62 research outputs found

    The MLL recombinome of acute leukemias in 2017

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    Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients

    Fistula in Ano :The Place of Rectal Advancement Flap Technique

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    SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Fistula in ano: The place of rectal advancement flap technique

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    Classical surgical techniques for anal trans- or suprasphincteric fistulas imply the division of the sphincters likely to induce postoperative continence impairment. The rectal advancement flap technique achieves healing of the fistula in a significant number of patients, while avoiding any sphincter division, and therefore the development of further incontinence.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    To the editor [4]

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    SCOPUS: le.jinfo:eu-repo/semantics/publishe

    Defunctioning stoma and anastomotic leak rate after total mesorectal excision with coloanal anastomosis in the context of PROCARE.

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    Anastomotic leakage (AL) after total mesorectal excision is a major adverse event. Construction of a defunctioning stoma (DS) reduces the morbidity of AL. This study aims to illustrate the AL rate and its related morbidity with and without primary stoma formation in the context of a Belgian project, PROCARE.0Journal ArticleResearch Support, Non-U.S. Gov'tPROCAREinfo:eu-repo/semantics/publishe

    Synoviosarcoma: présentation d'un cas et revue de la littérature

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    Synovial sarcoma is a rare tumour. The diagnosis is difficult because of the lack of typical clinical symptoms and microscopy can be controversial. The prognosis is bad. A case is described in a woman aged 63 who presented previously with osteopoikily without clinical signs. The sarcoma was situated at the knee and was at first confused with a degenerative arthritis. The patient died despite secondary amputation. After study of the literature the authors conclude that the prognosis may be improved by early diagnosis.SCOPUS: NotDefined.jinfo:eu-repo/semantics/publishe

    Modified H-pouch as an alternative to the J-pouch for anorectal reconstruction

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    Aim: A modification is described of the J-pouch to facilitate ileoanal anastomosis in the presence of an anal or anovaginal fistula. Method: The bowel is divided at the level of the apex of the J-pouch, the distal limb is advanced to project beyond the proximal limb by 3-5 cm. The pouch is constructed by a side-to-side anastomosis to form the H-pouch with a distal ileal segment, which is passed through the anal canal to form an ileoanal anastomosis. Results: The modification allows the treatment of anal and rectal disorders not resolvable by a usual J-pouch construction, as in cases where a rectal resection is needed for concomitant fistulation or destruction of the anal mucosa. The functional results are similar to those of the J-pouch, with no added postoperative morbidity. This technique helps to avoid permanent stoma in selected cases. Conclusion: The modified pouch is relatively simple to perform and can help the surgeon to address complex anorectal disorders. © 2014 The Association of Coloproctology of Great Britain and Ireland.SCOPUS: ar.jFLWINinfo:eu-repo/semantics/publishe

    Unusual splenic complication of acute pancreatitis

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    SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Epithelioid hemangioendothelioma and liver transplantation

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    SCOPUS: le.jinfo:eu-repo/semantics/publishe
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