Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
M Fleury
Publications and source records attributed to M Fleury.
[Ataxia associated with gluten sensitivity, myth or reality?].
INTRODUCTION: Gluten ataxia refers to the association of idiopathic ataxia despite exhaustive investigations with gluten sensitivity defined by anti-gliadin antibodies (AGA) presence in blood. This is a controversial concept. PATIENTS AND METHODS: We screened 33 patients, who were hospitalized in 2003 and had subacute or chronic ataxia for presence of circulating AGA. Twelve patients were positive and their clinical and biological features were studied. RESULTS: Among the twelve patients, we concluded that gluten ataxia was present in only eight, including one case of celiac disease. Among these eight patients, five had the usual features of gluten ataxia (progressive cerebellar ataxia affecting mainly lower limbs), but one patient presented unusual left cerebellar hemisyndrome and the two others displayed polyneuropathy with proprioceptive ataxia. Cerebellar atrophy was confirmed with magnetic resonance imaging in five cases and association with other antibodies was found in six cases. Among the four other patients positive for AGA, investigations revealed one case of multiple sclerosis, one case of late-onset Friedreich ataxia, one case of basilar tuberculous meningitis and one case of type 2 diabetes. CONCLUSION: Screening for AGA presence should be systematically performed at presentation of patients with unknown etiology ataxia; in the event AGA are present without any other etiology, treatment with gluten-free diet must be discussed. However, the responsibility of AGA in the pathogenesis of neurological signs is highly debatable and further experimental work is required. Two pathophysiological hypotheses are suggested: (1) overexpression of cerebellar epitopes, in case of primary cerebellar pathology, leading to excessive immune response directed against these epitopes; and (2) molecular mimicry with cross-reactivity of antigens usually directed against gliadin, but also recognizing Purkinje cells epitopes.
Adult↗
Nuclear magnetic resonance diffusion with surface relaxation in porous media.
Nuclear magnetic resonance (NMR) diffusion simulations with surface relaxation were performed numerically in unconsolidated and consolidated porous media by a random walk technique. Two uniform and nonuniform models of surface relaxation were proposed and compared. The apparent diffusion coefficient and extinction function were determined and studied in the fast, slow and intermediate diffusion regimes of relaxation. According to theoretical predictions, it was observed that the extinction function does not depend on surface relaxivity parameter rho 2 in the slow diffusion regime. The apparent diffusion coefficients are independent of rho 2 in the fast diffusion regime and tend to be superposed onto a single curve in the slow one. The evolution of the apparent diffusion coefficients is gathered by a reduced representation in the fast diffusion regime.
Journal Article↗
[A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy].
INTRODUCTION: Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuro-endocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Material and method. We report the detailed phenotypic study in a series of 12 SBMA patients evaluated in four kindreds. RESULTS: Clinical phenotypic spectrum varied considerably, ranging from childhood-onset weakness and atrophy mimicking limb-girdle myopathy in patients with 53 CAG repeats to isolated hyperCKemia in an adult with 42 CAG repeats. All male patients had gynecomastia. Two female carriers presented with paresthesias and hand action tremor. Homozygous deletions of SMN1 and SMN2 genes were not found in any patients. CONCLUSION: This report demonstrates that SBMA may present with a wider clinical spectrum than previously described and suggests that clinical phenotype severity in SBMA is partially linked to the number of CAG repeats. It also suggests that SMN1 and SMN2 genes do not act as modifying genes in SBMA.
Adolescent↗
[Vogt-Koyanagi-Harada syndrome].
INTRODUCTION: Vogt-Koyanagi-Harada syndrome is a rare, inflammatory disease with manifestations affecting the ocular, central nervous, audito-vestibular, and integumentary systems. Vogt-Koyanagi-Harada syndrome is more frequent in Asia but is also described in Europe. We report three new non asiatic cases of this syndrome. OBSERVATIONS: The three patients had bilateral panuveitis and hypoacusia. Two of them had peripheral facial palsy, two of them had vestibular syndrome and one of them lymphocytic meningitis. In each case we found characteristic HLA II typing and in one case we discovered the simultaneous presence of three auto-antibodies: anti-retina (anti-Arrestin type), anti-choroid and anti-cochlea. These patients were treated by corticosteroids but required an additional treatment by cyclophosphamide (0.8g/m2). The clinical course was favorable with visual sequelae for two and auditory one for one. DISCUSSION: These biological and therapeutic elements and a review of the recent literature are in favor of an autoimmune origin of this syndrome.
Adult↗
[Impact of the law of the 4 March 2002 relative to patients' rights on request for medical information received in a medical dispatching center and mobile intensive care unit (Samu 93)].
