Tangier disease phenotype diversity in dizygous twin sisters.

INTRODUCTION: Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholesterol removal and to deposition of cholesterol esters throughout the body. OBSERVATION: We report here on the case of a 53-year-old woman with a severe phenotype of TD. The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia. CONCLUSION: This family demonstrates the wide intrafamilial phenotype diversity of TD.

[Electroencephalography and normal aging]. / Electroencéphalographie et vieillissement normal.

It is a widely accepted that normal ageing hardly modifies basal rythms: alpha frequency remains occipital, symmetrical, and reactive when eyes are opened. There is probably a frequency decrease, but this is hard to determine individually in the absence of longitudinal studies. In any event, alpha frequency never drops below 9 cycles per second until after 80 years of age. Localized and mostly left-sided temporal abnormalities in normal subjects have been noted several times in the literature. However, these pose the problem of early detection of brain damage in patients with hypertension, heart of pulmonary disease. Therefore, further EEG studies on normal and pathological cerebral ageing should investigate clinically well-defined populations.

[EEG in elderly cardiac patients without cerebral lesions]. / Vieillissement EEG chez des sujets cardiaques sans lésion cérébrale.

Ageing is known to be accelerated by risk-factors. The continuity between normal and pathological ageing is still quite disputed. Concerning cerebral ageing, the use of statistical methods on electroencephalographic (EEG) parameters appeared to be interesting. In this study, three different groups of elderly subjects were examined by EEG: normal subjects without neurological nor cardiac disease, subjects with Alzheimer-dementia (AD) and cardiac patients without cerebral clinical signs. Stepwise discriminant analysis showed that EEG-parameters discriminating normal subjects from cardiac patients were different from those discriminating AD-patients from normal. Furthermore, AD-patients could be well-discriminated from elderly cardiac patients.

[An aid to the electrophysiological diagnosis of diabetic peripheral neuropathy]. / Aide au diagnostic électrophysiologique de la neuropathie périphérique diabétique.

The electrophysiological diagnosis of peripheral neuropathy in diabetics becomes increasingly difficult with the increase in number of parameters measured. We have examined 102 subjects: 60 diabetics, 32 control subjects and 10 with impaired glucose tolerance. From the 37 recorded parameters during 8 examinations, a linear discriminant analysis allowed us to separate the 19 diabetics with clinical neuropathy and the control subjects with only 5 parameters, with a good concordance (96%): the motor conduction velocities (MCV) of the peroneal and median nerves, the amplitude of the action potential (AP) of the sural nerve, the Hmax/Mmax ratio and the M latency of the Hoffman reflex. These parameters, weighted with a coefficient, constitute a score of discrimination. This score has been tested by the Jackknife method on the same sample (94% of well-classified patients), then validated on the other patients. Thus we propose a method to aid the diagnosis of diabetic peripheral neuropathy, without the arbitrary character of the classical single parameter method, and allowing easy repetition.

Selective reinnervation of the abductor and adductor muscles of the canine larynx after recurrent nerve paralysis.

Functional rehabilitation of the larynx after unilateral vocal cord paralysis was attempted in the dog by selective reinnervation of the laryngeal muscles. The intralaryngeal branches of the right recurrent nerve were dissected. The adductor branch was anastomosed with the ansa cervicalis; the abductor branch was anastomosed with the trunk of the phrenic nerve either within the larynx or through the recurrent nerve, the adductor branch of which was sectioned. Results could be analyzed in seven dogs: mobility of the vocal cord was checked, and electromyography, stimulation of the nerves, and histologic studies were performed. Functional reinnervation of both the adductor and abductor muscles was obtained in only one case, with good abduction. Adduction was recorded in five cases. False-positive results emphasize the necessity of collecting several types of data before concluding that functional reinnervation has been accomplished. The reliability of the procedure can and must be improved.

[Aortic stenosis with low preoperative ejection fraction. Long-term postoperative hemodynamic and angiographic studies]. / Rétrécissement aortique à fraction d'éjection pré-opératoire basse. Etude hémodynamique et angiographique à distance de l'intervention.

