[Brain abscess as the first clinical manifestation of isolated pulmonary arteriovenous malformation without Rendu-Osler disease]. / Abcès cérébelleux révélant une malformation artérioveineuse pulmonaire isolée en dehors de la maladie de Rendu-Osler.

INTRODUCTION: Brain abscesses occur in 5 to 13 % of patients with pulmonary arteriovenous malformation (PAVM), more often present in Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT). CASE REPORT: A 51-year-old man with a history of transient Parinaud syndrome at 37 years complained of headache for 2 months before acute onset of a left cerebellar syndrome without fever. CT-scan and MRI of the head revealed a heterogeneous left cerebellar lesion. A brain abscess was drained and all signs resolved. CT-scan of the chest revealed a left lingual PAVM; occlusion was incomplete after coil embolization. He had no feature of HHT and no mutation in ENG and ACVRL1 genes. A second embolization was performed 5 months later, but the malformation was not occluded at 6 months. DISCUSSION: We report the seventh case of PAVM complicated by a cerebellar abscess. The right to left shunt in PAVM results in hypoxemia, secondary polycythemia and paradoxical embolization of infective organisms bypassing the pulmonary filter. CONCLUSION: Combining different MRI techniques (in particular diffusion and proton MR spectroscopy) provides invaluable data for the diagnosis of brain abscess. Careful search for PAVM must be undertaken, particularly in adults with cryptogenic abscess, to avoid further abscess formation or stroke.

Superior mesenteric artery syndrome: a rare etiology of upper intestinal obstruction in adults.

The superior mesenteric artery (SMA) syndrome is an atypical cause of high intestinal obstruction in adults. Formerly considered controversial, this syndrome has now been recognized as a real clinical entity which results from extrinsic compression of the third portion of the duodenum by reduction of the angle formed between the SMA and the aorta, usually favoured by rapid and dramatic weight loss. We report a case observed in a 25-year-old female. The abdominal scan provided the diagnosis. Laparoscopic duodenojejunostomy provided cure after failure of initial conservative treatment.

[Susac syndrome, retinocochleocerebral microangiopathy: contribution of MRI]. / Le syndrome de Susac, microangiopathie rétinocochléocérébrale : apport de l'IRM.

This is a new case of Susac syndrome in a 27-year-old woman with polymorphic neurological disorders, her brain MRI showed multifocal hyperintense signals on T2-weighted images with possible effects on the corpus callosum. However, visualization of an occlusion in the retinal arterial branch of the right eye and hypoacusia on the right side allowed confirmation of the diagnosis. In this case report, we describe the imaging aspects of Susac syndrome and demonstrate that brain MRI allows the syndrome to be diagnosed at an early stage.

Cystatin C improves the diagnosis and stratification of chronic kidney disease, and the estimation of glomerular filtration rate in diabetes.

AIMS: Estimation of glomerular filtration rate (GFR) is recommended to diagnose and stratify chronic kidney disease (CKD). Can cystatin-C (cysC) assay improve the results in diabetic patients? METHODS: In 124 diabetic patients with a wide range of GFR, as determined by 51Cr-EDTA clearance (i-GFR), we estimated 'e-GFR' by: the recommended Cockcroft-Gault (CG) formula and Modification of Diet in Renal Disease (MDRD) study equation; the new Mayo Clinic quadratic (MCQ) equation; the recently proposed composite estimation including both serum creatinine and cysC; and a simplified approach dividing the MDRD by cysC if less than 1.10mg/L. RESULTS: The highest diagnostic accuracy (receiver operating characteristic [ROC] curves) and the highest proportions of well-stratified patients were obtained by cysC and the MDRD which, however, underestimated i-GFR for patients without CKD (-17%, P<0.001). The CG overestimated GFR in KDOQI stages 1 and 2, ignored stage 5 and was the least accurate. The MCQ equation overrepresented stage 2, overestimating GFR at this stage (+23%, P<0.005). The composite estimation (54.7+/-27.0mL per minute 1.73m(2)) correlated best with i-GFR (56.1+/-35.3; r=0.90, P<0.001), and did not significantly differ from it across the entire population and within each Kidney Disease Outcome Quality Initiative (KDOQI) stage but was also biased (Bland-Altman procedure). Simply dividing the MDRD by cysC ifless than1.10mg/L produced a comparable performance and eliminated the bias. CONCLUSION: The recommended creatinine-based estimations of GFR need to be improved. CysC assay helps in the diagnosis and stratification of CKD and leads to better estimates of GFR in diabetic patients without any substantial increase in complexity.

