Le syndrome de Rett une maladie neurologique lourde 2608

Dr Moussayer khadija, 2 y.

- Health -

2.5 min read.

Le syndrome de Rett est une maladie neurologique d’origine génétique. Il atteint quasi-exclusivement le sexe féminin en apparaissant entre 6 et 24 mois après la naissance. Pathologie très handicapante, le syndrome de Rett conduit à des déficiences physiques et intellectuelles graves, affectant presque tous les aspects de la vie quotidienne de l’enfant que ce soit sa capacité à parler, à marcher, à manger, à bouger les yeux … ou même à respirer facilement. L’enfant continue cependant à comprendre et à communiquer son humeur et son émotion à sa façon. UN HANDICAP LOURD, PRECOCE ET PROGRESSIF Le syndrome de Rett apparaît en général entre les 6 et 24 premiers mois de vie de la petite fille. Le développement psychique et moteur s’altère progressivement. De façon typique, la petite fille se frotte et tord ses mains de manière répétitive ; son intérêt pour son environnement se perd que ce soit à l’égard des personnes ou des objets. Ce tableau se complique souvent de crises d’épilepsie puis de l’apparition d’une scoliose. L’enfant peut vivre pendant des années, voire des dizaines d’années. La maladie n’est pas en effet mortelle, mais ce sont les nombreuses complications, surtout cardiorespiratoires et nutritionnelles, qui raccourcissent l’espérance de vie de ces petites filles. UNE GESTION MULTIDISCIPLINAIRE DE LA MALADIE Il n’existe pas de traitement pour le syndrome de Rett, la prise en charge se basant sur la gestion des symptômes. Il faut maintenir la mobilité du malade, prévenir les déformations squelettiques et conserver de bonnes positions par des appareillages portés jour et/ou nuit. Le maintien d’une certaine qualité de vie implique aussi la mobilisation équipes pluridisciplinaires comprenant, outre les médecins, des kinésithérapeutes, psychomotriciens, ergothérapeutes, diététiciens… Des traitements symptomatiques doivent par ailleurs être prescrits afin de soulager les différentes manifestations respiratoires, cardiovasculaires et les crises convulsives. PRISE EN CHARGE DES TROUBLES DE LA COMMUNICATION Les fillettes malades sont privées de communication verbale. Il faut alors essayer de comprendre ce qu’elles tentent de dire, en décodant les postures, les mimiques, les regards, les cris, les pleurs… On met en place ensuite une communication au moyen d’images représentant des objets, des personnes ou des actions de la vie quotidienne pour faciliter les échanges. UNE ORIGINE GENETIQUE MAIS NON HEEREDITAIRE Ce trouble concerne 1 naissance sur 10 à 15 000, ce qui représente 9 000 nouveaux cas chaque année dans le monde et une vingtaine au Maroc. Il provient de la mutation d’un gène sur le chromosome sexuel féminin X : plus précisément, il s’agit d’une néo-mutation, c’est-à-dire une mutation qui n’est pas portée et héritée de la mère ou le père, mais qui apparaît chez le futur bébé lors de son stade embryonnaire. DES ESPOIRS A L’HORIZON ? Ce syndrome fait l’objet actuellement d’une recherche médicale très dynamique. De nouvelles thérapeutiques, dont certaines sont en voie d’essai, permettront déjà certainement de réduire et maîtriser les problèmes cardiorespiratoires, sources des complications les plus graves. A plus long terme, tous les espoirs des familles reposent sur la thérapie génique susceptible d’apporter une amélioration significative et même la guérison. Son principe reposerait sur le remplacement du gène défectueux par l’introduction d’un gène normal et fonctionnel dans les cellules nerveuses, les neurones. LE DESARROI DES FAMILLES AU MAROC Comme le montre la description ci-dessus de tous ses aspects, cette affection implique de la part des parents au Maroc beaucoup de sacrifices, tant personnels que financiers. Bien des familles sont incapables d’y faire face avec une réelle efficacité et la prise en charge médicale est souvent défaillante. Face à toutes ces difficultés, des parents se sont mobilisés en créant, en 2015, l’association marocaine du syndrome de Rett. Leur énergie a permis de sortir de l’anonymat ce terrible mal mais il reste beaucoup à faire pour que tous ces enfants atteints puissent vivre dignement. L’ASSOCIATION MAROCAINE DU SYNDROME DE RETT (AMSR) L'association a été créée en 2015 par Monsieur El Mokhtar Mustapha. Elle a organisé sa première journée d'information et de sensibilisation à Rabat en mars 2017. El Mokhtar Mustapha EST EGALEMENT MEMBRE FONDATEUR ET MEMBRE DU BUREAU DE L’ALLIANCE DES MALADIES RARES AU MAROC Dr MOUSSAYER KHADIJA الدكتورة خديجة موسيار Spécialiste en médecine interne et en Gériatrie en libéral à Casablanca. Présidente de l’Alliance des Maladies Rares au Maroc (AMRM) et de l’association marocaine des maladies auto-immunes et systémiques (AMMAIS), Vice-présidente du Groupe de l’Auto-Immunité Marocain (GEAIM) SITES UTILES Orphanet : Grand site de référence sur les maladies rares, destiné aux professionnels et au grand public : https://www.orpha.net/consor/cgi-bin/index.php ALLIANCE maladies rares : http://www.alliance-maladies-rares.org/ EURORDIS http://www.eurordis.org/

