Think Forward.

Les enfants papillon de l'épidermolyse bulleuse 3712

Dr Moussayer khadija, 2 y.
- Science - Society - Health -
3.6 min read.
L'épidermolyse bulleuse est une maladie rare se traduisant par des bulles chroniques sous-épidermiques. Le diagnostic repose sur la biopsie cutanée et l'immunofluorescence directe. Les corticostéroïdes, la dapsone et des soins cutanés méticuleux sont la base du traitement L'épidermolyse bulleuse est une maladie génétique héréditaire rare, qui se caractérise par une fragilité de la peau induisant la formation de bulles et des décollements de peau. Ces atteintes concernent également les muqueuses de la bouche. Cette pathologie se développe très tôt chez l'enfant, généralement à la naissance, et rend la peau si fragile que les enfants qui en sont atteints sont appelés « enfants papillons ». 1/ Entre 200 et 800 personnes atteintes au Maroc On ne connait pas précisément le nombre de personnes atteintes dans le monde : il y aurait en moyenne 5 à 20 personnes atteintes sur 1 000 000, ce qui permet d'estimer le nombre de malades au Maroc entre 200 et 800. Il n'y a pas de sexe de prédilection. 2/ Une origine génétique de la pathologie L'origine de la maladie est génétique et sa transmission est autosomique dominante : le gène impliqué dans la maladie se situe sur un chromosome non sexuel et la présence d'une seule copie du gène est suffisante pour provoquer la maladie. L'« accident » génétique provoque une défaillance du système d'adhésion des cellules dermiques et des différentes couches de l'épiderme. 3/ Les symptômes : un décollement de la peau sous forme de bulles La sévérité de la maladie dépend de la couche de la peau qui se décolle. Les bulles souvent douloureuses induisent des érosions cutanées localisées, voire plus généralisées conduisant à l'absence de peau à certains endroits du corps. Il y a également une déformation des ongles voire leur chute. Un épaississement de la peau au niveau de la paume des mains peut s’observer ainsi que La formation de bulles dans la bouche. 4/ Des traitements pour réduire la formation de bulles La prise en charge de la maladie consiste à protéger soigneusement la peau et éviter les frottements et les traumatismes de la peau et des muqueuses et éviter ainsi que les bulles se forment. Les nouveau-nés et les nourrissons doivent être traités avec une grande douceur. Des vêtements doux, des meubles rembourrés et des températures ambiantes froides permettent de réduire la formation de bulles. Les médicaments sont administrés selon les besoins pour lutter contre la douleur, les démangeaisons et l'infection. 5/ Des thérapies géniques laissent entrevoir de grands espoirs Une thérapie génique sous forme de pommade a ainsi été approuvé en 2023 par la Food and Drug Administration des Etats-Unis pour les patients atteints d’épidermolyse bulleuse. L’essai clinique du produit, le Vyjuvek mis au point par la startup Krystal Biotech, consiste à introduire le « gène manquant » dans les cellules de la peau pour qu’elles puissent produire du collagène. Ce n’est pas une guérison définitive : les cellules de la peau sont constamment renouvelées et les nouvelles cellules présentent le même « défaut génétique ». La thérapie doit être réappliquée par une infirmière ou un médecin une fois par semaine. Certains chercheurs s’inquiètent de la durabilité du traitement , qu’ils estiment à environ deux ou trois mois pour le moment. C'est néanmoins un premier pas important dans