2-ethoxycarbonyl-2-methyl-3,4-dihydro-2H-pyrrole-1-oxide: evaluation of the spin trapping properties.

The 2-ethoxycarbonyl-2-methyl-3,4-dihydro-2H-pyrrole-l-oxide (EMPO), an easily prepared pyrroline-N-oxide has been tested as a free radical scavenger. Spin adducts of superoxide, hydroxyl radical, and other free radicals were characterized in phosphate buffer at pH 7.0 and 5.6. At pH 7 in phosphate buffer, the EMPO/O(2)(-*) spin adduct was estimated to be about five times more persistent than its DMPO analogue. Furthermore, its decay does not produce the EMPO/HO&z.rad; adduct.

5-(Diethoxyphosphoryl)-5-methyl-1-pyrroline N-oxide: a new efficient phosphorylated nitrone for the in vitro and in vivo spin trapping of oxygen-centered radicals.

5-(Diethoxyphosphoryl)-5-methyl-1-pyrroline N-oxide (DEPMPO, 2), a new spin trap, has been synthesized via a two-step synthetic route, and its ability to spin trap oxy radicals in biological milieu has been addressed. The in vitro spin trapping of hydroxyl and superoxide radicals was investigated in a phosphate buffer 0.1 M, and the hyperfine coupling constants of the spin adducts were determined. The rates of spin trapping of hydroxyl and superoxide radicals with 2 were found to be close to those reported for 5,5-dimethyl-1-pyrroline N-oxide (DMPO). However, the DEPMPO-superoxide spin adduct was shown to be significantly more persistent (15 times at pH 7) than the DMPO--superoxide spin adduct. Using 2 as a spin trap, the production of superoxide has been clearly characterized during the reperfusion of ischemic isolated rat hearts.

Evaluation of the new automated ELISA Vidas Lp(a) assay. Comparison with an immunonephelemetric method.

Lipoprotein (a) [Lp(a)] is a lipoprotein which has a plasma concentration that is highly correlated with cardiovascular disease. In this study, the new Lp(a) assay for the Vitek Immuno-Diagnostic Assay System (VIDAS) developed by bioMérieux was evaluated. This method uses an enzyme linked fluorescent immunoassay (ELFIA) technique. Within-run and between-run reproducibility of the Vidass Lp(a) assay are characterized by coefficients of variation (CV) of 3 to 5.9% and 3.9 to 5.9%, respectively. Using analysis of variance, no statistical difference was shown between ELFIA and immunonephelometric assay (INA). When comparing results of the Vidas Lp(a) test with the INA, a highly significant correlation of r = 0.9708 and regression line equation y = 0.963x-0.037 was found. Interference of lipemia was studied: no influence was observed up to 12.3 mmol l(-1) triglycerides. No interference of haemoglobin was noted for Lp(a) > 0.20 g l(-1). Hyperbilirubinemia ( > 120 micromol l(-1)) led to results being underestimated for concentrations of Lp(a) which were < 0.20 g l(-1). No pre-analytical interference of citrate was measured but pre-analytical interference of EDTA was found. In conclusion, this new fully automated immunofluorimetric Lp(a) assay enables to the rapid, accurate and reliable determination of Lp(a) in blood samples.

Serum fatty acid profiles in type I and type II diabetes: metabolic alterations of fatty acids of the main serum lipids.