Dr Moussayer khadija

Dr MOUSSAYER KHADIJA الدكتورة خديجة موسيار Spécialiste en médecine interne et en Gériatrie en libéral à Casablanca. Présidente de l’Alliance Maladies Rares Maroc (AMRM) et de l’association marocaine des maladies auto-immunes et systémiques (AMMAIS), Vice-présidente du Groupe de l’Auto-Immunité Marocain (GEAIM)

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THE ADVENTURES OF TOM SAWYER - PREFACE 3733

Bluwr X Commons: Mark Twain, 2 y.

- Short Stories -

0.6 min read.

Most of the adventures recorded in this book really occurred; one or two were experiences of my own, the rest those of boys who were schoolmates of mine. Huck Finn is drawn from life; Tom Sawyer also, but not from an individual—he is a combination of the characteristics of three boys whom I knew, and therefore belongs to the composite order of architecture. The odd superstitions touched upon were all prevalent among children and slaves in the West at the period of this story—that is to say, thirty or forty years ago. Although my book is intended mainly for the entertainment of boys and girls, I hope it will not be shunned by men and women on that account, for part of my plan has been to try to pleasantly remind adults of what they once were themselves, and of how they felt and thought and talked, and what queer enterprises they sometimes engaged in. THE AUTHOR. HARTFORD, 1876.

THE MEDITATIONS - Book I.[1/3] 3856

Bluwr X Commons: Marcus Aurelius, 2 y.

3.7 min read.

