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61.
H. Rougier A. Desrumaux N. Bouchon I. Wroblewski I. Pin F. Nugues E. Mornet G. Baujat 《Archives de pédiatrie》2018,25(7):442-447
Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown. 相似文献
62.
Didier Pin Véronique Guérin-Faublée Virginie Garreau Franck Breysse Oana Dumitrescu Jean-Pierre Flandrois Gerard Lina 《Emerging infectious diseases》2014,20(12):2111-2114
Bovine nodular thelitis is a granulomatous dermatitis associated with infection with acid-fast bacteria. To identify the mycobacterium responsible for this infection, we conducted phylogenetic investigations based on partial sequencing of 6 genes. These bacteria were identified as an undescribed Mycobacterium species that was phylogenetically related to M. leprae and M. lepromatosis. 相似文献
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Anne-Laure Pin Fran?ois Houle Ma?va Guillonneau éric R. Paquet Martin J. Simard Jacques Huot 《Angiogenesis》2012,15(4):593-608
Endothelial cell migration induced in response to vascular endothelial growth factor (VEGF) is a crucial step of angiogenesis and it depends on the activation of the p38 MAP-kinase pathway downstream of VEGFR2. In this study, we investigated the role of microRNAs (miRNAs) in regulating these processes. We found that the VEGF-induced p38 activation and cell migration are modulated by overexpression of Argonaute 2, a key protein in the functioning of miRNAs. Thereafter, we found that miR-20a expression is increased by VEGF and that its ectopic expression inhibits VEGF-induced actin remodeling and cell migration. Moreover, the expression of miR-20a impairs the formation of branched capillaries in a tissue-engineered model of angiogenesis. In addition, the lentivirus-mediated expression of miR-20a precursor (pmiR-20a) is associated with a decrease in the VEGF-induced activation of p38. In contrast, these processes are increased by inhibiting miR-20a with a specific antagomir. Interestingly, miR-20a does not modulate VEGFR2 or p38 protein expression level. miR-20a does not affect either the expression of other known actors of the p38 MAP kinase pathway except MKK3. Indeed, by using quantitative PCR and Western Blot analysis, we found that pmiR-20a decreases the expression of MKK3 and we obtained evidence indicating that miR-20a specifically binds to the 3′UTR region of MKK3 mRNA. In accordance, the VEGF-induced activation of p38 and cell migration are impaired when the MKK3 expression is knocked down by siRNA. We conclude that miR-20a acts in a feedback loop to repress the expression of MKK3 and to negatively regulate the p38 pathway-mediated VEGF-induced endothelial cell migration and angiogenesis. 相似文献
65.
����������ʯ��������Ʒ���½�� 《中国实用儿科杂志》2017,32(10):768-771
??Objective??To find the difference in growth and development of children between full-term symmetric growth restriction??FSGR?? and full-term asymmetric growth restriction??FAGR?? through a general investigation of children born small for gestational age in Shanghai. Methods??This general investigation covered all children under 6 years old in Shanghai. Data on growth were retrospectively obtained from medical records. The P10 of birth head circumference/birthweight of the same gestational age and gender was used to distinguish FSGR and FAGR. Results??The sample contained 10 188 full-term SGA children among whom 8049 were FAGR and 2139 were FSGR. Up to 3 years old??both FSGR and FAGR failed to catch up in weight??height??head circumference and chest circumference. Growth restriction in FAGR was more serious. Significant difference could be seen in weight??t??-3.412??P??0.001?? and chest circumference??t??-2.526??P??0.012?? between FSGR and FAGR at 3 years old. Regarding growth speed??the growth rate of weight ??t??6.272??P??0.001????height ??t??9.143??P??0.001????head circumference ??t??6.063??P??0.001?? and chest circumference ??t??6.617??P??0.001?? were higher in FAGR 6 months after birth??while there was no difference after that. The BMI of FAGR was significantly lower than FSGR before 2 years old. The proportion of children in danger of being overweight was significantly higher in FSGR ??P??0.001??. Conclusion??Both FSGR and FAGR experience catch-up growth after birth??but not enough to catch up with normal children at 3 years old??especially in head circumference. In spite of severer growth restriction??the cath-up growth model of FAGR is superior to FSGR. The proportion of children in danger of being overweight is significantly higher in FSGR. 相似文献
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目的了解改良前外侧小切口髋关节置换术的术中配合方法。方法总结41例46髋前外侧小切口髋关节置换术的手术过程,从术前准备、手术体位、术中配合等方面分析和总结与手术进程相关的护理步骤。结果通过充分的手术前器械准备,手术体位、搬放和术中根据手术进程进行细心的工具配合,所有手术患者术中手术进程顺利,术后效果满意。结论仔细的手术准备和熟练的术中护理配合是前外侧小切口髋关节置换术取得良好疗效的关键因素。 相似文献
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