[Epileptic seizures and hematemesis in a young patient with sickle cell disease]. / Épilepsie puis hématémèse chez une jeune patiente drépanocytaire.

INTRODUCTION: Sickle cell disease is a multi-faceted disease, which can affect all organs. Here, we report the case of a young woman whose clinical presentation was confusing. CASE REPORT: An 18-year-old patient from Martinique in Caribbean area presented to the emergency room with widespread pain, as part of a vaso-occlusive crisis. She reported being followed for SS sickle cell anemia, with a history of vaso-occlusive crises and exchange transfusions in the past. Her hemoglobin rate was 83g/L. She was treated with opioid analgesics. Then, she presented several generalized tonic-clonic seizures and major episodes of hematemesis, which proved to be simulated by the patient, whose hemoglobin electrophoresis result was finally AS. CONCLUSION: This patient had therefore the Münchausen syndrome, mimicking sickle cell anemia, like eight other cases reported in the literature.

[Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis: A report of two familial cases]. / Maladie de Kikuchi-Fujimoto ou lymphadénite histiocytaire nécrosante : à propos de deux cas familiaux.

INTRODUCTION: The histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto's disease is characterized by a lymph node inflammation whose similarity with systemic lupus is generally admitted. CASE REPORT: Our description of two familial cases aims at raising the hypothesis of the existence of a genetic background in this disease following the example of what is observed in the autoimmune diseases. CONCLUSION: Pathophysiology of Kikuchi-Fujimoto's disease is probably multifactorial and may include predisposing genetic background and a possible infectious triggering event.

Comparative evaluation of the effects of ciprofibrate and fenofibrate on lipids, lipoproteins and apoproteins A and B.

In a double-blind study over a 3-month period, a daily dose of 100 mg ciprofibrate, prescribed in a single administration and a daily dose of 300 mg fenofibrate, prescribed in 3 administrations, significantly reduced the mean values of total cholesterol, LDL cholesterol and VLDL cholesterol, apoprotein B (P less than 0.001) and increased the mean values of HDL cholesterol (P less than 0.01) and total apoprotein A (P less than 0.05). The study, followed-up as an open trial using higher doses (100 or 200 mg/day ciprofibrate, 400 mg/day fenofibrate) tried to demonstrate clearly the benefit of therapy after 9 months with the 2 drugs and to establish the dose-response effects. Comparison of the 2 drugs at the optimal dosages, after 9 months of treatment, showed ciprofibrate to be more effective in increasing HDL cholesterol (P less than 0.05) and apo A (P less than 0.001). No other significant differences in terms of either therapeutic efficacy or biological tolerance became apparent between the 2 drugs. The results obtained in this comparative study were in accordance to those observed in separate trials for ciprofibrate or fenofibrate. Ciprofibrate has the benefit of a long half-life and may also be administered in the form of a single daily dose to patients suffering from major type II hyperlipoproteinaemia.

Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins.

Fish-eye disease (FED) in humans is characterized by corneal opacities and markedly decreased plasma concentrations of high-density lipoprotein (HDL) cholesterol, apolipoprotein (apo) AI, and apo All, but no tendency to precocious atherosclerosis is present. To elucidate this paradox, the structure of HDL, the potential of serum to promote cholesterol efflux from cultured cells, and the in vivo metabolism of HDL were examined in a 53-year-old woman with a FED syndrome in association with a markedly decreased lecithin:cholesterol acyltransferase (LCAT) activity in HDL due to a mutation of the LCAT gene (Arg158 --> Cys). HDLs isolated by ultracentrifugation were small and enriched in unesterified cholesterol and phospholipids at the expense of cholesteryl esters and proteins. The apolipoprotein content showed an enrichment in apo E and apo AIV, whereas apo AI and apo All were dramatically reduced. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and immunoblotting using specific antibodies showed that the apo E was free or covalently bound to apo All. These particles analyzed by electron microscopy were small and round lipoproteins with a size similar to the smallest fraction of normal HDL3. The potential capacity of the serum to promote efflux from the cells was approximately 40% of control serum levels, but FED HDLs were as efficient as control HDLs in promoting cholesterol efflux from cells. To assess the metabolism of HDL apolipoproteins, in vivo apolipoprotein kinetic studies were performed using endogenous labeling techniques in the patient with FED and three control subjects. All subjects were administered D3-labeled leucine by primed constant infusion for up to 10 hours. The fractional synthetic rates (FSRs) of apo AI and apo All in the patient were 0.674 and 0.594 per day, clearly higher than in controls, 0.210 +/- 0.053 and 0.148 +/- 0.014 per day for apo AI and apo All, respectively. Apo AI and apo All production rates in the patient with FED were normal, 11.32 and 2.62 mg/kg x d, respectively, as compared with those in normal subjects, 11.45 +/- 1.23 and 2.68 +/- 0.17 mg/kg x d. These data established that hypoalphalipoproteinemia in FED was caused by marked hypercatabolism of apo AI and apo All. This hypercatabolism could be the consequence of structural abnormalities due to the selective LCAT deficiency. In conclusion, two steps of reverse cholesterol transport, cholesterol efflux and apo-HDL metabolism, appeared particularly efficient. This efficiency could participate in the absence of premature atherosclerosis in FED patients as regards the low HDL level.