Twenty-two patients underwent aortic valve replacement for aortic stenosis with a preoperative ejection fraction less than 45%. Three patients died peroperatively and a fourth patient died 18 months later before the haemodynamic control. The other 18 patients were systematically reinvestigated, on average 16 months after surgery. Sixteen had a remarkable functional improvement and a significant increase in ejection fraction at haemodynamic control: 32 +/- 6% to 61 +/- 8%, p less than 0.001. They were surgical successes (Group I). In this group, the 7 patients with the most severe alteration of ventricular function and an average ejection fraction of: 26 +/- 3%, also improved to near normal function with a postoperative fraction of 62 +/- 11%. There was no significant improvement of the ejection fraction in 2 patients, and they were classified with the fatalities as surgical failures (Group II). The clinical, electrocardiographic, radiological, haemodynamic and angiographic data of these two populations were compared to try and identify preoperative indices of prognostic value. Only the angiographic left ventricular myocardial mass index (LVMI) was significantly higher in Group II (253 +/- 98 g/m2) than in Group I (156 +/- 56 g/m2, p less than 0.05). A discriminating analysis showed that the most important parameters to separate the 2 groups of patients were the LVMI and the thickness of the left ventricular wall. The marked increase of the postoperative ejection fraction in 3/4 of our patients confirmed the clinical value of valvular replacement justifying the indication for surgery in patients with severe aortic stenosis in spite of a severe alteration of left ventricular function.

[Anti-Gram-negative bacterial antibodies in alcoholic cirrhosis. Study of 58 patients]. / Les anticorps anti-bacille à Gram négatif au cours de la cirrhose alcoolique. Etude de 58 malades.

Gram-negative bacterial infections are frequent and severe in cirrhotic patients. Existence of endotoxemia in cirrhosis is controversial. The demonstration of Gram-negative bacterial antibodies could be an alternative approach to the pathogenic role of these bacteria. In 58 patients with alcoholic cirrhosis, the immunoglobulin G specifically directed against the Gram-negative bacteria lipopolysaccharide expressed by the J5 mutant of Escherichia coli 0111:B4 was measured. Antibody titres were compared to those of a control group of blood donors. The distributions of antibody titres were similar in cirrhotic patients and in control subjects. No correlation was found between antibody titres and biological parameters of liver function. These results seem to confirm previous reports on the absence of latent endotoxemia in cirrhotic patients, and they suggest that antibody production against Gram-negative bacteria lipopolysaccharides is not enhanced in these patients.

[Can the protein concentration of the ascitic fluid in ascites predict the occurrence of an infection?]. / La concentration des protides dans l'ascite permet-elle de prévoir la survenue d'une infection du liquide d'ascite?

In cirrhotic patients, spontaneous bacterial peritonitis is frequent and severe. This study was performed to determine if low protein concentration in ascitic fluid on admission could predict the occurrence of spontaneous bacterial peritonitis during hospitalization. Ninety-two cirrhotic patients with ascites, without spontaneous bacterial peritonitis were studied. Bacteriologic study and cultures of ascitic fluid were performed on admission and repeated every 5 days, and if any suspicion of infection occurred; 11 patients developed spontaneous bacterial peritonitis during hospitalization. Among the 92 patients in the study, protein concentration in ascitic fluid was initially less than 10 g/l in 45 and 10 of these 45 patients (22 p. 100) developed spontaneous bacterial peritonitis during hospitalization; protein concentration in ascitic fluid was initially greater than 10 g/l in 47 patients; only one of these 47 patients (2.1 p. 100) developed spontaneous bacterial peritonitis during hospitalization. This difference (22 p. 100 vs 2.1 p. 100) was significant (p less than 0.01). Ascitic fluid protein concentration (6.9 +/- 2.3 g/l) was significantly lower (p less than 0.01) in the spontaneous bacterial peritonitis group than in patients without peritonitis (13.8 +/- 10.5 g/l). These results suggest that: 1) ascitic fluid protein concentration on admission is lower in patients who will develop spontaneous bacterial peritonitis during hospitalization than in patients without infection and 2) patients with ascitic fluid protein concentration under 10 g/l on admission represent an high risk group for spontaneous bacterial peritonitis.

[A multi-factorial approach in the vital prognosis of spontaneous intracerebral hematoma]. / Approache multi-factorielle du pronostic vital des hématomes intra-cérébraux spontanés.

