[Nutritional needs in the normal adolescent].
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Adolescent↗
Biomedical subjects
M Vidailhet
Publications and source records attributed to M Vidailhet.
Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa.
BACKGROUND: Thyroid hormones, riboflavin, riboflavin cofactors, and organic acids were assessed in girls with anorexia nervosa. OBJECTIVE: The objective was to examine the effect of malnutrition and low thyroid hormone concentrations on erythrocyte and plasma riboflavin metabolism and their relation with urinary organic acid excretion. DESIGN: Seventeen adolescent girls with anorexia nervosa [body mass index (BMI; in kg/m2): 14.8 +/- 2.2] and 17 age-matched, healthy girls (control subjects; BMI: 20.5 +/- 2.2) took part in the feeding study. Erythrocyte and plasma riboflavin as well as riboflavin cofactors (flavin mononucleotide and flavin adenine dinucleotide) were assessed by HPLC, whereas urinary organic acids were assessed by gas chromatography-mass spectrometry. RESULTS: Anorectic patients who began a feeding program had higher erythrocyte riboflavin (3.5 +/- 2.2 compared with <0.1 nmol/mol hemoglobin; P < 0.001), lower plasma flavin adenine dinucleotide (57.8 +/- 18.5 compared with 78.5 +/- 54.3 nmol/L; P < 0.05), and higher urinary ethylmalonic acid (7.12 +/- 4.39 compared with 1.3 +/- 2.8 micromol/mmol creatinine; P < 0.001) and isovalerylglycine (7.65 +/- 4.78 compared with 3.8 +/- 0.9 micromol/mmol creatinine; P < 0.05) concentrations than did control subjects. Triiodothyronine concentrations were low and negatively correlated with plasma riboflavin concentrations (r = -0.69, P < 0.01). Not all patients showed improvements in these biochemical indexes after 30 d of refeeding. CONCLUSIONS: The low triiodothyronine concentrations observed in anorexia nervosa could alter the extent of riboflavin conversion into cofactors, thus leading to high erythrocyte riboflavin concentrations, low plasma flavin adenine dinucleotide concentrations, and high rates of ethylmalonic acid and isovalerylglycine excretion.
Absorptiometry, Photon↗
DYT1 mutation in French families with idiopathic torsion dystonia.
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population.
Adolescent↗
Saccades and antisaccades in parkinsonian syndromes.
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Electrooculography↗
The phenomenology of L-dopa-induced dyskinesias in Parkinson's disease.
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Animals↗
[Neurologic manifestations of Behçet's disease].
Neurological involvement in Behçet's disease, the cause of the disease's severe functional sequellae, is reported in 5.3 to 30% of cases. Coagulation disorders have been reported but they cannot explain the different thrombotic manifestations which are probably the consequence of an abnormal response of the vascular endothelial cells. Neurological manifestations include: a) dural sinus thrombosis which can be diagnosed by angio-MRI and whose prognosis is improved with the use of anticoagulants; b) exceptional lesions to arteries supplying the brain; c) aseptic meningitis and meningo-encephalitis; and d) exceptionally, solitary spinal cord involvement and peripheral disease. Neurological involvement can occur early or late after development of skin and mucosal signs and when inaugural make mislead diagnosis. The spinal tap usually gives objective evidence of lymphocyte meningitis. MRI is nonspecific, but the T2 and Flair sequences can evidence hypersignal areas, preferentially in the brain stem, basal nuclei, and subtentorial white matter with no preference for the periventricular regions. Spontaneous aggravation is the rule and the neurological prognosis is severe (dementia, pseudo-bulbar syndrome, loss of independence). Treatment is similar to that used for vasculitis and is aimed initially at reducing the inflammation with corticosteroids and at preventing relapse with the adjunction of an immunosuppressor. Results are better when treatment begins early; restitutio ad integrum has been observed. Duration of treatment is poorly defined: immunosuppressors have been proposed for a minimal duration of 2 years; corticosteroid therapy can be tapered off but interruption would expose to relapse. A maintenance therapy is advisable and, in our opinion, should be proposed indefinitely combining colchicine (1 to 2 mg/d), anti-aggregate doses of aspirin, and low-dose corticosteroids (1/10 mg/kg/d).
