The Experts below are selected from a list of 24 Experts worldwide ranked by ideXlab platform
Mathis J. - One of the best experts on this subject based on the ideXlab platform.
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Fetal laser therapy: applications in the management of Fetal pathologies
Université de Lausanne Faculté de biologie et médecine, 2016Co-Authors: Mathis J.Abstract:Le traitement au laser par foetoscopie est utilisé pour la coagulation d'anastomoses artério-veineuses dans le cadre de syndrome transfuseur-transfusé. Actuellement, certaines malformations peuvent être une indication à ce traitement comme le syndrome des bandes amniotiques, le choriangiome, l'obstruction de l'urètre, le kyste sacro-coccygien et les masses pulmonaires. Ces pathologies peuvent être létales sans intervention et ce traitement, encore expérimental, pourrait être proposé dans ces cas. Il s'agit d'une méta-analyse et revue systématique de la littérature à l'aide de « PubMed », « Medline » et « Web of Science » dans laquelle nous avons recensé tous les cas publiés de traitement par laser durant la période foetale depuis 1980. Cinq groupes de pathologie peuvent bénéficier de ce traitement et sont décrits séparément. Le syndrome des bandes amniotiques peut engendrer une amputation du membre atteint par compression induisant une ischémie ou un décès foetal si cette bande atteint le cordon ombilical. De larges choriangiomes, tératomes sacrococcygiens ou masses pulmonaires peuvent mener à un hydrops foetal par compression ou « vol vasculaire » menant dans les cas les plus sévères à la perte foetale. Des valves de l'urètre postérieur créent une obstruction induisant une mégavessie avec des répercussions rénales ainsi qu'une hypoplasie pulmonaire. Le pronostic de ces différentes pathologies peut être fatal et les options thérapeutiques sont limitées. Dans certains cas, la thérapie au laser par foetoscopie peut changer ce pronostic. Encore expérimentale, cette technique montre des résultats prometteurs. Le taux de réussite et le taux de survie dans les différentes catégories est encore perfectible. L'amélioration devra se faire aussi bien au niveau de l'indication opératoire et de la sélection des cas, de la technique et du matériel que de l'expérience des opérateurs. Cette technique peut offrir un espoir de survie pour des foetus très certainement condamnés. Cette étude est basée essentiellement sur des petites séries de cas ou de cas unique, les résultats doivent donc être analysés avec prudence car des biais de report ou au niveau des investigateurs ne peuvent pas être exclus. La prise en charge de tels cas doit se faire dans un centre de référence, la dé ision d'intervenir devrait être multidisciplinaire et les parents bien informés du pronostic. -- Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, Fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or Fetal hyperechoic lung lesions can lead to Fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought Fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or Fetal Tumor feeding vessels and laser therapy by Fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy
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Fetal laser therapy: applications in the management of Fetal pathologies.
'Wiley', 2015Co-Authors: Mathis J., Raio L., Baud D.Abstract:Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, Fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or Fetal hyperechoic lung lesions can lead to Fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought Fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or Fetal Tumor feeding vessels and laser therapy by Fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy
Baud D. - One of the best experts on this subject based on the ideXlab platform.
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Fetal laser therapy: applications in the management of Fetal pathologies.
'Wiley', 2015Co-Authors: Mathis J., Raio L., Baud D.Abstract:Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, Fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or Fetal hyperechoic lung lesions can lead to Fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought Fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or Fetal Tumor feeding vessels and laser therapy by Fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy
Raio L. - One of the best experts on this subject based on the ideXlab platform.
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Fetal laser therapy: applications in the management of Fetal pathologies.
'Wiley', 2015Co-Authors: Mathis J., Raio L., Baud D.Abstract:Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, Fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or Fetal hyperechoic lung lesions can lead to Fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought Fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or Fetal Tumor feeding vessels and laser therapy by Fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy
Vincent Vandecaveye - One of the best experts on this subject based on the ideXlab platform.