Changes in lipid and lipoprotein levels and Achilles tendon diameters and indices in familial hypercholesterolaemic patients with tendinous xanthomatosis treated by diet and bezafibrate for 2 years.

Thirteen young adult patients suffering from heterozygotic familial hypercholesterolaemia with tendinous xanthomatosis, previously treated with a suitable special diet, were studied to assess the effect of bezafibrate, given for 2 years at a dose of 800 mg/day, on plasma lipid and lipoprotein levels and on changes in size of the Achilles tendon xanthomas. Measurements were made before and at intervals during treatment, the tendinous xanthomas being measured by an echographic procedure to give data on antero-posterior and lateral diameters, thus enabling an Achilles tendon index to be defined. The results confirm the hypolipidaemic activity of bezafibrate, changes in the levels of total cholesterol, triglycerides, lipids and lipoproteins (LDL, VLDL and HDL) being similar in direction and magnitude to those reported previously. A significant regression in the size of the Achilles tendon xanthomas was observed in 11 of the 13 patients, and the regression in the Achilles tendon index correlated significantly with a favourable change in the ratio HDL/LDL + VLDL. It is suggested that, as a result of this objective observation, a favourable effect of bezafibrate treatment would possibly be seen on the anatomical atheromatous lesions which are usual in this type of hyperlipidaemia.

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.

A 76-year-old man was found to have a false hypertriglyceridemia due to a 40-fold increased glycerolemia. This metabolic change was due to a deficiency in glycerol kinase (ATP:glycerol phosphotransferase, EC 2.7.1.30) activity in the cells of this patient as shown by incubation of his white blood cells with [14 C]glycerol. Several chromatographic analyses and quantitative assays were performed on plasma and urine of this patient and of his relatives. The small number of this family's members did not allow to specify the mode of transmission of this genetic trait.

[Comparative study of total cholesterol, HDL cholesterol, LDL + VLDL cholesterol. Two methods: precipitation by concanavalin A and ultra centrifugation (author's transl)]. / Etude comparative des taux de cholestérol HDL, cholestérol LDL + VLDL et du rapport cholestérol HDL/cholestérol LDL + VLDL dans trois populations par deux méthodes: précipitation par la concanavaline A et ultracentrifugation.

The authors determined in 3 populations (37 controls, 59 asymptomatic hyperlipemias, and 20 cases of arterial hyperlipemia) the total cholesterol, the HDL cholesterol and the LDL + VLDL cholesterol and their ratio by two methods : precipitation by concanavalin A and ultracentrifugation (AirFuge). These various lipid parameters were compared between 3 populations in order to determine their more or less discriminant character; furthermore, was established the degree of correlation between the results obtained by precipitation with concanavalin A and by ultracentrifugation. The results show : firstly, that the LDL + VLDL was significantly higher and the ratio HDL/LDL + VLDL significantly lower in hyperlipemia and in arterial disease compared with controls ; the HDL was significantly lower in arterial disease than in controls. No lipid parameter permitted one to differentiate between asymptomatic hyperlipemia and arterial disease. Furthermore, the correlation determined by the chi square method was very strong between the results obtained by precipitation with concanavalin A and ultracentrifugation as the coefficient of simple linear regression is very little different from the value + 1. They emphasize the interest of the method of precipitation by concanavalin A which is simple, rapid and very reliable.

[Xanthelasma palpebrarum and dyslipoproteinaemia: two retrospective studies (author's transl)]. / Xanthelasma et dyslipoprotéinémies: présentation de deux études rétrospectives.