The prognostic assessment of a patient with intra-cerebral hemorrhage (IH) requires simultaneous appraisal of several parameters. We have attempted this with a multivariate method: discriminant analysis. We studied retrospectively 142 patients with non-operated IH, not due to vascular malformation, distributed two months after the initial event in two groups: 92 living patients and 50 dead. Discriminant analysis of 21 parameters from the initial examination and CT scan, selected five factors which best separate the two groups, since 89% of the patients were well classified. These five parameters (age, consciousness impairment, temperature, volume of the hematoma and ventricular hemorrhage) combined, give a prognostic score which gives for each patient his probability of survival or death. The validity of the proposed model was controlled on a test-sample of 66 patients from another department. The possibility of giving a trustworthy spontaneous prognosis on the first day can enable the evaluation of the possible benefit from surgery, which we illustrated with a group of 23 operated patients.

[Improvement of diabetic polyneuritis with naftidrofuryl. Preliminary results]. / Amélioration de la polynévrite diabétique sous naftidrofuryl. Résultats préliminaires.

This study was a 6-month open trial of the effects of naftidrofuryl fumarate (600 mg/day orally) on the clinical and electrophysiological signs of diabetic polyneuropathy in 15 patients. A scored clinical evaluation and an indexed electrophysiological examination were done at inclusion, and after 3 and 6 months. Mean clinical score and electrophysiological index was improved after 3 months of therapy, the improvement persisting at 6 months, with no change in control of diabetes. These results could be related to the vasodilating properties of the drug, causing an increase in nerve temperature, or to a specific neurotropic action, as recently demonstrated in rats. Controlled studies are necessary to confirm these results, and explore the mechanism of this improvement.

[Incidence and severity of drug interactions in the elderly: a prospective study of 639 patients]. / Fréquence et gravité des interactions médicamenteuses dans une population âgée: étude prospective concernant 639 malades.

The medicinal treatments of 639 patients aged over 65 were recorded on admission to hospital. The mean number of drugs consumed was 4.4 +/- 2.8 per patient. Drug interaction was found in 37 p. 100 of the patients on the basis of data published in the Vidal dictionary. The prevalence of interactions increased with the number of drugs prescribed. The medicinal families most frequently involved were digitalis derivatives, antiarrythmic agents, diuretics, anticoagulants and psychotropic drugs. Thirty patients (4.7 p. 100) presented with a side-effect that was directly ascribable to an interaction. Among the iatrogenic adverse reactions 11 were life-threatening, including 8 cases of severe dysrhythmia and 3 cases of gastrointestinal haemorrhages. Altogether, one-third of all iatrogenic disorders were consecutive to a drug interaction. Simple precautions would have considerably reduced the frequency of such side-effects.

[Causes of first convulsive seizures in adults. According to age and sex]. / Causes des premières crises convulsives de l'adulte. En fonction de l'âge et du sexe.

In the absence of epidemiological studies, we thought it might be of interest to investigate the relative frequency of first seizures in adults according to age and sex and in comparison with a control population. Our study of 317 patients admitted to hospital a few hours at most after the seizures demonstrated that alcoholism in young adults and vascular pathology in the elderly play an important role in triggering the first seizures, which accounts for the male predominance in epilepsy of the adult. It also showed that the occurrence of first seizures increases with age, especially after 60 years. We found that premonitory symptoms were present in almost one-third of the patients, even when the seizures seemed to be generalized from the start, and that there was a risk of one or several attacks during the hours that followed the first seizures.

[Myasthenic syndrome induced by lithium]. / Syndrome myasthénique induit par le lithium.

BACKGROUND: Lithium salts can induce a dysfunction of the neuromuscular junction. CASE REPORT: A patient given lithium for bipolar psychosis developed a state of major fatigue revealing a myasthenia syndrome which resolved progressively after lithium withdrawal. DISCUSSION: In the literature, we found 4 cases of neuromuscular junction disorders in patients treated with lithium. A myasthenia syndrome was induced by lithium in 3 cases and underlying myasthenia was disclosed by lithium in the last one. The long-term course in our patient was in favor of an induced syndrome rather than underlying myasthenia. We discuss the pathophysiological mechanisms. Lithium is a commonly prescribed drug. Clinicians should be aware of the possibility of neuromuscular junction disorder in patients taking lithium who develop muscle fatigue.