Fatty acid profiles of various lipid fractions were determined in carefully selected insulin-dependent and non-insulin-dependent diabetics to assess relationships between serum fatty acid composition and type of diabetes. Clear-cut hypertriglyceridemia with slight hypercholesterolemia was found in both diabetic types. The decrease of lignoceric acid in sphingomyelin is the only alteration found in both types of diabetes. In the insulin-dependent diabetics, there were increases in levels of oleic acid and of alpha-linolenic acid in esterified cholesterol, and in levels of alpha-linolenic acid in the triglyceride fraction. In the non-insulin-dependent diabetics, there were increases in levels of oleic acid and total monounsaturated fatty acids in the triglyceride fraction and there was an increase in levels of saturated fatty acids and a decrease in levels of polyunsaturated acids in phosphatidylcholine; in sphingomyelin, dihomogamma-linoleic acid levels were enhanced. Arachidonic acid levels were normal in our patient population.

[Evolution of serum gammaglutamyl transpeptidase activity in treated hyperthyroid and hypothyroid patients]. / Evolution de l'activité sérique gammaglutamyl transpeptidase (GGT) au cours des hyperthyroïdies et des hypothyroïdies traitées.

The pattern of gammaglutamyl transpeptidase levels was studied in the sera of 25 subjects with hyperthyroidism and 11 subjects with hypothyroidism, before and after treatment, and in 14 age- and sex-matched control subjects. Gammaglutamyl transpeptidase levels were significantly increased in hyperthyroidism (65 +/- 59 U/l) (p less than 0.01) and significantly decreased under treatment (40 +/- 27 U/l) (p less than 0.001). Before treatment, gammaglutamyl transpeptidase levels correlated with alkaline phosphatase levels and 5'-nucleotidase levels, the correlation persisting after treatment with 5'-nucleotidase. Alkaline phosphatase levels significantly increased under treatment (p less than 0.01). The percentages of gammaglutamyl transpeptidase variation correlated with thyroxine (r = 0.44, p less than 0.03), triiodothyronine (r = 0.47, p less than 0.02) and latent fixation capacity (r = 0.44, p less than 0.03) variations. Subjects with hypothyroidism had significantly decreased gammaglutamyl transpeptidase levels before treatment (18 +/- 9 U/l, p less than 0.01). Alkaline phosphatase levels were significantly decreased before treatment, and significantly increased after treatment. For all subjects with hyperthyroidism of hypothyroidism, the percentages of gammaglutamyl transpeptidase variations correlated with thyroxine (r = 0.48, p less than 0.003) and triiodothyronine (r = 0.39, p less than 0.016) variations. These results suggest that variations in gammaglutamyl transpeptidase levels in hyperthyroidism and hypothyroidism are, at least in part, in relation with variations in thyroid hormone levels.

[Development of a method for determining lead blood levels with chronopotentiometry]. / Développement d'une méthode de dosage de la plombémie par chronopotentiométrie.

A potentiometric stripping analysis method for blood lead determination, using Radiometer Tracelab PSU 22, has been investigated. Hemoglobin precipitation by hydrochloric and perchloric acids mixture allows to obtain the same signal for the same lead concentrations in aqueous standards and various blood samples. Thus it is possible to use a time saving calibration procedure. Equilibration time increase improved method sensitivity and precision. The analysis time was 3 minutes per sample. The detection limit was 0.006 microM/L. The relative standard deviation was 3.6% for 1.351 microM/L and 6% for 0.203 microM/L. The results of 66 determinations obtained by this method and by graphite furnace atomic absorption spectrometry were compared (R=0.991). Potentiometric stripping analysis is less expensive and very convenient for clinical laboratories.

Decrease in zinc serum concentrations after surgical intervention. A study of 87 cases.