INTRODUCTION: Law of the 4 March 2002 allowed patient's access to his medical record. This law could increase the number of requests in medical dispatching centers and prehospital intensive care units. OBJECTIVE: The aim of this study was to evaluate the impact of this law on the number of requests for medical information received in our unit. METHODS: Since the promulgation of the law, from March to December 2002, medical requests were prospectively collected and classified in categories including request for transmission of medical record. Requests received before the law, from January 2000 to February 2002 were classified according to the same items. Number of requests received during the two periods were compared according to the total number of medical record managed in our medical dispatching center and prehospital intensive care unit. RESULTS: The total number of requests for medical information significantly increased since the law of March 2002 (results are expressed as cases per month per 10 000 record: 4.8 +/- 2.5 vs. 8.0 +/- 4.5; p = 0.04). Specific request for transmissions of medical record significantly increased since the law (1.3 +/- 1.6 vs. 3.0 +/- 3.0; P = 0.046). This increase was progressive and constant since March 2002. DISCUSSION: Physicians and patients should take in consideration consequences of this law. Physician should be vigilant with the quality of their medical dossiers. Interpretation of this law and its ethics consequences will probably be discussed again as one should not exclude perverse impact of this law. In effect, insurances and mutual insurances companies could find in this law a way to obtain medical information, such as circumstances of death, previously unavailable. CONCLUSION: The law of 4 March 2002 relative to patients' rights significantly increased number of requests for medical information received in our dispatching center and prehospital intensive care unit.
Access to Information↗
[Acute relapse in Charcot-Marie-Tooth 1B neuropathy: can protein P0 behave like an autoantigen?].
INTRODUCTION: The natural history of Charcot-Marie-Tooth neuropathy is marked by accentuated motor and sensitive deficits suggestive of acute polyradiculoneuritis or, more generally, chronic inflammatory demyelinizing polyneuropathy. OBSERVATION: A 41-year-old woman, with Charcot-Marie-Tooth (CMT) 1B neuropathy associated with a P0 gene mutation, developed several episodes of ataxia which resolved after intravenous administration of IgG or corticosteroids. CONCLUSION: The sudden increase of a motor or sensitive deficit in this patient with CMT type I led to two hypotheses: chance association between an inherited and an inflammatory neuropathy, or a dysimmune inflammatory reaction, the mutated protein acting like an autoantigen. These two hypotheses are discussed.
Acute Disease↗
Phenotypic variability of aprataxin gene mutations.
The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.
Adult↗
[Epidemiology of SARS: mission of the emergency medical department of the French Hospital of Hanoi].
During the epidemic of severe acute respiratory syndrome (SARS) that occurred in Vietnam in March 2003, the French Ministries of Health and Foreign Affairs dispatched a mission composed of personnel from the emergency medical assistance department (French acronym, SAMU) and one virologist from the Pasteur Institute to the French hospital in Hanoi. The purpose of this mission was to reinforce the local medical staff, to bring medical equipment, and to assist in identifying the cause of the SARS epidemic. Most of the 39 cases observed involved health care personnel working at the hospital. Six including 5 who died presented severe manifestations. Application of strict empirical measures of isolation, hygiene, and personal protection allowed containment of the SARS outbreak in Hanoi.
Disease Outbreaks↗
[Digestive tract disorders revealing mitochondrial cytopathy: MNGIE syndrome].
Explore the source record for details and available documents.
Adult↗
[Emergency preparedness based on coherent integration of crisis response resources: workshop on mass casualty management in Bethlehem in June 1999].
In June 1999, the Humanitarian Action Division of the Foreign Affairs Department organized a training course on the mass casualty management within the framework of religious festivities related to the Bethlehem 2000 project. This initiative was undertaken at the request of the Palestinian Authority and the General Consulate of France in Jerusalem. Palestinian and French specialists in the field worked together in three workshops devoted to rescue, search and first aid; medical outposts and triage; and emergency and surgical care in referring hospitals.
Disaster Planning↗
Waterborne cryptosporidiosis outbreak, North Battleford, Saskatchewan, Spring 2001.
Explore the source record for details and available documents.
Adolescent↗
The neuroprotective activity of 8-alkylamino-1,4-benzoxazine antioxidants.
Antioxidant 8-alkylamino-1,4-benzoxazines, (R,S)-(3-tert-butyl-8-phenylethylamino-3,4-dihydro-2H-1,4-benzoxazin-5-yl) (phenyl) methanone (S 24429) and (R,S)-(3-cyclopentyl-8-benzylamino-3,4-dihydro-2H-1,4-benzoxazin-5-yl) (phenyl) methanone (S 24718), were prepared according to a two-step one-pot electrochemical procedure. These compounds had been selected from a previous study of structure/activity. Both compounds (1-100 microM) prevented the fall in ATP levels caused by 24 h of hypoxia in astrocytes. Both compounds (1 and 10 mg/kg i.p.) were powerful neuroprotective agents in protecting against the lesions induced by 15 microg S-bromo-willardiine injected into the cortex or white matter of 5-day old mice pups. In contrast, exifone, an antioxidant compound, was inactive at these doses. S 24429 and S 24718 appear to be novel neuroprotective agents, which are effective in a model of brain damage mimicking the lesions underlying cerebral palsy.
Adenosine Triphosphate↗
Surface nuclear magnetic relaxation and dynamics of water and oil in macroporous media.
