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Biomedical subjects

M Vidailhet

Publications and source records attributed to M Vidailhet.

At least 19 recordsLinked to original sources
PubMed2003

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular tachycardia and his neurological state worsened (Glasgow coma score 6). Blood analysis showed respiratory alkalosis, hyperlactacidemia (8 mmol/l), hyperammonemia (390 micro mol/l) and hypoglycaemia (2.4 mmol/l). Subsequently, he developed supraventricular tachycardia, ventricular tachycardia and ultimately ventricular fibrillation resulting in cardiac arrest, which was successfully treated. A CT scan of the head revealed cerebral oedema. Whilst in the intensive care unit, he developed renal failure and rhabdomyolysis. The metabolic abnormalities seen at the time of admission normalised within 48 h with IV glucose infusion. Biological investigations, including urinary organic acids and plasma acylcarnitines, showed results compatible with MCAD deficiency. Mutation analysis revealed the patient was homozygous for the classical mutation A985G. This is one of only a few reports of severe cardiac arrhythmia in an adult due to MCAD deficiency. This condition is probably under-diagnosed in adult patients with acute neurological and/or cardiac presentations.

Acyl-CoA Dehydrogenase↗
PubMed2003

[Movement disorders and botulinum toxin in neurology].

Botulinum toxin has been a useful treatment in many movement disorders and more recently in other non-neurological motor dysfunctions for more than 15 years. Here, we review the various indications in neurology, mainly in the field of movement disorders. From 1973 to 2002, we searched the Medline database on this topic. We selected the most useful and relevant papers, with a special interest in dystonia. We summarized the results in the main indications (spasmodic torticollis, bleparospasm, hemifacial spasm) and in other manifestations such as writer's cramp, oromandibular dystonia, tremor, tics and myoclonus. We discuss the data of literature and compare them with the experience of the French movement disorders groups.

Anti-Dyskinesia Agents↗
PubMed2003

[Feeding of infants based on age. Practice guidelines].

This paper presents practical guidelines for nutrition and feeding of infants and toddlers including vitamin D, vitamin K and fluoride supplementations and preventive measures at risk for food allergy based on family history.

Breast Feeding↗
PubMed2003

[National program for neonatal screening for cystic fibrosis: implementation and preliminary results].

Neonatal screening for cystic fibrosis was decided by the national medical authorities after a common investigation conducted by the French association ADPHE and national health insurance fund. Based on therapeutic progress and the proposed method using determination of blood immunoreactive trypsin then study of the main CF mutations, there is strong hope of effective CF detection and clinical benefit for the patients.

Cystic Fibrosis↗
PubMed2002

[Nutritional treatment of acute diarrhea in an infant and young child].

This paper written by the Comité de nutrition de la Société française de pédiatrie is specially devoted to the nutritional treatment of infant and child acute diarrhea, i.e. oral rehydration with salts solution and feeding. It complements an article on drug therapy of child acute diarrhea written by the Groupe francophone d'hépatologie, gastroentérologie et nutrition pédiatriques, and published in this same issue of the Archives de pédiatrie.

Acute Disease↗
PubMed2002

[Current topics in pediatric nutrition].

As main current topics in pediatric nutrition we have considered the results of the continuing research on the long term consequences of fetal malnutrition and intra-uterine growth retardation with the concept of metabolic imprinting leading to chronic disease in adulthood, the progresses of knowledge in the fields of iron metabolism and regulatory mechanisms of satiety, hunger and energetic balance, a better determination of recommended docosahexanoic and arachidonic acids intake in the first months of life for premature and term infants, and the studies on probiotics and prebiotics utilization for preventive and curative purposes. The concerns about vitamin D insufficiency in France have markedly decreased with the generalization ten years ago of cholecalciferol supplementation of infant formula, and more recently the authorization of dairy products supplementation. On the contrary the problem of iron deficiency in young children remains, as well as two major nutritional concerns: the very low percentage of breast-fed infants and the dramatic increase of childhood obesity which affects presently 14% of 10 year old children versus 5% in 1980.

Adolescent↗
PubMed2002

Transmission of group II heteronymous pathways is enhanced in rigid lower limb of de novo patients with Parkinson's disease.

