ABSTRACT
Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotype of proximal deletion on chromosome Xq22.3-q23. A 5 years old boy had a 671 KB microdeletion on Xq23 by chromosomal microarray analysis, including AMMECR1 and CHRDL1 genes. He presented with microsomia, midface hypoplasia, right kidney dysplasia and mildly motor retardation, which have not previously been reported in relation to Xq23 deletion. To the best of our knowledge, this is the first case with Xq23 microdeletion. A total of nine cases with microdeletion at Xq22.3-q23 affecting AMMECR1 and two cases with CHRDL1 mutation were reviewed. This review showed that Xq23 microdeletion with microsomia, midface hypoplasia, kidney dysplasia, and mild motor retardation was rare. The previous literature showed two novel point mutations in AMMECR1 and CHRDL1 with some phenotype difference from the presented case. Xq23 microdeletion should be considered for patients with microsomia, midface hypoplasia, kidney dysplasia and growth retardation.
ABSTRACT
Objective: To highlight severe adenovirus pneumonia in immunocompetent patients by analysis of severe adenovirus pneumonia associated with acute respiratory distress syndrome in whom extracorporeal membrane oxygenation (ECMO) support is required. Methods:Pediatric patients with adenovirus pneumonia and ECMO supports in our hospital from February 2018 to May 2019 were retrospectively analyzed, and having 100 common adenovirus pneumonia children as a control. Results:A total of 8 patients, including 4 boys (50.0%), were enrolled. They were previously immunocompetent with a median age of 31 months. They were admitted as persistent fever and cough for more than one week. Median time prior to development of respiratory failure requiring intubation and invasive mechanical ventilation was 5 days. Venoarterial ECMO support as rescue ventilation was instituted after a median time of 24.5 h of conventional mechanical ventilator support. The median duration on ECMO support was 9 days and mechanical ventilation was 14 days, respectively. Six patients (75%) were recovered and 2 (25%) died. Median length of stay in ICU and hospital were 27.5 days and 47.5 days, respectively. Conclusion:The promising outcomes of our cases suggested that ECMO support for rescue ventilation may be considered when symptoms deteriorated in adenovirus pneumonia patients, and may improve outcome. However, sequelae of adenovirus pneumonia and ECMO-related complications should also be taken into account.
ABSTRACT
Typhoons can cause strong disturbance, mixing, and upwelling in the upper layer of the oceans. Rich nutrients from the subsurface layer can be brought to the euphotic layer, which will induce the phytoplankton to breed and grow rapidly. In this paper, we investigate the impact of an intense and fast moving tropical storm, Typhoon Matsa, on phytoplankton chlorophyll-a (Chl-a) concentration off East China. By using satellite remote sensing data, we analyze the changes of Chl-a concentration, Sea Surface Temperature (SST) and wind speed in the pre- and post-typhoon periods. We also give a preliminary discussion on the different responses of the Chl-a concentration between nearshore and offshore waters. In nearshore/coastal regions where nutrients are generally rich, the Chl-a maximum occurs usually at the surface or at the layer close to the surface. And, in offshore tropical oligotrophic oceans, the subsurface maxima of Chl-a exist usually in the stratified water column. In an offshore area east of Taiwan, the Chl-a concentration rose gradually in about two weeks after the typhoon. However, in a coastal area north of Taiwan high Chl-a concentration decreased sharply before landfall, rebounded quickly to some degree after landfall, and restored gradually to the pre-typhoon level in about two weeks. The Chl-a concentration presented a negative correlation with the wind speed in the nearshore area during the typhoon, which is opposite to the response in the offshore waters. The phenomena may be attributable to onshore advection of low Chl-a water, coastal downwelling and intensified mixing, which together bring pre-typhoon surface Chl-a downward in the coastal area. In the offshore area, the typhoon may trigger increase of Chl-a concentration through uptake of nutrients by typhoon-induced upwelling and entrainment mixing.