Behcet Syndrome↗
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Two novel point mutations in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene were found in a French patient with double heterozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by reverse transcriptase-polymerase chain reaction of the mRNA using five different pairs of oligonucleotides produced no differences in the fragments amplified with respect to the control. Single-strand conformation polymorphism analysis showed that only one amplified fragment was different in the patient vs. control. Sequencing of the amplified fragments showed two missense point mutations, A698G and T788C, each of them mixed with the wild-type sequence. These mutations produced the changes H233R and L263P, leading to changes in the enzyme activity, which was largely abolished. The father and one brother of the proband were heterozygous for the L263P mutation and the mother and one daughter were heterozygous for the H233R mutation, which confirms the double-heterozygous character of the patient. Another sibling was free of the mutations. An enzymatic restriction analysis has been proposed to screen the occurrence of these two mutations in future patients.
Alleles↗
Somatotopical organization of striatal activation during finger and toe movement: a 3-T functional magnetic resonance imaging study.
The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/extension of the right fingers or toes. Motor activation was found mainly in the putamen posterior to the anterior commissure (10 of 10 subjects) and the globus pallidus (6 subjects), whereas the caudate nucleus was activated in only 3 subjects, and in a smaller area. Thus, performance of a simple motor task activated the sensorimotor territory of the basal ganglia. Within the putamen, there was a somatotopical organization of the foot and hand areas similar to that observed in nonhuman primates. These data suggest that functional magnetic resonance imaging can be used to study normal function of the basal ganglia and should therefore also allow investigation of patients with movement disorders.
Adult↗
An akinetic-rigid syndrome, depression, and stereotypies in a young man.
A young man is presented who developed an akinetic-rigid syndrome shortly after a minor illness. Rituals and stereoptypies were prominent. At its most severe he was unable to feed himself. There was no response to L-dopa/cardopa treatment. A course of ECT was followed by a marked improvement in his condition. Attempts to stop ECT for more than a week have led to recurrence of his bradykinesia.
Adult↗
Deep brain stimulation in Parkinson's disease: opposite effects of stimulation in the pallidum.
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Antiparkinson Agents↗
Pathology of symptomatic tremors.
Symptomatic tremors are labeled in the literature under different names including rubral tremor, midbrain tremor, thalamic tremor, myorhythmia, Holmes' tremor, cerebellar tremor, and goal-directed tremor. The most common tremor is a delayed-onset postural and action tremor with a low frequency of 3 Hz and a proximal distribution. Resting irregular tremor is sometimes present. Mild cerebellar dysmetria is often detected. The lesions are mainly located in the thalamus, the brain stem, and the cerebellum, with secondary interruption and degeneration of various pathways and olivary hypertrophy. The more consistent lesions are found in the cerebello-thalamo-cortical and dentato-rubro-olivary pathways. The role of superimposed dysfunction of the nigrostriatal system may account for the rest component. The role of the basal ganglia in the emergence and control of tremor is poorly understood.
Cerebellum↗
Pulmonary evolution of cystic fibrosis patients colonized by Pseudomonas aeruginosa and/or Burkholderia cepacia.