In a retrospective study about 600 hyperlipoproteinaemic patients (390 men and 210 women, mean age 47), xanthelasma palpebrarum was infrequent (25 cases or 4.16 p. 100), since it was only at the third rank of chronic extra-vascular lipid deposits after arcus corneus and tendineous xanthomas. It was twice as frequent in men (5.12 p. 100) as in women (2.38 p. 100) and of regularly increasing occurrence until the sixth decade. Among the atherosclerotic risk factors, only obesity was significantly associated. The existence of atherosclerotic diseases was observed more frequently in patients with xanthelasma palpebrarum (40 p. 100) than in total hyperlipoproteinaemic population (28 p. 100). In a second retrospective study concerning 29 patients (15 men and 14 women, mean age 50), selected from the only presence of one or several xanthelasma palpebrarum, a lipoproteinaemic abnormality was observed in 27 cases (93 p. 100): 23 patients (71 p. 100) were hyperlipoproteinaemic (type IIa, IIb or IV) and in 4 out of 6 normolipidemic patients we observed an abnormal lipoprotein cholesterol distribution (LDL + VLDL cholesterol increase and HDL cholesterol decrease). In this group, we observed in nine patients (31 p. 100) unknown atherosclerotic diseases and tendineous xanthomas in other nine patients (31 p. 100).

[Idiopathic retroperitoneal fibrosis: a multicentric retrospective study of 30 French cases and follow-up of the renal function]. / Fibrose rétropéritonéale idiopathique : évolution à long terme du pronostic rénal dans une série rétrospective multicentrique de 30 cas.

PURPOSE: Idiopathic retroperitoneal fibrosis (IRF) is an inflammatory disorder, affecting the aorta and the surrounding vessels and tissues. The prognosis is mainly driven by the risks of chronic kidney disease and relapse. Our aim was to assess the prevalence of chronic kidney disease at follow-up. METHODS: We retrospectively reviewed the medical records of patients diagnosed for IRF in Seine-Saint-Denis (France) between 1987 and 2011. We collected informations about presentation, radiologic findings and follow-up. Diagnosis of IRF was confirmed when all the following criteria were met: infiltration of the infrarenal aorta or iliac vessels, absence of aneurysmal dilation, lack of clinical suspicion of malignancy. RESULTS: Thirty patients were identified, with a male/female ratio of 4.9. Mean age was 55±13 years old. The mean creatinine clearance was 66 mL/min/1.73 m(2) and the mean CRP was 45±36 mg/L. In 24 (80%) patients, the location of IRF was periaortic and periiliac. Eleven patients (37%) underwent a diagnostic biopsy, and 14 (47%) required an ureteral procedure. A mean follow-up of 63 months was available for 29 patients: 69% relapsed, 7 developed chronic renal disease (24%), and one died of urinary sepsis. Older age (P=0.023), diabetes (P=0.007), and initial renal insufficiency (P=0.05) were associated with a risk of chronic renal insufficiency. CONCLUSION: The high frequency of relapses and chronic renal disease emphasizes the need of close follow-up in patients diagnosed with IRF.

Impact of a multidisciplinary staff meeting on the quality of antibiotherapy prescription for bone and joint infections in orthopedic surgery.

INTRODUCTION: We studied the impact of a weekly multidisciplinary staff meeting (MSM) on the quality of antibiotherapy for bone and joint infections in orthopedic surgery, as part of professional practice assessment. MATERIALS AND METHODS: We retrospectively studied the file of patients hospitalized for bone and joint infection. We compared antibiotherapy compliance to good use (bacteriology, dose, length of treatment, length of adaptation to microbiology), and outcome at six months for patients with bone and joint infections, before (March 2007 to March 2009) and after (March 2009 to March 2011) implementation of the multidisciplinary staff meeting. We identified 28 patient files (32 infections) before MSM and 26 patient files (28 infections) after MSM. RESULTS: Antibiotherapy was adapted in 47% of cases before MSM, versus 96% after (P<0.0001). The dose was optimum in 72% of infections before MSM, versus 89% after (P=0.11) and the length of antibiotherapy complied with recommendations in 41% of infections before MSM, versus 86% after (P=0.0005). The average time of antibiotic adaptation to the antibiogram changed from 2 days before MSM to 1.7 days after (P=0.43). Forty seven per cent of patients were cured at six months before MSM, versus 57% after (P=0.45); the rate of treatment failure at six months decreased from 25% before MSM to 18% after (P=0.75). CONCLUSION: The effectiveness of antibiotherapy significantly improved concerning the spectrum and treatment duration (P ≤ 0.0005) after implementing MSMs in orthopedic surgery. But the clinical impact at six months was not significant due to the small population sample.

[Lipids, lipoproteins, arterial accidents and oral contraceptives]. / Lipides, lipoproteines, accidents arteriels et contraceptifs oraux.