[Diagnostic value of a distinct rise in sedimentation rate]. / Valeur diagnostique d'une augmentation franche de la vitesse de sédimentation.

Among the 931 patients who were admitted, over a 9-month period, to an internal medicine department, a group of 84 patients (9 p. 100) whose erythrocyte sedimentation rate (ESR) was 70 mm or more at 1 hour was selected and compared to the remaining 847 patients whose ESR was below 70 mm at 1 hour. In most cases, a pathology likely to account for the distinct rise observed in ESR was found (infection in 42 p. 100 of the cases, malignant disease in 27 p. 100, inflammation in 20 p. 100), and only 5 p. 100 of these rises remained unexplained. This makes an ESR of 70 mm or more a good index of morbidity generally, without pointing at any specific disease. An ESR of 70 mm or more has very low sensitivity (always below 30 p. 100), so that no disease whatsoever can be excluded when the ESR is only slightly elevated. Moreover, in all but infectious diseases a distinctly high ESR is not an index of severity.

[Changes in arterial pressure in the postprandial period in the elderly]. / Etude des variations de la pression artérielle en période post-prandiale chez les sujets âgés.

The repercussions of food intake on blood pressure may account for certain malaises which occur after meals in elderly people. In this study, blood pressure and heart rate were measured during and after a meal in 39 elderly hospital patients divided into two groups depending on whether or not they were taking drugs likely to act on arterial blood pressure. The patients were compared with two groups of controls: 29 young adults examined after a meal and 16 elderly subjects examined at a distance from meals. A significant fall in blood pressure starting 18 minutes after the meal and without concomitant increase in heart rate, was observed in the 2 groups of elderly patients. No significant changes in blood pressure and heart rate were observed in the 2 control groups. In elderly people, food intake might act on blood pressure through entrapment of blood in splanchnic territories and/or through alteration of baroreceptors.

[Pain and extracorporeal lithotripsy for calculi of the upper urinary tract]. / Douleur et lithotripsie extra-corporelle pour lithiase du haut appareil urinaire.

This study evaluates, 1) the pain induced by extracorporeal shock wave lithotripsy for renal stones using a piezo-electric shock wave lithotriptor (EDAP LT 01) and 2) the predictive factors for severe pain leading to an indication for analgesia. The relationship between extracorporeal shock wave lithotripsy intensity and pain intensity is evaluated by a numerical scale at the beginning of the session (T0), after 15 min (T15) and after 30 min (T30). At the end of the session, patients are categorized by one of us using a three-point scale which integrates the pain and the maximum tolerable intensity. These two types of evaluation are well correlated. Successive levels of stimulation are well discriminated by patients. Habituation is observed during the session for patients with low-level pain. In 28% of the patients, the intensity of pain required analgesia. Pain cannot be predicted by age, anxiety state, side of the stones and size, diameter of the contact between patient and convergence dome. In contrast, three parameters are correlated with the pain level: The L1 distance of renal parenchyma and the L2 distance skin-stone crossed by the piezoelectric waves, the size of the stone. The superior caliceal, middle caliceal and pelvic stones are significantly the most painful. These predictive variables can be easily measured before extracorporeal shock wave lithotripsy.

[Comparison of the Doppler examination and arteriography in 209 cases of carotid stenosis and thrombosis]. / Comparaison de l'examen Doppler et de l'artériographie dans 209 cas de sténoses et thromboses carotidiennes.

The comparison of the results of continuous emission Doppler examinations and arteriographic examinations concerned 316 internal carotid arteries in 209 patients presenting a history of one or more ischemic accidents involving the carotid. This work confirms the unreliability of Doppler examination in the diagnosis of atheromatous plaques or moderate stenotic lesions of the internal carotid. However, it confirms the validity of this technique in the diagnosis of obstructive carotid stenoses since all the parameters measuring reliability (sensibility, specificity, predictive value) are around 90%. This reliability associated with the non-traumatic nature of the test justifies its important role in the diagnosis and prevention of cerebrovascular accidents.