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1.
Gynecol Obstet Fertil ; 41(1): 58-64, 2013 Jan.
Article in French | MEDLINE | ID: mdl-23291053

ABSTRACT

Deep endometriosis is a frequent disease that affects reproductive age women. This disease is characterized by the presence of functional endometrium-like tissue outside the uterus. The common sites of extragenital endometriosis are the bowel and the urinary tract. This disease is also associated with infertility. Furthermore, this disease can cause physical and psychological damage. Therefore, it is really important to develop a multidisciplinary approach in the aim to offer the appropriate treatment. The multidisciplinary team approach for endometriosis is developing to improve the understanding of endometriosis and a multidisciplinary committee for endometriosis was developed in our center. During this meeting, gynecologic, digestive surgeons, urologist, radiologist, procreative medical assistance physicians analyse the case. The role of surgery, before, after or as an alternative to in vitro fertilization (IVF) must be defined. The role of the medical treatment before or after the surgery, before the IVF shall be discussed in order to propose the optimal treatment. In fact, radical surgery is no more recommended and minimally invasive conservative surgery is encouraged in order to preserve the fertility. The multidisciplinary approach permits an appropriate optimal and personalised management of this multifocal disease. The multidisciplinary team approach helps in the development of evidence-based guidelines for the diagnosis and management of endometriosis.


Subject(s)
Endometriosis/therapy , Patient Care Team , Estrogens/therapeutic use , Female , Fertilization in Vitro , Humans , Infertility, Female/etiology , Infertility, Female/therapy , Intestinal Diseases/therapy , Minimally Invasive Surgical Procedures , Pregnancy , Progesterone/therapeutic use , Urologic Diseases/therapy
2.
Leukemia ; 20(6): 1103-8, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16541144

ABSTRACT

Mutations in exon 12 of the nucleophosmin (NPM1) gene occur in about 60% of adult AML with normal karyotype. By exploiting a specific feature of NPM1 mutants, that is insertion at residue 956 or deletion/insertion at residue 960, we developed highly sensitive, real-time quantitative (RQ) polymerase chain reaction (PCR) assays, either in DNA or RNA, that are specific for various NPM1 mutations. In all 13 AML patients carrying NPM1 mutations at diagnosis, cDNA RQ-PCR showed >30 000 copies of NPM1-mutated transcript. A small or no decrease in copies was observed in three patients showing partial or no response to induction therapy. The number of NPM1-mutated copies was markedly reduced in 10 patients achieving complete hematological remission (five cases: <100 copies; five cases: 580-5046 copies). In four patients studied at different time intervals, the number of NPM1 copies closely correlated with clinical status and predicted impending hematological relapse in two. Thus, reliable, sensitive RQ-PCR assays for NPM1 mutations can now monitor and quantify MRD in AML patients with normal karyotype and NPM1 gene mutations.


Subject(s)
Gene Dosage , Leukemia, Myeloid/diagnosis , Leukemia, Myeloid/genetics , Neoplasm, Residual/diagnosis , Neoplasm, Residual/genetics , Nuclear Proteins/genetics , Acute Disease , DNA Mutational Analysis/methods , Gene Expression Profiling , Humans , Mutation , Nucleophosmin , Predictive Value of Tests , Reverse Transcriptase Polymerase Chain Reaction/methods
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