprotein lipase (LPL) activity is important for hyperchylomicronemia diagnosis, but remains both unreliable and cumbersome with current methods. Consequently by using human VLDL as substrate we developed a new LPL assay which does not require sonication, radioactive or fluorescent particles.Post-heparin plasma was added to the VLDL substrate prepared by ultracentrifugation of heat inactivated normolipidemic human serums, diluted in buffer, pH 8.15. Following incubation at 37°c, the NEFA (non esterified fatty acids) produced were assayed hourly for 4 hours. LPL activity was expressed as µmol/l/min after subtraction of hepatic lipase (HL) activity, obtained following LPL inhibition with NaCl 1.5 mmol/l. Molecular analysis of LPL, GPIHBP1, APOA5, APOC2, APOE genes was available for 62 patients.Our method was reproducible (coefficient of variation (CV): intra-assay 5.6%, inter-assay 7.1%), and tightly correlated with the conventional radiolabelled triolein emulsion method (n = 26, r = 0.88). Normal values were established at 34.8 ± 12.8 µmol/l/min (mean ± SD) from 20 control subjects. LPL activities obtained from 71 patients with documented history of major hypertriglyceridemia showed a trimodal distribution. Among the 11 patients with a very low LPL activity (< 10 µmol/l/min), 5 were homozygous or compound heterozygous for LPL or GPIHBP1 deleterious mutations, 3 were compound heterozygous for APOA5 deleterious mutations and the p.S19W APOA5 susceptibility variant, and 2 were free of any mutations in the usual candidate genes. No homozygous gene alteration in LPL, GPIHBP1 and APOC2 genes was found in any of the patients with LPL activity > 10 µmol/l/min.This new reproducible method is a valuable tool for routine diagnosis and reliably identifies LPL activity defects

Subjects features.

<p>n effective of the group.</p><p>NA not available.</p><p>Mean (range) or %.</p

Correlation between LPL activity assays in TVHTG and controls patients.

<p>Figure 2A. Correlation with conventional method (n  =  26, r  =  0.88, p<0.001). y = 8.93× + 1.21; R² = 0.77. Figure 2B. Distribution of LPL activity in TVHTG patients and controls subjects. TVHTG patients (grey square); controls (black square).</p

LPL activity and molecular diagnosis.

<p>$ 3 diabetic compound heterozygous patients ([p.Q139X];[p.S19W polymorphism]); * patient with anti-LPL antibodies and heterozygous mutation of <i>LPL</i> gene; £ Triglyceridemia determined the day of LPL activity measurement.</p

Kinetics and linearity.

<p>Figure 1A. PHLA and HL kinetics in 3 patients. LPL+HL (line); HL (dotted line); Patient 1 (triangle); Patient 2 (circle); Patient 3 (square); Patient 4 (vertical line). Figure 1B. Linearity test. Patient 1(black diamond); Patient 2 (white square); Patient 3 (grey triangle); Patient 4 (black square); Patient 5 (grey square); Patient 6 (grey circle).</p