A potent heteronymous excitation of quadriceps motoneurones via common peroneal group II afferents has recently been demonstrated in normal subjects. The aim of this study was to investigate whether this group II excitation contributes to rigidity in Parkinson's disease. The early and late facilitations of the quadriceps H reflex elicited by a conditioning volley to the common peroneal nerve (CPN) at twice motor threshold, attributed to non-monosynaptic group I and group II excitations, respectively, were investigated. The comparison was drawn between results obtained in 20 "de novo" patients with Parkinson's disease (hemiparkinsonian, 17; bilateral, three) and 20 age-matched normal subjects. There was no statistically significant effect of "group" (patients/controls), "duration", "global severity" [Unified Parkinson's Disease Rating Scale (UPDRS)] or "side" (unilaterally versus bilaterally affected) factors on either group I or group II facilitations. To further the analysis, the factors of status (affected or non-affected limb), akinesia (lower limb akinesia score) and rigidity (lower limb rigidity score) were entered in a general linear model to explain the variations of the quadriceps H reflex facilitation. Rigidity was the only factor useful in predicting the value of the group II facilitation of the quadriceps H reflex (P < 0.007). Group I and group II facilitation was then compared between the rigid, non-rigid and control lower limbs [multivariate analysis of variance (MANOVA)]. Results are represented as mean +/- SEM (standard error of the mean). Group II facilitation was enhanced in the rigid lower limb of unilaterally affected patients (153.2 +/- 7% of control H reflex) compared with non-rigid lower limbs (124 +/- 4% of control H reflex; P < 0.007) or control lower limbs (126.1 +/- 4.1%; P < 0.01). There was no difference between the non-rigid lower limbs of the unilaterally affected patients and the control lower limbs, but a difference was observed between the rigid lower limbs of unilaterally less affected and bilaterally more affected patients (153.2 +/- 7% and 123.8 +/- 7.5% of control H reflex, respectively; P < 0.04). These results suggest a facilitation of the transmission in the interneuronal pathway activated by group II afferents in rigid lower limb of de novo hemiparkinsonian patients, probably resulting from a change in their descending monoaminergic inhibitory control.

Adult↗
PubMed2002

[Dyskinesia caused by L-DOPA].

L-DOPA-induced dyskinesias are a common problem, occurring in about one third of parkinsonian patients after five years of treatment. Young age of onset, disease severity, duration of therapy and total dose of L-DOPA are the variables that best correlate with the development of dyskinesias. The first manifestations of dyskinesia are usually dystonic and involve the foot homolateral to the side most affected by Parkinson's disease. With time, dyskinesias may be classified in three main categories: off dystonia, diphasic dyskinesias also called "onset and end of dose dyskinesia" and peak dose dyskinesia. Although this classification is very useful in clinical practice, the different types of dyskinesia frequently overlap in a single patient when the disease progresses. Other types of involuntary movements such as myoclonus, a tremor with an increased amplitude and akathisia have been described. The physiopathology of L-DOPA-induced dyskinesias remains unclear but synaptic plasticity in striatal neurons seems to be a major phenomenon in the development of dyskinesias. Some rating scales have been developed to assess the intensity and severity of dyskinesias but their usefulness is still matter of debate.

Antiparkinson Agents↗
PubMed2001

Clinical characteristics and topography of lesions in movement disorders due to thalamic lesions.

OBJECTIVE: To determine which thalamic subnuclei are involved in symptomatic unilateral movement disorders due to localized thalamic infarction, and the clinical characteristics of these abnormal movements. METHODS: The authors studied 22 patients with thalamic infarcts for their clinical presentation and the topography of the lesions, using three-dimensional T1-weighted MRI sequencing and stereotaxic analysis of the lesions. RESULTS: Patients were divided into four groups: 1) absence of abnormal involuntary movements (AIM) (nine patients); 2) isolated dystonic posture (two patients); 3) myoclonic dystonia (five patients); and 4) tremor or myoclonus (six patients). In patients with AIM, thalamic lesions were contralateral to the abnormal movements, involving the thalamogeniculate territory, centered on the ventral intermediate (Vim) and ventral caudal (Vc) nuclei. No significant difference in the volumes or center of mass of the lesions was found between patients with tremor and myoclonus and patients with dystonia, although the central nucleus and the internal part of the Vim nucleus were more consistently damaged in dystonic patients. CONCLUSION: Movement disorders related to thalamic lesions included: 1) myoclonic dystonia with predominating myoclonus and "thalamic" hand associating dystonic posture and slow, pseudo-athetoid movements, both related to lesions in the Vim and Vc nuclei of the thalamus; and 2) postural and action tremor, also related to lesions in the Vim, similar to tremor associated with midbrain lesions, as a result of abnormal functioning of the cerebello-thalamic pathways.