The post-surgery zinc depletion reported by Hallböök in 1977 and subsequently confirmed by many authors is now well known. Our study concerns a homogeneous group of 87 female patients undergoing the same surgical procedure: simple or enlarged hysterectomy. Results confirm a mean 35% drop in serum zinc after surgery compared to initial values. The drop is mainly during the operation. A parallel zinc and albumin depletion was noted in 36 patients between the beginning and end of intervention. More systematic zinc supplementation could be proposed before surgery in patients presenting chronic zinc depletion.

Grading of small hepatocellular carcinomas (≤2 cm): correlation between histology, T2 and diffusion-weighted imaging.

OBJECTIVE: To evaluate the capacity of diffusion-weighted imaging (DWI) to determine the histological grade of small-sized hepatocellular carcinomas (HCCs) in liver cirrhosis in comparison with T2 weighted imaging. METHODS: 51 cirrhotic patients with 63 histologically proven HCCs ≤2 cm underwent abdominal MRI, including DWI (b-values 50, 400 and 800 s mm(-2)) and T2 weighted sequences. HCCs were classified into well-differentiated HCCs (n = 37) and moderately differentiated HCCs (n = 26). Relative contrast ratios (RCRs) between the lesions and the surrounding liver were performed and compared between the two groups for T2 weighted images, each b-value and apparent diffusion coefficients (ADCs). A receiver operating characteristic (ROC) analysis was performed to compare RCRs in T2 and diffusion-weighted images. RESULTS: We found significant differences in RCRs between well-differentiated vs moderately differentiated HCCs for b = 50, 400 and 800 s mm(-2) and T2 weighted images (1.35 ± 0.36 vs 1.86 ± 0.62; 1.35 ± 0.38 vs 1.82 ± 0.60; 1.27 ± 0.30 vs 1.74 ± 0.53; 1.14 ± 0.18 vs 1.43 ± 0.28, respectively; p < 0.001), whereas no significant differences were observed in ADC and ADC RCR (1.05 ± 0.19 vs 0.99 ± 0.15 and 1.1 ± 0.22 vs 1.09 ± 0.23; p = 0.16 and p = 0.82, respectively). No significant difference was found in the areas under the ROC curve for RCRs of T2 weighted images and every DWI b-value (p = 0.18). CONCLUSION: The RCR measurement performed in DWI 50, 400 and 800 b-values and T2 demonstrated a significant difference between well-differentiated and moderately differentiated small-sized HCCs. Furthermore, no difference was shown by using either ADC or ADC RCR. ADVANCES IN KNOWLEDGE: DWI with RCR measurement may be a valuable tool for non-invasively predicting the histological grade of small HCCs.

[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression]. / Neurofibromatose de type 2 : différence inter-générationnelle d'expression génétique et clinique.

INTRODUCTION: Neurofibromatosis type 2 (NF2) is a rare dominantly inherited disease. Its clinical presentation can be completely different in children and adults and early diagnosis is often difficult. The NF2 gene molecular analysis can help for diagnosis, but its result can be negative in case of NF2 mosaicism. OBSERVATIONS: We report the case of a 43-year-old man who had developed a severe phenotype with bilateral vestibular schwannomas at 19 years of age. His son presented a retinal hamartoma with loss of vision in his right eye at 2 months of age. At 9 years of age, asymptomatic schwannomas of the cranial nerves were discovered: cranial nerves X (left), XI (left), and VIII (bilateral). Partial constitutional NF2 deletion (from exons 2-7) was detected in his son. The deletion was not detectable in the DNA blood of his father and we strongly suspect a mosaic form of NF2. CONCLUSION: Ophthalmological manifestations can be the initial sign of NF2 in childhood. These features must be actively sought during the first year of life in individuals at risk of NF2. NF2 mosaicism is often described as a mild form of NF2 with a very low risk of transmission to the carrier's children. We show that NF2 mosaicism can sometimes develop severe NF2 symptoms and we confirm that the transmission risk to the offspring depends on the proportion of zygotes carrying the mutation. NF2 remains a life-limiting and life-spoiling condition. Early diagnosis is necessary to prevent complications and the follow-up of NF2 patients must be organized throughout life in specialty centers.