PIP: This work reviews lipoprotein metabolism and relationships to atherosclerosis, examines the nature of arterial accidents and lipid modifications that occur with oral contraceptive (OC) use, and assesses the practical consequences for OC prescription. Cholesterol, triglycerides, and phospholipids are not soluble in aqueous milieus, and their transport in plasma is provided by macromolecules comprising a protein part and a lipid part. 5 types of these lipoproteins are distinguished by their relative richness in lipids and protein and by the nature of their proteins. The chylomicrons carry exogenous triglycerides to the peripheral tissues and cholesterol of dietary origin to the liver. Very low density lipoprotein (VLDL) cholesterol is secreted by the liver and transports triglycerides and cholesterol of endogenous origin. Low denisty lipoprotein (LDL) cholesterol originates in the degradation of VLDL cholesterol and transports cholesterol to the cells. High density lipoprotein (HDL) cholesterol is secreted by the liver and intestines or formed in the course of degradation of chylomicrons and VLDL cholesterol. Its role is to carry excess cholesterol in the peripheral tissues to the liver for elimination in the bile. Cholesterol thus follows 2 different pathways in the body: a path from the liver to the peripheral cells, whose markers are LDL and VLDL cholesterol and the plasma apoprotein B, and a path of return of excess cholesterol from the tissues and especially the arteries to the liver, marked by HDL cholesterol and the plasma apoprotein A. Only a proper balance between the 2 flows can prevent an excess of cholesterol in the arteries and the consequent constitution of atherosclerotic lesions. LDL and to a lesser extent VLDL cholesterol are strongly and positively correlated to atherogenic risk, while HDL cholesterol is negatively correlated to risk, independently of other risk factors. Arterial accidents occurring with OC use do not seem to be atheromatous in nature. A study by the Lipid Research Clinics of 2000 OC users and nonusers found that users had higher levels of total cholesterol, of triglycerides, and of LDL and VLDL cholesterol, while the elevation of HDL cholesterol was minimal. The effects of combinations of hormones in OCs depend on their composition. OCs with high or medium doses of estrogen cause an elevation in total cholesterol, triglycerides, and LDL and VLDL cholesterol. HDL cholesterol rises slightly with 19 norsteroids and declines with norgestrel. The ratio of total to HDL cholesterol is on the whole increased. OCs with low estrogen doses induce a decline inHDL cholesterol while the levels of total cholesterol and triglycerides remain unchanged. High dose progestin-only pills induce increases in LDL and decreases in HDL cholestrol. Total cholesterol tends to increases with 19 norsteroids and decline with noregestrel while triglycerides vary slightly. With smaller doses of progestin, less intense effects may be seen. The theoretic atherogenic risk determined by the levels and ratio of total and HDL cholesterol is thus increased with some hormonal combinations. OCs can be prescribed for women with normal lipid balance after a pretreatment lipid profile determination. Lipid balance should be reassessed regularly. OCs are contraindicated in cases of moderate or severe hypercholesterolemia and primary hypo HDLemia. Combined OCs may be used in cases of mild hyperlipoproteinemia in which other contraceptive methods are not possible if regular monitoring is provided.^ieng

[Genetic hypolipoproteinemia]. / Les hypolipoprotéinémies génétiques.

The very rare inherited hypolipoproteinemias are of great help to understand the relations between lipoproteins and atherosclerosis; moreover, they raise questions in this field, which are discussed in this paper.

[Dyslipoproteinemic xanthoma]. / Les xanthomes dyslipoprotéinémiques.

The authors recall the clinical and histo-chemical aspects of xanthomas and their relations with serum lipids and lipoproteins disturbances. The experimental works in animals and in human clinic are then reviewed. At the light of these results the xanthoma development physiopathology and its relation to atherogenesis is considered.

[Primary hyperlipoproteinemias. Clinical, biological and physiopathological aspects]. / Les hyperlipoprotéinémies primaires. Aspects cliniques, biologiques et physiopathologiques.

Primary hyperlipoproteinemias are of great interest for the physician and searcher, because of their atherogenic properties; on the other hand, a new type of hyperlipoproteinemia, namely hyperalphaliproproteinemia, seems to be a protective factor against clinical complications of atherosclerosis. The clinical, biological and pathophysiologic aspects of these diseases are studied both from the author's experience and literature data.

[Genetic hypolipoproteinemias]. / Les hypolipoprotéinémies génétiques.

The very rare inherited hypolipoproteinemias are of great help to understand the relations between lipoproteins and atherosclerosis; moreover, in this field, they raise questions, which are discussed in this paper.