la résolution de cette pathologie . Dr Moussayer Khadijka Dr MOUSSAYER KHADIJA الدكتورة خديجة موسيار , الدكتورة خديجة موسياراختصاصية في الطب الباطني و أمراض الشيخوخة, Spécialiste en médecine interne et en Gériatrie, Présidente de l’Alliance des Maladies Rares au Maroc, رئيسة ائتلاف الأمراض النادرة المغرب, Présidente de l’association marocaine des maladies auto-immunes et systémiques (AMMAIS),رئيسة الجمعية المغربية لأمراض المناعة الذاتية و والجهازية, vice -présidente du Groupe de l’Auto-Immunité Marocain (GEAIM). POUR EN SAVOIR PLUS : I/les maladies rares et II/ l’Alliance des Maladies Rares I/ Les Maladies Rares Les maladies rares ont une définition internationale, c’est toute maladie qui touche moins d’une personne sur 2 000. Elles sont au nombre de 7000 à 8 000 et chaque année 200 à 300 maladies rares sont nouvellement décrites. On estime que plus de 5 % de la population mondiale serait concernée par ces maladies, soit environ 1 personne sur 20 et donc au moins1,5 millions de patients au Maroc. Elles sont souvent chroniques, évolutives et en général graves. Le pronostic vital est fréquemment mis en jeu : 80% ont un retentissement sur l’espérance de vie. Une gêne notable et des incapacités à la vie quotidienne sont présentes dans plus de 65% des cas et une perte complète d’autonomie dans 9% des cas. Extrêmement diverses - 80% de ces maladies ont une origine génétique. 3 maladies sur 4 se déclenchent dans l’enfance mais certaines attendent 30, 40 ou 50 ans avant de se déclarer. On peut en citer, la mucoviscidose, les déficits immunitaires, le vieillissement accéléré, la maladie des os de verre, la maladie de l’homme de pierre (une transformation des muscles en os) … . II/ Les Missions et actions de l’Alliance des Maladies Rares au Maroc L’Alliance a pour missions de faire connaître et reconnaître les maladies rares auprès du public, des professionnels de santé et des pouvoirs publics en informant sur leurs enjeux scientifiques, sanitaires et sociaux, par tous les moyens : presse écrite, télévision, radio, sites internet et réseaux sociaux. L’ALLIANCE travaille au quotidien avec beaucoup d’associations marocaines. Elle a de plus signé des conventions de partenariat « stratégiques » avec 12 associations de patients : 1/Association de syndrome de Rett (AMSR) , 2/ Association de Solidarité avec les Enfants de la Lune au Maroc (A.S.E.L.M.) , 3/ Association de l’amyotrophie spinale (SMA) , 4 / association SOS Pku , 5/ association marocaine des malades d’angioedème héréditaire (AMMAO) , 6/ Association Marocaine pour la Santé de l’Enfant et de la Mère (AMSEM) , 7/ Association S.O.S Marfantime (S.O.S.M.) , 8/Association Prader Willi Maroc (P.W.M.) , 9/ Association Flamme d'Espoir pour les Autistes et les Patients atteints de la PKU , 10/ Association marocaine pour les enfants souffrant d’ostéoporose (Ostéogenèse imparfaite) A.M.E.O.S , 11/ Association Marocaine de Mucoviscidose (AMM) , 12/ Association Fragile X Maroc (FxMa) . LE BUREAU DE AMRM Présidente : Dr Khadija Moussayer, Vice –Présidente : Dr Fouzia Chraibi ,Secrétaire général : Dr Mounir Filali Secrétaire général adjoint : M Mohammed ElaidiTrésorière : Mme Najat KababiTrésorière adjointe : Mme Fatima LahouiryConseillers : Mme Salima Benajiba, Dr Zaina Scarby, M. Habib Elghazaoui, M. Mustapha Mokhatar, Mme Ouafa Cherkaoui, Dr Chafiq Tahiri, M. Hicham MissaouiResponsable Relations publiques et communication : M. Abdelhak Kababi "
Dr Moussayer khadija Dr Moussayer khadija

