•Myoclonus dystonia related to epsilon sarcoglycan mutations presents a wide range of symptoms in location and severity of dystonia and myoclonus.•Mood disorders and non-motor symptoms, although ...frequent may no by present in all patients.•Phenomenology and careful clinical evaluation with precise description of symptoms is very important in any type of dystonia to better understand the pathophysiology and expand the genotype/phenotype knowledge.
Early origins of adult disease Simeoni, U; Bocquet, A; Briend, A ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie
23, Številka:
5
Journal Article
Un premier paragraphe est consacré au rappel du métabolisme des acides gras des séries
n–6 (ω6) et
n–3 (ω3), aux eicosanoïdes qui en dérivent (prostaglandines, leucotriènes, thromboxanes), aux ...fonctions physiologiques dans lesquelles ils sont impliqués, en particulier dans les aspects propres à la grossesse (comme leur effet bénéfique possible dans la croissance fœtale, la prévention de l'hypertension artérielle gravidique, celle du déclenchement prématuré de l'accouchement). L'accent est ensuite porté sur le rôle majeur des acides gras polyinsaturés à longue chaîne (AGPI–LC), en particulier du DHA (acide docosahexaénoïque), dans les structures membranaires du système nerveux central et de la rétine, le développement cérébral et rétinien, le transfert maternofœtal massif de ces AGPI–LC durant le troisième trimestre de la grossesse, l'importance d'un apport suffisant de DHA chez la femme enceinte, puis chez le prématuré, soit par le lait maternel, soit par un lait supplémenté en AGPI–LC. Chez le prématuré, ces deux laits préviennent la baisse du DHA dans les phospholipides sanguins et cérébraux et corrigent les défauts de maturation de l'acuité visuelle et des capacités cognitives qui l'accompagnent, comme en témoigne l'efficacité des études interventionnelles conduites de façon contrôlée et randomisée. L'importance d'une supplémentation suffisante en acide arachidonique (AAR : 20 : 4
n–6), lors des supplémentations en DHA, a été confirmée par les effets négatifs sur la croissance somatique de supplémentations utilisant les huiles de poisson apportant des AGPI–LC ω3, sans apport proportionné en AAR. L'acide eicosapentaénoïque (EPA) pouvant également jouer un rôle négatif, la source de supplémentation la mieux adaptée aujourd'hui paraît être les huiles obtenues à partir d'algues unicellulaires et de champignons microscopiques assurant une supplémentation spécifique en DHA et en AAR. Chez le nourrisson né à terme, les arguments en faveur d'une supplémentation en AGPI–LC sont également importants. Les résultats contradictoires des études interventionnelles (dont les explications tiennent peut-être à des différences de protocole, d'âge, de durée d'intervention, de sensibilité des méthodes d'évaluation ou aux sources d'AGPI–LC utilisées) font que la justification d'une supplémentation en AGPI–LC fait encore l'objet de discussions. Depuis 1996, un amendement à la Directive européenne sur les formules pour nourrissons et les formules de suite a permis la mise sur le marché de laits pour nourrissons et de laits de suite enrichis en AGPI–LC, en particulier DHA et AAR, en précisant les limites à respecter. Un point également important est la recommandation faite aux femmes enceintes et allaitantes d'assurer une consommation suffisante d'aliments sources de DHA en raison de leurs besoins accrus pour leur bébé et pour elles-mêmes.
This paper starts with a review of the metabolism of
n–6 (ω6) and
n–3 (ω3) fatty acids, the resulting eicosanoids (prostaglandins, leucotrienes, and thromboxanes), and the physiological functions they are involved in, with special emphasis on effects during pregnancy (such as possible benefits on fetal growth, prevention of hypertension of pregnancy, and prevention of premature labor). Attention is then turned to the key role for long-chain polyunsaturated fatty acids (LCPUFAs), most notably docosahexaenoic acid (DHA), in central nervous system and retinal cell membrane structure and in cerebral and retinal development. Massive maternofetal transfer of LCPUFAs occurs during the third trimester of pregnancy, so that maintaining an adequate intake of DHA during pregnancy is crucial. Preterm babies must receive sufficient amounts of DHA, either via breast milk or via formula supplemented with LCPUFAs, both of which prevent DHA levels from declining in blood and cerebral phospholipids. These two methods of achieving an adequate DHA intake ensure normal maturation of visual acuity and cognitive function, as shown by randomized controlled trials. Formula supplemented with fish oils rich in
n–3 LCPUFAs but lacking a proportionate supply of arachidonic acid (ArA, 20: 4
n–6) negatively affects somatic growth, confirming the need for an adequate ArA supply. Eicosapentaenoic acid (EPA) can also exert negative effects. Therefore, the best source of supplemental LCPUFAs may be oil from single-cell algae and microscopic fungi, which contains adequate amounts of DHA and ArA. In full term neonates, strong arguments support LCPUFA supplementation, despite continuing controversy generated by conflicting results from interventional studies. These discrepancies in study results may be ascribable to differences in study design, patient age, intervention duration, assessment tool sensitivity, and LCPUFA sources. In 1996, an amendment to the European Directive on infant formulas and follow-on formulas was developed to authorize LCPUFA supplementation and to specify appropriate ranges. As a result, formulas supplemented with DHA and ArA were introduced on the market. Pregnant and nursing women should be advised to maintain an adequate dietary intake of DHA in order to meet their increased needs and those of the fetus or infant.