UNLABELLED: We analysed the pulmonary evolution (radiological scores and pulmonary function) of 81 cystic fibrosis (CF) patients colonized by Pseudomonas aeruginosa (PA), by Burkholderia cepacia (BC) or by both these bacteria, compared to a control group. Pulmonary function was compared in the age bracket 6-13 years. Functional vital capacity (FVC) and forced expiratory volume (FEV1) values for PA colonized patients were significantly worse than for the control group but better than for children colonized by both organisms. In this last group, the evolution of radiological scores and pulmonary function showed a greater decline 2 years after the first colonization compared to the other groups. FVC and FEV1 values in patients colonized by BC were not worse than these of patients colonized by PA. Moreover, BC affected older patients with advanced lung disease and often previously colonized with PA. These results suggested that co-colonization by PA and BC could be a more deleterious factor on the pulmonary evolution than the isolated colonization by PA or BC, and that BC could be a severity marker rather than a cause. In addition, after starting the utilization of mouthpieces with filter at single use for spirometry in 1993 (without any other change in preventive measures already taken during hospitalization), incidence of BC decreased from 8.2% to zero, and no new case of BC colonization has been observed over the last 4 years. CONCLUSION: Co-colonization of CF patients by PA and BC is more deleterious for pulmonary evolution than colonization by one of these bacteria alone. Re-inforcement of environmental measures during hospitalization (e.g. use of disposable mouthpieces for spirometry) was sufficient to reduce the transmission of BC.
Adolescent↗
Is impaired memory for spatial location in Parkinson's disease domain specific or dependent on 'strategic' processes?
Spatial memory has been found to be impaired in Parkinson's disease (PD). To determine the nature of the deficit, we compared the performance of'standard' levodopa-treated patients with PD to that of matched control subjects in different situations: (i) spatial versus verbal conditional associative learning; (ii) 'global' versus 'local' contextual encoding; (iii) pattern span and related supraspan learning. The relationship between dopaminergic depletion, which characterizes the disease, and the impaired memory processes was investigated by comparing the performance of 'de novo' not yet treated PD patients to that of matched control subjects. Both groups of PD patients were impaired in all situations requiring strategic processes, shared a decreased pattern span and had a normal visuospatial learning once the pattern span was taken into account. All these results suggest that the memory deficit for spatial location observed in PD results mainly from a disturbance of strategic processes and from decreased attentional resources, which may be due, at least in part, to the dopaminergic depletion and related striatofrontal dysfunction.
Aged↗
[Pseudotumorous presentation of neuro-Behçet: role of the withdrawal of colchicine?].
BACKGROUND: Neurological involvement occurs in 10 to 28% of patients with Behçet's disease. CASE REPORT: We report a case of neurological pseudotumoral presentation of Behçet's in a patient with a long standing disease treated with low dose of prednisone and colchicine (1 mg/day), 2 months after withdrawal of colchicine. CONCLUSION: Neurological manifestations during Behçet disease can be secondary to direct central nervous system involvement (encephalitis, encephalomyelitis) or vascular angitis (essentially cerebral venous thrombosis and, rarely, intracranial aneurysms). Neurological pseudotumoral presentation is rarely reported.
Anti-Inflammatory Agents↗
[Respiratory evolution of patient with mucoviscidosis treated with mucolytic agents plus dornase alfa].
AIM: Modifications of bronchial secretions in cystic fibrosis patients account for the long-lasting use of mucolytic agents, despite the lack of adequately controlled clinical studies supporting this approach. Hyperviscosity of bronchial secretions mainly depend on their high DNA content, as a result of degradation of polymorphonuclear neutrophils mobilized by infection and inflammation. This phenomenon has led to the treatment of respiratory complications with human recombinant deoxyribonuclease (dornase alfa). In the present study, we compared the clinical and respiratory outcome in patients receiving mucolytic agents followed by dornase alfa, each for 1 year. POPULATION AND METHODS: Fifty-four patients, aged 5 years or more, have been prospectively followed for 2 years. They received first a 12-month association of mesna (two nebulisations per day) and oral ambroxol (60 mg per day, divided in two doses), followed by a 12-month treatment with one daily aerosol of dornase alfa only (2.5 mg per day). The primary end-points were the results of pulmonary function tests. Secondary end-points were subjective symptoms, bacterial colonization, consumption of antibiotics, and clinical tolerance. RESULTS: At the end of the 12-month mucolytic therapy, a significant decrease of forced expiratory volume/second (FEV1, -10.5% as compared to baseline values) and forced vital capacity (FVC, -12.8%) was observed. At the end of 12-month dornase alfa, FEV1 and FVC had increased by 7.7 and 5.3%, respectively. This change was statistically significant only for FEV1 in most severely disabled patients. However, forced expiratory flow 25-75% (FEF 25-75) decreased during the 2 year period of observation, by 5.6% the first year and 4.9% the second year. The mean number of days with parenteral antibiotics did not statistically differ between both treatments, except for patients more than 15 years of age. In this subgroup, the mean number decreased from 40 days in the first year to 27 in the second year (P < 0.05). Acceptability of treatment by the patients themselves was better with dornase alfa than with mucolytic therapy. However, several episodes of hemoptysis, frequent in only one case, were associated with the treatment by dornase alfa. CONCLUSION: Dornase alfa was associated with a stabilisation, and even a trend to improvement in pulmonary function tests. This stabilisation is by itself a very encouraging result. Long-term comparative studies are needed to evaluate the benefits of dornase alfa in the treatment of respiratory complications of cystic fibrosis and specify the optimal modalities of its use. Synergistic combinations with mucolytic therapy and/or anti-inflammatory drugs could be viewed as a future prospect.
