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Book
Bases génétiques des chéloïdes liées à la région 1q

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Abstract

Keloïds consist of pathologic fibrosis, which occurs in the skin after trauma and which grows beyond the boundaries of the injury. These cutaneous lesions are formed by excessive deposition of extracellular matrix, mainly collagen. Keloids occur in populations from several racial backgrounds; however, keloids are 15 times more common in the African-American and African than in the Caucasian population. The causative genes are still unknown, but several genetic Ioci have been described. We studied a Belgian family with keloïds and hypertrophic scars. Ail family members were screened using Affymetrix SNP-chips. Linkage analysis excluded ail known loci and showed a significative linkage to 1q32-q41 region containing 140 genes. We performed pathway analysis by ranking the 140 genes using data from several databases (KEGG, GO) against a training list of genes known to be related to keloïds on the basis of their expression profiling and/or immunohistochemistry. Several candidate genes were selected based on their p-values. One of them was the transforming growth factor beta 2 (TGFβ2), which plays a central role in collagen synthesis. Complete coding sequence of TGFβ2 was sequenced. Two variants were identified: an insertion of ACAA in 5’UTR (106 bp before start codon) and a substitution (A>T) in the 3’UTR (100 bp after stop codon). Both nucleotide changes are reported as polymorphisms in dbSNP. Mitogen-activated Protein Kinase Protein Kinase 2 (MAPKAPK2) was selected as the second candidate gene, on the basis of the knock-out mice, which have delayed wound healing and impaired collagen deposition. The coding parts were sequenced and three substitutions were 4ound: (A>G); Thr25Ala in the first exon, (C>T); 42bp before the third exon and, (C>T); 8bp after the fourth exon. None of these three changes was found in dbSNP. Bioinformatic analyses of the likely impact of the non-coding variants were per[ormed but, in the abscence of fresh tissue, we could not test the impact of these mutations on mRNA splicing of MAPKAPK2. The coding variant is predicted to be benign on PolyPhen analysis and non-deleterious on Panther analysis. Thus, neither one of these perfect positional candidate genes seems to be the causative gene for keloïds and hypertrophies scars in this 1q32-q41 locus Les chéloïdes sont un type de fibrose pathologique qui survient au niveau de la peau après une lésion et qui s’étendent au-delà des limites de la blessure. Ces lésions cutanées sont formées par un dépôt excessif de matrice extracellulaire, surtout du collagène. Les chéloïdes se forment dans des populations d’origines différentes, mais sont 15 fois plus fréquentes chez les Afro-américains et Africains par rapport à la population caucasienne. Les gènes causatifs sont encore inconnus, mais plusieurs loci ont déjà été décrits. Nous avons étudié une famille belge avec à la fois des chéloïdes et des cicatrices hypertrophiées. Dix-milles SNPs ont été génotypés dans 16 membres à l’aide d’une puce Affymetrix. L’analyse de liaison exclut tous les loci connus et montre un nouveau locus 1q32-q41 de Lod score 2,3 contenant 140 gènes. Nous avons effectué le classement par le programme Endeavour des 140 gènes en combinant plusieurs bases de données. Plusieurs gènes candidats ont été sélectionnés. L’un d’eux est le transforming growth factor beta 2 (TGFβ2) qui joue un rôle central dans la synthèse du collagène. Les séquences transcrites du TGFβ2 ont été séquencées dans 6 patients de 6 familles différentes. Deux variantes ont été identifiées : une insertion de «ACAA» en 5’UTR (106 pb avant le codon d’initiation) et une substitution (A>T) en 3’UTR (100 pb après le codon stop). Ces deux changements sont répertoriés comme des polymorphismes dans dbSNP132. Le 2eme gène candidat sélectionné est la mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2). En plus, la souris mutant (MAPKAPK2-/-) présente un retard de cicatrisation et un dépôt de collagène inférieur par rapport aux souris sauvage. Trois substitutions ont été trouvées: (A>G); T25A dans le premier exon, (C>T); 42bp avant le troisième exon, et (C>T); 8bp après le quatrième exon. Seul le 2ème changement a été rapporté dans dbSNP132. L’impact du changement T25A est prédit comme bénin par PolyPhen et non délétère par Panther. En l’absence de tissu frais, nous n’avons pas pu tester l’impact réel de ces changements sur épissage de l’ARNm de MAPKAPK2. Ce changement co-ségrége dans 9 patients sur 12 patients testés. D’autres analyses approfondies seront nécessaire pour impliquer ce gène dans la formation des chéloïdes


Book
Textbook on scar management : state of the art management and emerging technologies
Authors: --- --- ---
ISBN: 3030447650 3030447669 Year: 2020 Publisher: Springer Nature