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non invasive detection of genomic imbalances in hodgkin reed sternberg cells in early and advanced stage hodgkin lymphoma by sequencing of circulating cell free dna
Blood, 2014Co-Authors: Peter Vandenberghe, Iwona Wlodarska, Thomas Tousseyn, Luc Dehaspe, Daan Dierickx, Magali Verheecke, Anne Uyttebroeck, Oliver Bechter, Michel Delforge, Vincent VandecaveyeAbstract:Background. Hodgkin lymphoma (HL) accounts for 11-30 % of all lymphomas and is one of the most common lymphoid neoplasms in adolescents and young adults. HL is highly curable today, but 10-15 % of patients will be resistant to or will relapse after first-line therapy. Hodgkin/Reed-Sternberg (HRS) cells, the malignant cells in classical HL (cHL), represent only 0,1-2 % of cells in cHL biopsies, while the remainder is composed of a mixture of non-malignant immune cells. The low abundance of HRS cells severely hampers the identification of recurrent genetic lesions in cHL, as well as the elucidation of its pathogenesis, biology and diversity. Methods. We applied massive parallel sequencing to circulating cell-free DNA (ccfDNA) in a prospective study of patients with biopsy proven nodular sclerosis cHL (NSHL) stage IIA-IVB. Genomic imbalances in HRS cells were investigated by fluorescence in situ hybridization (FISH) on Tumor specimens. Results. We recently implemented a novel pipeline for non-invasive prenatal testing in pregnancy. Based on massive parallel sequencing of ccfDNA, it allows genome-wide detection of Fetal aneuploidies and segmental imbalances. In one case, a complex profile with several genomic imbalances was identified. After exclusion of Fetal and maternal constitutional abnormalities, the possibility of a maternal or Fetal Tumor was considered, and this led to a biopsy-proven diagnosis of early-stage NSHL stage IIA in the pregnant mother. In order to verify the origin of the genomic imbalances found in ccfDNA, we resorted to FISH analysis of the rare HRS cells in formalin-fixed paraffin-embedded biopsy sections. Matching gains of 8qter, 9pter and 14q were found in HRS cells, which strongly suggested that DNA derived from HRS cells was causing the abnormal ccfDNA profile in this case. To further investigate the recurrence of this phenomenon, ccfDNA was prospectively collected from nine cases with NSHL (age 12-65 y), at first diagnosis (n=8) or at relapse (n=1). Seven patients had stage IIA disease, and two had stage IVB disease. In eight, genomic imbalances were found by massive parallel sequencing of ccfDNA. Reassuringly, the affected regions were already reported previously in the few studies that investigated genomic imbalances in cHL by aCGH on microdissected HRS cells. In addition, we extensively validated the imbalances suggested in ccfDNA profiling by FISH analysis of HRS cells in Tumor specimens from all cases. This yielded concordant results in 24 experiments, partially concordant results in two experiments, and discordant results in three experiments only. Combination of FISH with CD30 immunostaining showed the giant cells with abnormal hybridization patterns to be CD30-positive, identifying them unequivocally as HRS cells. Cells with normal hybridization patterns were CD30-negative. The striking overall agreement between the genomic imbalances in ccfDNA and those in HRS cells found by FISH, cogently proves that ccfDNA contains DNA derived from HRS cells. Although profile abnormalities were most pronounced in stage IVB disease, abnormalities were also detected in seven of eight cases with stage IIA disease. All patients, including the pregnant patient, were treated with ABVD-based chemotherapy and all responded as shown by early clinical and imaging evaluation. This was paralleled by rapid normalization of ccfDNA profiles upon therapy initiation in all cases, underscoring the link between the abnormal ccfDNA profiles and the HRS cell burden. Furthermore, this suggests a potential for ccfDNA profiling in the staging and early response monitoring of cHL. The expression of the cell cycle indicator Ki67 and of cleaved caspase-3 was evaluated by immunohistochemistry in Tumor biopsies. Ki67 and cleaved caspase-3 were detected in HRS cells in 10 and 6 cases respectively, consistent with unexpectedly high HRS cell turnover. Conclusions. Non-invasive massive parallel sequencing of ccfDNA allows identification of genomic imbalances in HRS cells in early and advanced stage NSHL. The possibility to interrogate the genomic status of HRS cells in ccfDNA opens important new perspectives for the exploration of the biology of cHL as well as for the diagnosis and management of early and advanced cHL. This novel discovery will facilitate the development of biomarkers and the design of clinical trials with novel biological agents, and may advance targeted and precision therapy in cHL. Disclosures No relevant conflicts of interest to declare.
Edward Araujo - One of the best experts on this subject based on the ideXlab platform.
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prenatally diagnosed Fetal Tumors of the head and neck a systematic review with antenatal and postnatal outcomes over the past 20 years
Journal of Perinatal Medicine, 2017Co-Authors: Gabriele Tonni, Roberta Granese, Eduardo Felix Martins Santana, Jose Pedro Parise Filho, Isabela Bottura, Alberto Borges Peixoto, Annamaria Giacobbe, Andrea Azzerboni, Edward AraujoAbstract:AIM The aim of this study was to review prenatally diagnosed Tumors of the head and neck in the fetus and to report antenatal and postnatal outcomes. METHODS PubMed/Medline, EMBASE/SCOPUS, Cochrane database and Google Scholar were reviewed over the last 20 years. No language or article type restriction was used. RESULTS A total of 1940 record were retrieved. Of the 713 records screened, 566 full-text articles were assessed for eligibility. After 445 articles were excluded for specified reasons, 111 studies met the research criteria and were included for qualitative analysis. Overall, 306 cases of Fetal Tumors of the head and neck were reviewed. Maternal age was an independent factor. The mean maternal age was 28.2 years and gestational age at prenatal diagnosis was 27.1 weeks. Conventional 2D ultrasound was the standard diagnostic procedure in 27.9% of cases and was implemented in 27.3% of cases by 3D ultrasound and Fetal magnetic resonance imaging (MRI). Diagnostic evaluation of intracranial spreading and high-airway obstructions was greatly enhanced by Fetal MRI. The more common type of Fetal Tumor was hemangioma/lymphangioms (42.1%), followed by teratomas (29.7%), Tumors of the gingiva (10.1%) and lymphatic venous malformations (9.1%), respectively. Fetal karyotyping was performed only in 9.8% of cases; within fetuses undergoing karyotype, chromosomal abnormalities accounted for 20% of cases. The most common pregnancy complication was polyhydramnios (26.3%). Ex utero intrapartum treatment (EXIT) procedure was performed in 30.1% of cases while surgical excision was used in 22.9% during postnatal life. The survival rate was 35.35%. CONCLUSION Fetal Tumors of the head and neck are rare congenital malformations. Two-dimensional ultrasound is diagnostic in almost all cases; however, MRI may be an important diagnostic adjunct in targeted cases and help patient selection for immediate intubation at the time of delivery. EXIT procedure and surgical removal of the Tumor was associated with good prognosis.