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. ...Eligible studies were identified after a systematic literature review of the effects of bilateral GPi‐DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta‐regression. In total, 24 studies were included in the meta‐analysis, comprising 523 patients. The mean absolute and percentage improvements in BFMDRS motor score at the last follow‐up (mean 32.5 months; 24 studies) were 26.6 points 95% confidence interval (CI), 22.4–30.8 and 65.2% (95% CI, 59.6–70.7), respectively. The corresponding changes in disability score at the last follow‐up (mean 32.9 months; 14 studies) were 6.4 points (95% CI, 5.0–7.8) and 58.6% (95% CI, 50.3–66.9). Multivariate meta‐regression of absolute scores indicated that higher BFMDRS motor and disability scores before surgery, together with younger age at time of surgery, were the main factors associated with significantly better DBS outcomes at the latest follow‐up. Reporting of safety data was frequently inconsistent and could not be included in the meta‐analysis. In conclusion, patients with isolated inherited or idiopathic dystonia significantly improved after GPi‐DBS. Better outcomes were associated with greater dystonia severity at baseline. These findings should be taken into consideration for improving patient selection for DBS.
Several new MR imaging techniques have shown promising results in patients with Parkinson disease; however, the comparative diagnostic values of these measures at the individual level remain unclear. ...Our aim was to compare the diagnostic value of MR imaging biomarkers of substantia nigra damage for distinguishing patients with Parkinson disease from healthy volunteers.
Thirty-six patients and 20 healthy volunteers were prospectively included. The MR imaging protocol at 3T included 3D T2-weighted and T1-weighted neuromelanin-sensitive images, diffusion tensor images, and R2* mapping. T2* high-resolution images were also acquired at 7T to evaluate the dorsal nigral hyperintensity sign. Quantitative analysis was performed using ROIs in the substantia nigra drawn manually around the area of high signal intensity on neuromelanin-sensitive images and T2-weighted images. Visual analysis of the substantia nigra neuromelanin-sensitive signal intensity and the dorsolateral nigral hyperintensity on T2* images was performed.
There was a significant decrease in the neuromelanin-sensitive volume and signal intensity in patients with Parkinson disease. There was also a significant decrease in fractional anisotropy and an increase in mean, axial, and radial diffusivity in the neuromelanin-sensitive substantia nigra at 3T and a decrease in substantia nigra volume on T2* images. The combination of substantia nigra volume, signal intensity, and fractional anisotropy in the neuromelanin-sensitive substantia nigra allowed excellent diagnostic accuracy (0.93). Visual assessment of both substantia nigra dorsolateral hyperintensity and neuromelanin-sensitive images had good diagnostic accuracy (0.91 and 0.86, respectively).
The combination of neuromelanin signal and volume changes with fractional anisotropy measurements in the substantia nigra showed excellent diagnostic accuracy. Moreover, the high diagnostic accuracy of visual assessment of substantia nigra changes using dorsolateral hyperintensity analysis or neuromelanin-sensitive signal changes indicates that these techniques are promising for clinical practice.
Vitamin D requirements for french children Vidailhet, M; Garabédian, M
Archives de pédiatrie : organe officiel de la Société française de pédiatrie
17, Številka:
6
Journal Article
Background
A Task Force was convened by the EFNS/MDS‐ES Scientist Panel on Parkinson's disease (PD) and other movement disorders to systemically review relevant publications on the diagnosis of PD.
...Methods
Following the EFNS instruction for the preparation of neurological diagnostic guidelines, recommendation levels have been generated for diagnostic criteria and investigations.
Results
For the clinical diagnosis, we recommend the use of the Queen Square Brain Bank criteria (Level B). Genetic testing for specific mutations is recommended on an individual basis (Level B), taking into account specific features (i.e. family history and age of onset). We recommend olfactory testing to differentiate PD from other parkinsonian disorders including recessive forms (Level A). Screening for pre‐motor PD with olfactory testing requires additional tests due to limited specificity. Drug challenge tests are not recommended for the diagnosis in de novo parkinsonian patients. There is an insufficient evidence to support their role in the differential diagnosis between PD and other parkinsonian syndromes. We recommend an assessment of cognition and a screening for REM sleep behaviour disorder, psychotic manifestations and severe depression in the initial evaluation of suspected PD cases (Level A). Transcranial sonography is recommended for the differentiation of PD from atypical and secondary parkinsonian disorders (Level A), for the early diagnosis of PD and in the detection of subjects at risk for PD (Level A), although the technique is so far not universally used and requires some expertise. Because specificity of TCS for the development of PD is limited, TCS should be used in conjunction with other screening tests. Conventional magnetic resonance imaging and diffusion‐weighted imaging at 1.5 T are recommended as neuroimaging tools that can support a diagnosis of multiple system atrophy (MSA) or progressive supranuclear palsy versus PD on the basis of regional atrophy and signal change as well as diffusivity patterns (Level A). DaTscan SPECT is registered in Europe and the United States for the differential diagnosis between degenerative parkinsonisms and essential tremor (Level A). More specifically, DaTscan is indicated in the presence of significant diagnostic uncertainty such as parkinsonism associated with neuroleptic exposure and atypical tremor manifestations such as isolated unilateral postural tremor. Studies of 123IMIBG/SPECT cardiac uptake may be used to identify patients with PD versus controls and MSA patients (Level A). All other SPECT imaging studies do not fulfil registration standards and cannot be recommended for routine clinical use. At the moment, no conclusion can be drawn as to diagnostic efficacy of autonomic function tests, neurophysiological tests and positron emission tomography imaging in PD.
Conclusions
The diagnosis of PD is still largely based on the correct identification of its clinical features. Selected investigations (genetic, olfactory, and neuroimaging studies) have an ancillary role in confirming the diagnosis, and some of them could be possibly used in the near future to identify subjects in a pre‐symptomatic phase of the disease.
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