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Yu-Xiong Guo,1,2,* Hong-Xia Ma,1– 3,* Yu-Xin Zhang,2 Zhi-Hong Chen,2 Qiong-Xiang Zhai1,2 1The Second School of Clinical Medicine, Southern Medical University, Guangzhou, 510280, People’s Republic of China; 2Department of Pediatrics, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, 510080, People’s Republic of China; 3Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524000, People’s Republic of China*These authors contributed equally to this workCorrespondence: Qiong-Xiang ZhaiDepartment of Pediatrics, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, 106 Zhongshan Second Road, Yuexiu District, Guangzhou, 510080, People’s Republic of ChinaTel +86-2083827812-76222Fax +86-20-8328480Email zhaiqx_241@163.comBackground: Intellectual developmental disorders (IDD) generally refers to the persistent impairment of cognitive activities and mental retardation caused by physical damage to the brain or incomplete brain development. We aimed to explore its genetic causes.Methods: In this study, 21 IDD patients were recruited. The Gesell developmental scales (GDS) and Wechsler intelligence scale for children (WISC) were used to assess the impaired level of intellectual development for all probands. A superconducting MRI scanner (Philips AcsNT 3.0 T Philips, Best, The Netherlands) was used to perform a plain MRI scan of the skull on the probands. The whole-exome sequencing was carried out using next-generation sequencing in all probands and their families.Results: Eight had seizures and four had typical characteristics of autism. Pregnancy and delivery were uneventful except for three patients. Moderate IDD (52.4%) accounted for the majority. The abnormal MRI results included ventriculomegaly, pachygyria, broadening external cerebral space, abnormal signal change and agenesis of corpus callosum. Eleven va

Yu-Xiong Guo,1,* Zhao-Ni Wang,2,* Ya-Ting Li,2 Li Pan,2 Li-Fen Yang,2 Yan Hu,1 Yue-Yu Sun,1 Liang-Ming Cai,2 Zhuang-Gui Chen2 1Pediatric Intensive Care Unit, Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, 2Pediatric Intensive Care Unit, Department of Pediatrics, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China *These authors contributed equally to this work Background and purpose: Early or primary application of high-frequency oscillatory ventilation (HFOV) has been recently suggested not to offer benefit to patients with acute respiratory distress syndrome (ARDS). However, the rescue effects of HFOV on severe pediatric acute respiratory distress syndrome (PARDS) with hypoxemia refractory to conventional mechanical ventilation (CMV) remain unclear. This study aimed to determine whether severe PARDS children would benefit from HFOV when oxygenation deteriorated on CMV and to identify any potential risk factors related to mortality. Patients and methods: In a retrospective and observational study, 48 children with severe PARDS between January 2009 and July 2015 were divided into two groups: 26 in HFOV group and 22 in CMV group. Data regarding demographic, underlying conditions, arterial blood gases and clinical outcomes were collected and analyzed. Results: The arterial partial pressure of oxygen (PaO2)/fraction of inspiration oxygen (FiO2) ratio and PaO2 improved significantly during HFOV, whereas arterial partial pressure of carbon dioxide (PaCO2) and oxygenation index decreased. There was no statistical difference in the in-hospital mortality between the groups (P=0.367). The odds ratio of survival in HFOV group was 2.74 (95% confidence interval 0.52 to 14.58, P=0.237). The pediatric intensive care unit length of stay and total ventilation duration were longer in HFOV group (P=0.048 and P=0.000, respectively). Vasoactive agents were used more freq