Proton nuclear spin-relaxation studies on water- or oil-saturated granular packings and limestone rocks allow estimating surface molecular dynamical parameters. Measurements were performed at various conditions of temperature, magnetic field strengths, and pore size. We show by low field NMR relaxation that changing the amount of surface paramagnetic impurities leads to striking different pore-size dependences of the relaxation times T1 and T2 of liquids in pores. These dependences are well supported by surface-limited or diffusion-limited relaxation models. Surface relaxivity parameters rho(1) and rho(2) are deduced from the pore-size dependence in the surface-limited regime. We evidence the frequency and temperature dependence of the surface relaxivity rho(1) by field cycling NMR relaxation and relevant theoretical models. The typical frequency dependence found allows an experimental separation of the surface and bulk microdynamics in porous media. Several surface dynamical parameters, such as diffusion coefficients, activation energies, time of residence, and coefficient of surface affinity, were therefore determined. The methods presented here give a powerful analysis of the surface microdynamics of confined liquids, which can be applied to the study of oil-bearing rocks.
Journal Article↗
Coordination in childhood: modifications of visuomotor representations in 6- to 11-year-old children.
This research investigated the development of visuomotor coordination in childhood, more specifically the conversion of visual information into motor sequences. Three groups of children (aged 6, 8 and 11 years) and a group of adults performed pointing movements without direct feedback from their arm displacements. Visual information, provided by a video camera, was disturbed by rotations of 0 degree, 45 degrees, 90 degrees, 135 degrees or 180 degrees. Six-year-old children showed poor accuracy for 180 degrees rotations. These results suggest that the youngest children use unidirectional representations to convert visual information into motor sequences. At 8 years of age, children showed a shift from unidirectional to bidirectional representations, as reflected by reduced errors for 180 degrees rotations. Eleven-year-old children and adults showed the same type of representations, i.e., bidirectional. However, as reflected by their slower movement time and slower modifications in temporal accuracy across trials, the oldest children have not yet reached maturation in their adaptive process when compared to adults.
Adaptation, Physiological↗
[Measurement of carbon monoxide in expired breath in prehospital management of carbon monoxide intoxication].
INTRODUCTION: Carbon monoxide detectors are currently used by the French prehospital medical teams. These detectors can also be used to measure expired breath carbon monoxide concentration. The interest of this measurement has never been studied. OBJECTIVE: To evaluate interest of expired breath carbon monoxide concentration measurement in the management of prehospital carbon monoxide intoxication. STUDY DESIGN: Patients with carbon monoxide poisoning were included during 1998. PATIENTS AND METHODS: Four levels of clinical severity: no symptom, minor, medium or severe intoxication were defined. Carbon monoxide concentration were measured in the expired breath (COHbe) at the place of the intoxication and in blood samples collected at the place of the intoxication (COHbs) and at the hospital (COHbh). RESULTS: 209 patients were included, 144 had no symptom (55%), the value of COHbe was 11.6 +/- 7.5% (mean +/- DS) and the value of COHbh was 4.9 +/- 3.3%. 91 patients had minor intoxication (35%), the value of COHbe was 16.4 +/- 7.9% and the value of COHbh was 7.1 +/- 4.5%, 21 patients had sever or medium intoxication (8%) the value of COHbe was 26.4 +/- 17.7% and the the value of COHbh was 12.8 +/- 9.3%. Results for COHbh were obtained for only three patients. Relationship between symptoms and expired breath carbon monoxide and relationship between symptoms and carbon monoxide blood concentration on arrival at the hospital were significant (p < 0.05). CONCLUSION: Measurement of expired carbon monoxide concentration, easy and quick to perform is correlated with clinical severity in carbon monoxide poisoning.
Adult↗
Visual context and the control of movements through video display.
The aim of this experiment was to test the influence of target context on adaptation to scale perturbations introduced by a video display. Participants performed pointing movements without direct vision of their moving hand, although they could see their movements on a video display. Their perceived movements could be reduced, enlarged. or displayed at their actual size. Three target contexts were compared: dark surround, illuminated frame, and familiar object. Movements were executed with or without vision of hand displacement. Results showed that target context enhanced an allocentric coding of the movement, which improved movement execution. However, the effect of target context changed whether or not the displacement of the hand was available. Overall, the results suggest that target context allowed the extraction of dynamic information about movements, which is used to program and control movements. This suggests that target context could be used efficiently to improve spatial accuracy and speed in teleoperation learning. Potential applications include the reduction of difficulties encountered during teleoperation learning through the introduction of visual context.
Adolescent↗
Modulation of anticipatory postural adjustments in a reactive and a self-triggered mode in humans.
Five subjects raised their preferred arm until horizontal in one of two experimental conditions: (1) in response to a visual signal (reactive condition), and (2) in a self-triggered condition. In both conditions, subjects were instructed to execute the movement at approximately 80% of their maximal velocity, such that all movements were nearly similar. EMG activity was recorded in a focal muscle (Anterior Deltoidus) and in three postural muscles (ipsi-lateral Gastrocnemius, contra-lateral Tensor Fascia Latae and ipsi lateral Semitendinosus) known to be activated prior to the focal muscle. Results showed greater anticipatory postural adjustments in the self-triggered than in the reactive condition for the three postural muscles. It is suggested that similar intentional movements can be triggered by different timing strategies.
Adult↗