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21.
Clémence Jacquin Emilie Landais Céline Poirsier Alexandra Afenjar Ahmad Akhavi Nathalie Bednarek Caroline Bénech Adeline Bonnard Damien Bosquet Lydie Burglen Patrick Callier Sandra Chantot-Bastaraud Christine Coubes Charles Coutton Bruno Delobel Margaux Descharmes Jean-Michel Dupont Vincent Gatinois Nicolas Gruchy Sarah Guterman Abdelkader Heddar Lucas Herissant Delphine Heron Bertrand Isidor Pauline Jaeger Guillaume Jouret Boris Keren Paul Kuentz Cedric Le Caignec Jonathan Levy Nathalie Lopez Zoe Manssens Dominique Martin-Coignard Isabelle Marey Cyril Mignot Chantal Missirian Céline Pebrel-Richard Lucile Pinson Jacques Puechberty Sylvia Redon Damien Sanlaville Marta Spodenkiewicz Anne-Claude Tabet Alain Verloes Gaelle Vieville Catherine Yardin François Vialard Martine Doco-Fenzy 《American journal of medical genetics. Part A》2023,191(2):445-458
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients. 相似文献
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Chantal Etievant Jean-Marc Barret Anna Kruczynski Dominique Perrin Bridget T. Hill 《Investigational new drugs》1999,16(1):3-17
Vinflunine (VFL) is a novel derivative of vinorelbine (NVB, Navelbine®), which has shown markedly superior antitumor activity to NVB, in various experimental animal models. To establish whether this new Vinca alkaloid participates in P-glycoprotein (Pgp)-mediated multidrug resistance (MDR), VFL-resistant murine P388 cells (P388/VFL) were established in vivo and used in conjunction with the well established MDR P388/ADR subline, to define the in vivo resistance profile for VFL. P388/VFL cells proved cross-resistant to drugs implicated in MDR (other Vinca alkaloids, doxorubicin, etoposide), but not to campothecin or cisplatin and showed an increased expression of Pgp, without any detectable alterations in topoisomerase II or in glutathione metabolism. The P388/ADR cells proved cross-resistant to VFL both in vivo and in vitro, and this VFL resistance was efficiently modulated by verapamil in vitro. Cellular transport experiments with tritiated-VFL revealed differential uptake by P388 sensitive and P388/ADR resistant cells, comparable with data obtained using tritiated-NVB. In various in vitro models of human MDR tumor cells, whilst full sensitivity was retained in cells expressing alternative non-Pgp-mediated MDR mechanisms, cross resistance was identified in Pgp-overexpressing cells. Differences were, however, noted in terms of the drug resistance profiles relative to the other Vincas, with tumor cell lines proving generally least cross-resistant to VFL. Overall, these results suggest that VFL, like other Vinca alkaloids, participates in Pgp-mediated MDR, with tumor cells selected for resistance to VFL overexpressing Pgp, yet MDR tumor cell lines proved generally less cross resistant to VFL relative to the other Vinca alkaloids. 相似文献
23.
Effects of tracheostomies on infection and airway complications in pediatric burn patients 总被引:6,自引:0,他引:6
Barret JP Desai MH Herndon DN 《Burns : journal of the International Society for Burn Injuries》2000,26(2):190-193
Considerable controversy exists as to whether tracheostomy is ever indicated in burn patients. New advents in the treatment of inhalation injury have improved survival, making the use of tracheostomy more usual. The purpose of this study was to analyze the outcome of tracheostomies, and the effect of time on complications. Patients requiring ventilatory support and tracheostomies were studied. Demographic data, hospital course, ventilatory parameters and complications were analyzed. Two hundred ninety patients required ventilation and 36 tracheostomy. Mean percentage of TBSA burned was 59%+/-4. Ninety percent of these patients presented with inhalation injury. Mortality in tracheostomy patients was 25 and 16% in all ventilated patients. Thirty-five percent of the patients developed late complications. Patients who had their airway converted to tracheostomy before day 10 postinjury had a significantly lower incidence of subglottic stenosis. and patients who required airway pressures over 50 cm H2O for more than 10 days had a significantly higher incidence of tracheomalacia. Pneumonia occurred at similar incidence in ventilated and tracheostomy patients. The mortality and late complications of pediatric burn patients with tracheostomy has decreased over the last decade. They do not present with higher incidence of pneumonia. Maintenance of airway pressures below 50 cm H2O and conversion of the artificial airway to tracheostomy before day 10 postinjury may be advisable in patients requiring long term ventilation to prevent late complications. 相似文献
24.
Emily S Patterson Emilie M Roth David D Woods Renée Chow José Orlando Gomes 《International journal for quality in health care》2004,16(2):125-132
OBJECTIVE: To describe strategies employed during handoffs in four settings with high consequences for failure. DESIGN: ANALYSIS: of observational data for evidence of use of 21 handoff strategies. SETTING: NASA Johnson Space Center in Texas, nuclear power generation plants in Canada, a railroad dispatch center in the United States, and an ambulance dispatch center in Toronto. MAIN MEASURE: Evidence of 21 handoff strategies from observations and interviews. RESULTS: Nineteen of 21 strategies were used in at least one domain, on at least an 'as needed' basis. CONCLUSIONS: An understanding of how handoffs are conducted in settings with high consequences for failure can jumpstart endeavors to modify handoffs to improve patient safety. 相似文献
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Emilie Meaux Sylvie Roux Magali Batty 《Social cognitive and affective neuroscience》2014,9(8):1089-1098
Processing information from faces is crucial to understanding others and to adapting to social life. Many studies have investigated responses to facial emotions to provide a better understanding of the processes and the neural networks involved. Moreover, several studies have revealed abnormalities of emotional face processing and their neural correlates in affective disorders. The aim of this study was to investigate whether early visual event-related potentials (ERPs) are affected by the emotional skills of healthy adults. Unfamiliar faces expressing the six basic emotions were presented to 28 young adults while recording visual ERPs. No specific task was required during the recording. Participants also completed the Social Skills Inventory (SSI) which measures social and emotional skills. The results confirmed that early visual ERPs (P1, N170) are affected by the emotions expressed by a face and also demonstrated that N170 and P2 are correlated to the emotional skills of healthy subjects. While N170 is sensitive to the subject’s emotional sensitivity and expressivity, P2 is modulated by the ability of the subjects to control their emotions. We therefore suggest that N170 and P2 could be used as individual markers to assess strengths and weaknesses in emotional areas and could provide information for further investigations of affective disorders. 相似文献
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