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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GRIMMS’ FAIRY TALES - THE GOLDEN BIRD [1/2] 5561

Bluwr X Commons: Brothers Grimm, 2 y.
- Short Stories -
4.8 min read.
A certain king had a beautiful garden, and in the garden stood a tree which bore golden apples. These apples were always counted, and about the time when they began to grow ripe it was found that every night one of them was gone. The king became very angry at this, and ordered the gardener to keep watch all night under the tree. The gardener set his eldest son to watch; but about twelve o’clock he fell asleep, and in the morning another of the apples was missing. Then the second son was ordered to watch; and at midnight he too fell asleep, and in the morning another apple was gone. Then the third son offered to keep watch; but the gardener at first would not let him, for fear some harm should come to him: however, at last he consented, and the young man laid himself under the tree to watch. As the clock struck twelve he heard a rustling noise in the air, and a bird came flying that was of pure gold; and as it was snapping at one of the apples with its beak, the gardener’s son jumped up and shot an arrow at it. But the arrow did the bird no harm; only it dropped a golden feather from its tail, and then flew away. The golden feather was brought to the king in the morning, and all the council was called together. Everyone agreed that it was worth more than all the wealth of the kingdom: but the king said, ‘One feather is of no use to me, I must have the whole bird.’ Then the gardener’s eldest son set out and thought to find the golden bird very easily; and when he had gone but a little way, he came to a wood, and by the side of the wood he saw a fox sitting; so he took his bow and made ready to shoot at it. Then the fox said, ‘Do not shoot me, for I will give you good counsel; I know what your business is, and that you want to find the golden bird. You will reach a village in the evening; and when you get there, you will see two inns opposite to each other, one of which is very pleasant and beautiful to look at: go not in there, but rest for the night in the other, though it may appear to you to be very poor and mean.’ But the son thought to himself, ‘What can such a beast as this know about the matter?’ So he shot his arrow at the fox; but he missed it, and it set up its tail above its back and ran into the wood. Then he went his way, and in the evening came to the village where the two inns were; and in one of these were people singing, and dancing, and feasting; but the other looked very dirty, and poor. ‘I should be very silly,’ said he, ‘if I went to that shabby house, and left this charming place’; so he went into the smart house, and ate and drank at his ease, and forgot the bird, and his country too. Time passed on; and as the eldest son did not come back, and no tidings were heard of him, the second son set out, and the same thing happened to him. He met the fox, who gave him the good advice: but when he came to the two inns, his eldest brother was standing at the window where the merrymaking was, and called to him to come in; and he could not withstand the temptation, but went in, and forgot the golden bird and his country in the same manner. Time passed on again, and the youngest son too wished to set out into the wide world to seek for the golden bird; but his father would not listen to it for a long while, for he was very fond of his son, and was afraid that some ill luck might happen to him also, and prevent his coming back. However, at last it was agreed he should go, for he would not rest at home; and as he came to the wood, he met the fox, and heard the same good counsel. But he was thankful to the fox, and did not attempt his life as his brothers had done; so the fox said, ‘Sit upon my tail, and you will travel faster.’ So he sat down, and the fox began to run, and away they went over stock and stone so quick that their hair whistled in the wind. When they came to the village, the son followed the fox’s counsel, and without looking about him went to the shabby inn and rested there all night at his ease. In the morning came the fox again and met him as he was beginning his journey, and said, ‘Go straight forward, till you come to a castle, before which lie a whole troop of soldiers fast asleep and snoring: take no notice of them, but go into the castle and pass on and on till you come to a room, where the golden bird sits in a wooden cage; close by it stands a beautiful golden cage; but do not try to take the bird out of the shabby cage and put it into the handsome one, otherwise you will repent it.’ Then the fox stretched out his tail again, and the young man sat himself down, and away they went over stock and stone till their hair whistled in the wind. Before the castle gate all was as the fox had said: so the son went in and found the chamber where the golden bird hung in a wooden cage, and below stood the golden cage, and the three golden apples that had been lost were lying close by it. Then thought he to himself, ‘It will be a very droll thing to bring away such a fine bird in this shabby cage’; so he opened the door and took hold of it and put it into the golden cage. But the bird set up such a loud scream that all the soldiers awoke, and they took him prisoner and carried him before the king. The next morning the court sat to judge him; and when all was heard, it sentenced him to die, unless he should bring the king the golden horse which could run as swiftly as the wind; and if he did this, he was to have the golden bird given him for his own. So he set out once more on his journey, sighing, and in great despair, when on a sudden his friend the fox met him, and said, ‘You see now what has happened on account of your not listening to my counsel. I will still, however, tell you how to find the golden horse, if you will do as I bid you. You must go straight on till you come to the castle where the horse stands in his stall: by his side will lie the groom fast asleep and snoring: take away the horse quietly, but be sure to put the old leathern saddle upon him, and not the golden one that is close by it.’ Then the son sat down on the fox’s tail, and away they went over stock and stone till their hair whistled in the wind. All went right, and the groom lay snoring with his hand upon the golden saddle. But when the son looked at the horse, he thought it a great pity to put the leathern saddle upon it. ‘I will give him the good one,’ said he; ‘I am sure he deserves it.’ As he took up the golden saddle the groom awoke and cried out so loud, that all the guards ran in and took him prisoner, and in the morning he was again brought before the court to be judged, and was sentenced to die. But it was agreed, that, if he could bring thither the beautiful princess, he should live, and have the bird and the horse given him for his own.

THE ENCHIRIDION - I 5247

Bluwr X Commons: Epictetus, 2 y.
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1.1 min read.
There are things which are within our power, and there are things which are beyond our power. Within our power are opinion, aim, desire, aversion, and, in one word, whatever affairs are our own. Beyond our power are body, property, reputation, office, and, in one word, whatever are not properly our own affairs. Now the things within our power are by nature free, unrestricted, unhindered; but those beyond our power are weak, dependent, restricted, alien. Remember, then, that if you attribute freedom to things by nature dependent and take what belongs to others for your own, you will be hindered, you will lament, you will be disturbed, you will find fault both with gods and men. But if you take for your own only that which is your own and view what belongs to others just as it really is, then no one will ever compel you, no one will restrict you; you will find fault with no one, you will accuse no one, you will do nothing against your will; no one will hurt you, you will not have an enemy, nor will you suffer any harm. Aiming, therefore, at such great things, remember that you must not allow yourself any inclination, however slight, toward the attainment of the others; but that you must entirely quit some of them, and for the present postpone the rest. But if you would have these, and possess power and wealth likewise, you may miss the latter in seeking the former; and you will certainly fail of that by which alone happiness and freedom are procured. Seek at once, therefore, to be able to say to every unpleasing semblance, “You are but a semblance and by no means the real thing.” And then examine it by those rules which you have; and first and chiefly by this: whether it concerns the things which are within our own power or those which are not; and if it concerns anything beyond our power, be prepared to say that it is nothing to you.

THE ADVENTURES OF TOM SAWYER - PREFACE 5439

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] 5585

Bluwr X Commons: Marcus Aurelius, 2 y.
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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.