1. I learned from my grandfather, Verus, to use good manners, and to put restraint on anger. 2. In the famous memory of my father I had a pattern of modesty and manliness. 3. Of my mother I learned to be pious and generous; to keep myself not only from evil deeds, but even from evil thoughts; and to live with a simplicity which is far from customary among the rich. 4. I owe it to my great-grandfather that I did not attend public lectures and discussions, but had good and able teachers at home; and I owe him also the knowledge that for things of this nature a man should count no expense too great. 5. My tutor taught me not to favour either green or blue at the chariot races, nor, in the contests of gladiators, to be a supporter either of light or heavy armed. He taught me also to endure labour; not to need many things; to serve myself without troubling others; not to intermeddle in the affairs of others, and not easily to listen to slanders against them. 6. Of Diognetus I had the lesson not to busy myself about vain things; not to credit the great professions of such as pretend to work wonders, or of sorcerers about their charms, and their expelling of Demons and the like; not to keep quails (for fighting or divination), nor to run after such things; to suffer freedom of speech in others, and to apply myself heartily to philosophy. Him also I must thank for my hearing first Bacchius, then Tandasis and Marcianus; that I wrote dialogues in my youth, and took a liking to the philosopher’s pallet and skins, and to the other things which, by the Grecian discipline, belong to that profession. 7. To Rusticus I owe my first apprehensions that my nature needed reform and cure; and that I did not fall into the ambition of the common Sophists, either by composing speculative writings or by declaiming harangues of exhortation in public; further, that I never strove to be admired by ostentation of great patience in an ascetic life, or by display of activity and application; that I gave over the study of rhetoric, poetry, and the graces of language; and that I did not pace my house in my senatorial robes, or practise any similar affectation. I observed also the simplicity of style in his letters, particularly in that which he wrote to my mother from Sinuessa. I learned from him to be easily appeased, and to be readily reconciled with those who had displeased me or given cause of offence, so soon as they inclined to make their peace; to read with care; not to rest satisfied with a slight and superficial knowledge; nor quickly to assent to great talkers. I have him to thank that I met with the discourses of Epictetus, which he furnished me from his own library. 8. From Apollonius I learned true liberty, and tenacity of purpose; to regard nothing else, even in the smallest degree, but reason always; and always to remain unaltered in the agonies of pain, in the losses of children, or in long diseases. He afforded me a living example of how the same man can, upon occasion, be most yielding and most inflexible. He was patient in exposition; and, as might well be seen, esteemed his fine skill and ability in teaching others the principles of philosophy as the least of his endowments. It was from him that I learned how to receive from friends what are thought favours without seeming humbled by the giver or insensible to the gift. 9. Sextus was my pattern of a benign temper, and his family the model of a household governed by true paternal affection, and a steadfast purpose of living according to nature. Here I could learn to be grave without affectation, to observe sagaciously the several dispositions and inclinations of my friends, to tolerate the ignorant and those who follow current opinions without examination. His conversation showed how a man may accommodate himself to all men and to all companies; for though companionship with him was sweeter and more pleasing than any sort of flattery, yet he was at the same time highly respected and reverenced. No man was ever more happy than he in comprehending, finding out, and arranging in exact order the great maxims necessary for the conduct of life. His example taught me to suppress even the least appearance of anger or any other passion; but still, with all this perfect tranquillity, to possess the tenderest and most affectionate heart; to be apt to approve others yet without noise; to have much learning and little ostentation. 10. I learned from Alexander the Grammarian to avoid censuring others, to refrain from flouting them for a barbarism, solecism, or any false pronunciation. Rather was I dexterously to pronounce the words rightly in my answer, confining approval or objection to the matter itself, and avoiding discussion of the expression, or to use some other form of courteous suggestion. 11. Fronto made me sensible how much of envy, deceit and hypocrisy surrounds princes; and that generally those whom we account nobly born have somehow less natural affection. 12. I learned from Alexander the Platonist not often nor without great necessity to say, or write to any man in a letter, that I am not at leisure; nor thus, under pretext of urgent affairs, to make a practice of excusing myself from the duties which, according to our various ties, we owe to those with whom we live. 13. Of Catulus I learned not to condemn any friend’s expostulation even though it were unjust, but to try to recall him to his former disposition; to stint no praise in speaking of my masters, as is recounted of Domitius and Athenodorus; and to love my children with true affection. 14. Of Severus, my brother, I learned to love my kinsmen, to love truth, to love justice. Through him I came to know Thrasea, Helvidius, Cato, Dion, and Brutus. He gave me my first conception of a Commonwealth founded upon equitable laws and administered with equality of right; and of a Monarchy whose chief concern is the freedom of its subjects. Of him I learned likewise a constant and harmonious devotion to Philosophy; to be ready to do good, to be generous with all my heart. He taught me to be of good hope and trustful of the affection of my friends. I observed in him candour in declaring what he condemned in the conduct of others; and so frank and open was his behaviour, that his friends might easily see without the trouble of conjecture what he liked or disliked.