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This text book is open access under a CC BY 4.0 license. Written by a group of international experts in the field and the result of over ten years of collaboration, it allows students and readers to gain to gain a detailed understanding of scar and wound treatment – a topic still dispersed among various disciplines. The content is divided into three parts for easy reference. The first part focuses on the fundamentals of scar management, including assessment and evaluation procedures, classification, tools for accurate measurement of all scar-related elements (volume density, color, vascularization), descriptions of the different evaluation scales. It also features chapters on the best practices in electronic-file storage for clinical reevaluation and telemedicine procedures for safe remote evaluation. The second section offers a comprehensive review of treatment and evidence-based technologies, presenting a consensus of the various available guidelines (silicone, surgery, chemical injections, mechanical tools for scar stabilization, lasers). The third part evaluates the full range of emerging technologies offered to physicians as alternative or complementary solutions for wound healing (mechanical, chemical, anti-proliferation). Textbook on Scar Management will appeal to trainees, fellows, residents and physicians dealing with scar management in plastic surgery, dermatology, surgery and oncology, as well as to nurses and general practitioners.


Book
Making the Body Beautiful
Author:
ISBN: 9780691240213 Year: 2022 Publisher: Princeton, NJ

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Nose reconstructions have been common in India for centuries. South Korea, Brazil, and Israel have become international centers for procedures ranging from eyelid restructuring to buttock lifts and tummy tucks. Argentina has the highest rate of silicone implants in the world. Around the globe, aesthetic surgery has become a cultural and medical fixture. Sander Gilman seeks to explain why by presenting the first systematic world history and cultural theory of aesthetic surgery. Touching on subjects as diverse as getting a "nose job" as a sweet-sixteen birthday present and the removal of male breasts in seventh-century Alexandria, Gilman argues that aesthetic surgery has such universal appeal because it helps people to "pass," to be seen as a member of a group with which they want to or need to identify. Gilman begins by addressing basic questions about the history of aesthetic surgery. What surgical procedures have been performed? Which are considered aesthetic and why? Who are the patients? What is the place of aesthetic surgery in modern culture? He then turns his attention to that focus of countless human anxieties: the nose. Gilman discusses how people have reshaped their noses to repair the ravages of war and disease (principally syphilis), to match prevailing ideas of beauty, and to avoid association with negative images of the "Jew," the "Irish," the "Oriental," or the "Black." He examines how we have used aesthetic surgery on almost every conceivable part of the body to try to pass as younger, stronger, thinner, and more erotic. Gilman also explores some of the extremes of surgery as personal transformation, discussing transgender surgery, adult circumcision and foreskin restoration, the enhancement of dueling scars, and even a performance artist who had herself altered to resemble the Mona Lisa. The book draws on an extraordinary range of sources. Gilman is as comfortable discussing Nietzsche, Yeats, and Darwin as he is grisly medical details, Michael Jackson, and Barbra Streisand's decision to keep her own nose. The book contains dozens of arresting images of people before, during, and after surgery. This is a profound, provocative, and engaging study of how humans have sought to change their lives by transforming their bodies.

Keywords

Body image --- Surgery, Plastic --- Social aspects. --- Complications. --- Complications and sequelae --- Admiration. --- Aesthetics. --- African Americans. --- Analogy. --- Anecdote. --- Anesthesia. --- Antiseptic. --- Attractiveness. --- Ayurveda. --- Beauty. --- Body image. --- Bra size. --- Brachioplasty. --- Breast. --- Buttock augmentation. --- Buttocks. --- Caricature. --- Cartilage. --- Centrality. --- Cheek. --- Chin augmentation. --- Cleanliness. --- Clothespin. --- Clothing. --- Cosmetics. --- Credential. --- Credentialing. --- Cultural capital. --- Culture of India. --- Direct experience. --- Disease. --- Earlobe. --- Efficacy. --- Eloquence. --- Enthusiasm. --- Evocation. --- Excess skin. --- Face powder. --- Face. --- Family income. --- Female. --- Foreskin restoration. --- Foreskin. --- Granulation tissue. --- Greatness. --- Hair transplantation. --- Hairstyle. --- Health professional. --- High Art. --- High Renaissance. --- Human nose. --- Human physical appearance. --- Human skin color. --- Human spirit. --- Human tooth. --- Humanism. --- Humorism. --- Humour. --- Hygiene. --- I Wish (manhwa). --- Idealization. --- Invention. --- Keloid. --- Kiss. --- Lighting. --- Local anesthesia. --- Lorenz Oken. --- Middle class. --- Modernity. --- Moral imperative. --- Narrative. --- Parody. --- Peaceful coexistence. --- Penis. --- Physical attractiveness. --- Physician. --- Plastic surgery. --- Popularity. --- Positive liberty. --- Projective identification. --- Real Body. --- Recreation. --- Scalp. --- Scholasticism. --- Self-consciousness. --- Sensibility. --- Seriousness. --- Sincerity. --- Social order. --- Social reality. --- Social status. --- Sophistication. --- Superficiality. --- Swaddling. --- Syphilis. --- The Human Face. --- The Mask. --- Theory of justification. --- Thigh. --- Understanding.

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