Adolescent↗
[Protein and energy needs of the infant with severe malnutrition. Application in a hospital environment for the treatment of malnutrition caused by deficient intake].
Severe malnutrition is defined by a weight for height below 70% of international standards or by presence of oedema in a clinically undernourished child. Severe malnutrition associated with oedema is called kwashiorkor. The origin of oedemas of kwashiorkor is still debated, but its relation with protein deficiency is strongly questioned. The same dietary management is now recommended for malnutrition with or without oedema. Present recommendations are based, as for well nourished children, on the separate estimation of nutritional requirements for maintenance and growth. Total requirements vary between 0.7 g/kg/day in the first few days of treatment to 5 g/kg/day or more when weight gain is maximum. As a result of high energy requirement during catch-up growth, protein requirements never exceed 10 to 12% of total energy needs.
Child Nutrition Disorders↗
Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
The gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2-27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis provided a conditional probability in favor of linkage of >.9 in eight families, which were analyzed further with eight microsatellite markers spanning the 17-cM AR-JP region. Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM. If the deletion of two microsatellite markers (D6S411 and D6S1550) that colocalize on the genetic map and that segregate with the disease in the Algerian family is taken into account, the candidate region would be reduced to <1 cM. These findings should facilitate identification of the corresponding gene. We have confirmed linkage of AR-JP, in European families and in an Algerian family, to the PARK2 locus. PARK2 appears to be an important locus for AR-JP in European patients. The clinical spectrum of the disease in our families, with age at onset <=58 years and the presence of painful dystonia in some patients, is broader than that reported previously.
Age of Onset↗
Overactivity of cervical premotor neurons in Parkinson's disease.
OBJECTIVES: Cortical command to upper limb motor neurons is transmitted, in humans, not only through the monosynaptic corticomotor neuronal pathway, but also through cervical premotor neurons. Whether activity in this non-monosynaptic corticospinal pathway is modified in Parkinson's disease was explored. METHODS: Ongoing EMG activity recorded in wrist extensors during tonic extension of the wrist is suppressed by a volley evoked by stimulating the superficial radial nerve. It has been shown that this cutaneous induced suppression is due to inhibition of transmission of the cortical command at a premotor neuronal level. By comparing the cutaneous induced EMG depression between 45 de novo parkinsonian patients and 23 age matched controls it has been possible to appreciate if and to what extent the "non-monosynaptic" part of the cortical command is modified in these patients. RESULTS: At the early stage of the illness the EMG depression, reflecting the "non-monosynaptic" part of the cortical command, was bilaterally increased despite very asymmetric clinical status. When the duration of the disease was more than 36 months, EMG depression returned to its control level. No correlation was found between the amount of the EMG depression and parkinsonian symptoms before and after levodopa treatment. CONCLUSION: Increase of the relative "non-monosynaptic" part of the cortical command could reflect a compensatory motor mechanism elaborated upstream from the motor cortex.
Antiparkinson Agents↗