Aged↗
PubMed2001

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

Myoclonus--dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes.

Adult↗
PubMed2001

Human brain mapping in dystonia reveals both endophenotypic traits and adaptive reorganization.

Dystonia has a wide clinical spectrum from early-onset generalized to late-onset sporadic, task-specific forms. The genetic origin of the former has been clearly established. A critical role of repetitive skilled motor tasks has been put forward for the latter, while underlying vulnerability traits are still being searched for. Using magnetoencephalography, we looked for structural abnormalities reflecting a preexisting dysfunction. We studied finger representations of both hands in the primary sensory cortex, as compared in 23 patients with unilateral task-specific dystonia and 20 control subjects. A dramatic disorganization of the nondystonic hand representation was found in all patients, and its amount paralleled the severity of the dystonic limb motor impairment. Abnormalities were also observed in the cortex coding the dystonic limb representation, but they were important only in the most severely affected patients. The abnormal cortical finger representations from the nondystonic limb appear to be endophenotypic traits of dystonia. That finger representations from the dystonic limb were almost normal for the less severely affected patients may be due to intrinsic beneficial remapping in reaction against the primary disorder.

Adaptation, Physiological↗
PubMed2001

Idazoxan, an alpha-2 antagonist, and L-DOPA-induced dyskinesias in patients with Parkinson's disease.

Dyskinesia is a frequent and disabling side effect in patients with Parkinson's disease treated with chronic dopa-therapy. Preclinical data in the 1-methyl-4-phenyl-1,2,3,6,-tetrahydropyridine (MPTP) monkey suggest that alpha-2 antagonists may reduce dihydroxyphenylalanine (L-DOPA)-induced dyskinesia. We assessed, in a pilot randomised placebo-controlled study, the effects of single oral doses (10 mg, 20 mg, and 40 mg) of idazoxan, an alpha-2 antagonist, on motor parkinsonian disability and L-DOPA-induced dyskinesia following an acute oral challenge of L-DOPA in 18 patients with Parkinson's disease. The severity of L-DOPA-induced dyskinesia improved after 20 mg idazoxan pretreatment, while there was no concommittant deterioration in the antiparkinsonian response to L-DOPA. These results suggest that blocking alpha-2 receptors in patients with Parkinson's disease might improve L-DOPA-induced dyskinesia without the cost of a return of parkinsonian symptomatology. Further studies are required to assess whether this property could have potential therapeutic applications in the long-term management of dyskinetic patients with Parkinson's disease.

Administration, Oral↗
PubMed2001

Fast orthostatic tremor in Parkinson's disease mimicking primary orthostatic tremor.

Leg tremor during standing is a rare feature in idiopathic Parkinson's disease (PD). Tremor during standing usually has a low frequency (range, 4-6 Hz), similar to PD rest tremor frequency, and is improved by levodopa. We describe three cases of fast orthostatic tremor (FoT) of legs and trunk mimicking primary orthostatic tremor (OT) in patients treated with levodopa for PD. Asymmetrical akinetorigid syndrome was accompanied by a rest tremor in two cases. We obtained electrophysiological parameters by electromyographic (EMG) polygraphic recording after 16 hours withdrawal of antiparkinsonian treatment and at the maximal effect of levodopa in order to investigate the effect of dopaminergic stimulation upon such cases of orthostatic tremor in PD. Electrophysiological parameters of orthostatic tremor, especially frequency (range 14-18 Hz), were similar to that seen in POT. Severity of tremor was independent of seriousness and duration of PD. Levodopa had no effect either on the handicap due to OT or on the amplitude and frequency of the EMG OT activity. In contrast, mild improvement of OT was obtained with benzodiazepines in two cases and parkinsonian syndrome was levodopa-sensitive. These findings suggest that FoT in PD would not be directly controlled by the dopaminergic system. However, increased rhythmicities in basal ganglia or in cerebello-thalamic loops at the rapid frequencies range seen in PD could favor the emergence of a primary orthostatic tremor-like tremor in PD patients.

Aged↗