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121.
Revencu N Quenum G Detaille T Verellen G De Paepe A Verellen-Dumoulin C 《European journal of pediatrics》2004,163(1):33-37
Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. Death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age. Conclusion:molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).Abbreviations
cbEGF
calcium binding EGF motif
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CCA
congenital contractural arachnodactyly
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EGF
epidermal growth factor
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FBN1
fibrillin-1 gene
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FBN2
fibrillin-2 gene
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MFS
Marfan syndrome
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nMFS
neonatal Marfan syndrome 相似文献
122.
Verborgt O Verellen K Van Thielen F Deroover M Verbist L Borms T 《Acta orthopaedica Belgica》2000,66(4):389-391
Ordinary bone wax was used to stop bleeding from the iliac crest after procurement of autogenous bone graft harvesting. This gave rise to a large, symptomatic retroperitoneal tumor, which had to be removed operatively 19 years later. Microscopically, a bone wax granuloma was diagnosed. As far as the authors know this is the first case reported with such late and severe clinical complications after the use of bone wax. 相似文献
123.
In this paper the clinical introduction of stereoscopic kV-imaging in combination with a 6 degrees-of-freedom (6 DOF) robotics system and breathing synchronized irradiation will be discussed in view of optimally reducing interfractional as well as intrafractional geometric uncertainties in conformal radiation therapy. Extracranial cases represent approximately 70% of the patient population on the NOVALIS treatment machine (BrainLAB A.G., Germany) at the AZ-VUB, which is largely due to the efficiency of the real-time positioning features of the kV-imaging system. The prostate case will be used as an example of those target volumes showing considerable changes in position from day-to-day, yet with negligible motion during the actual course of the treatment. As such it will be used to illustrate the on-line target localization using kV-imaging and 6 DOF patient adjustment with and without implanted radio-opaque markers prior to treatment. Small lung lesion will be used to illustrate the system's potential to synchronize the irradiation with breathing in coping with intrafractional organ motion. 相似文献
124.
J B Otte P Gianello F X Wese D Claus G Verellen D Moulin 《Journal of pediatric surgery》1984,19(1):68-71
Out of our last 70 cases of esophageal atresia, a circular myotomy of the upper pouch (Livaditis technique) was required in six patients to achieve an end-to-end anastomosis: all had a lower tracheoesophageal fistula. They were operated on between 15 and 96 hours after birth, without any preoperative attempt of elongation of the upper pouch. Follow-up ranged from 14 to 77 months. Three patients had an uneventful postoperative course and late outcome, despite a moderate ballooning at the myotomy site in one. Three babies developed a mild stricture which responded easily to a few dilatations. Asymptomatic ballooning at the myotomy site was observed in one baby; the other two developed a diverticulum responsible for acute respiratory distress in one case and severe dysphagia in the other. both required esophageal replacement. These observations call attention to the fact that patients treated by myotomy should be followed very carefully early and late, especially if an anastomotic stricture develops or in case of associated tracheomalacia. 相似文献
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Helical tomotherapy is a relatively new intensity-modulated radiation therapy (IMRT) treatment for which room shielding has to be reassessed for the following reasons. The beam-on-time needed to deliver a given target dose is increased and leads to a weekly workload of typically one order of magnitude higher than that for conventional radiation therapy. The special configuration of tomotherapy units does not allow the use of standard shielding calculation methods. A conventional linear accelerator must be shielded for primary, leakage and scatter photon radiations. For tomotherapy, primary radiation is no longer the main shielding issue since a beam stop is mounted on the gantry directly opposite the source. On the other hand, due to the longer irradiation time, the accelerator head leakage becomes a major concern. An analytical model based on geometric considerations has been developed to determine leakage radiation levels throughout the room for continuous gantry rotation. Compared to leakage radiation, scatter radiation is a minor contribution. Since tomotherapy units operate at a nominal energy of 6 MV, neutron production is negligible. This work proposes a synthetic and conservative model for calculating shielding requirements for the Hi-Art II TomoTherapy unit. Finally, the required concrete shielding thickness is given for different positions of interest. 相似文献
129.
Tuyaerts S Van Meirvenne S Bonehill A Heirman C Corthals J Waldmann H Breckpot K Thielemans K Aerts JL 《Journal of leukocyte biology》2007,82(1):93-105
CD4(+)CD25(+) regulatory T cells (Treg) have been described as an important hurdle for immunotherapy. Engagement of glucocorticoid-induced TNF receptor-related protein (GITR) has emerged recently as an important mechanism to control the suppression of CD4(+)CD25(+) Treg. Furthermore, it has been documented extensively that GITR ligation is costimulatory for naive and activated T cells in the murine setting. However, little is known about the role of the human GITR ligand (huGITRL). We wanted to explore whether huGITRL could enhance antigen-specific T cell priming by dendritic cells (DC). First, we confirmed the endogenous expression of GITRL on HUVEC. We also detected GITRL expression on EBV-B cell lines, whereas no GITRL expression was observed on human monocyte-derived DC. Electroporation of GITRL mRNA in monocyte-derived DC resulted in a strong and long-lasting surface expression of GITRL. In contrast to data obtained in mice, no significant abrogation of Treg suppression by GITRL-expressing human DC was observed. Consistent with our mouse data, we showed that huGITRL is costimulatory for responder T cells. Furthermore, we found that GITRL-expressing DC primed increased numbers of Melan-A-specific CD8(+) T cells. We conclude that although huGITRL is not capable of alleviating Treg suppression of responder T cells, huGITRL overexpression on monocyte-derived DC enhances their capacity to induce antigen-specific T cell responses. Thus, GITRL incorporation in DC might improve the antitumor immune response after vaccination. 相似文献
130.