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We hereby report a case of a full-term male neonate diagnosed with PURA syndrome with the symptoms of hypotonia, respiratory distress, feeding difficulty and lethargy. A heterozygous mutation of c.98dupG, p.(Gly34fs) in the PURA gene was detected using next-generation sequencing panel and the diagnosis of PURA syndrome was confirmed. This neonate was followed up for 6 months, and showed delayed mental development. PURA syndrome should be considered in neonates presenting with hypotonia, epilepsy, and delayed nervous system development, after excluding brain damage of premature, hypoxic-ischemic encephalopathy, and congenital metabolic defects. Genetic testing is needed to clarify the diagnosis.
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Objective To analyze the risk factors of aggressive posterior retinopathy of prematurity (AP-ROP). Methods A retrospective case-control study was applied. Questionnaire was designed through literature research to collect data of AP-ROP and ordinary ROP(except for AP-ROP)from March,2012 to September, 2014 in the department of neonatology in Guangdong Women and Children′s Hospital. Based on the ratio of 1:2 , the two groups were selected with the matching conditions:the closest date of admission in hospital,ordinary ROP children,collection and analysis of the data. Results Univariate analysis:gestational age(P<0.05),birth weight(P<0.05),oxygen therapy days(P<0.05),days of mechanical ventilation(P<0.05),gestational age<32 w(P<0.05),birth weight<1250 g(P<0.05),oxygen(P<0.05),oxygen≥14 d(P<0.05),mechanical ven-tilation(P < 0.05),mechanical ventilation ≥ 14 d(P < 0.05),PS(P < 0.05),neonatal anemia(P < 0.05), blood transfusion≥2 times(P<0.05),RDS(P<0.05),neonatal pneumonia(P<0.05),apnea(P<0.05), BPD(P < 0.05),intracranial hemorrhage(P < 0.05),metabolic acidosis(P < 0.05),and retinal hemorrhage (P < 0.05) were related to AP-ROP. Multivariate analysis with conditional logistic regression analysis indicated that blood transfusion ≥2 times(OR:14.956,95%CI:4.328~51.684)and apnea(OR:7.590,95%CI:2.507~22.978)were regarded as the independent risk factors for AP-ROP. Conclusions AP-ROP is associated with low gestational age,low birth weight,oxygen therapy and related complications including RDS and retinal hemorrhage. Blood transfusion and apnea are important independent risk factors of AP-ROP.
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Objective To investigate the feasibility and therapeutic efficacy of inverted Y-shaped silicone airway stent for complex airway diseases (stenosis or fistula). Methods According to the particular anatomic structure and the pathological changes of complex airway diseases, the inverted Y-shaped silicone airway stents were designed. 7 stents were implanted in 7 cases of airway complex diseases with the guidance of interventional rigid bronchoscope under general anesthesia. Results The Y-shaped silicone stents were placed successfully followed with the result of immediate relieves of the symptoms. Dyspnea grade was improved significantly from Ⅲ~Ⅳ to 0 ~Ⅱ , and oxygen saturation elevated from ( 84.1 ± 4.5 ) % in inspiring high concentration oxygen to ( 94.1 ± 2.9 ) % in breathing ambient air (P = 0.000). The main complications were cough, foreign body sensation, chest pain, granulation, sputum retention, et al. Conclusion Placement of Y-shaped silicone airway stent is a feasible and safe treatment for complex airway disease, the recent curative effect is reliable, it is worth further promoting.
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Objective To determine the characteristics of retinal vascularization in premature infants. Methods A prospective study was carried out which included all premature infants with birth weight<2 000 g, who were hospitalized in Guangdong Women and Children's Hospital from September 1, 2009 to August 31, 2010. Close retinal screening and follow-up were carried out in order to record retinal vascularization at different post-conceptional ages. Spearman correlation analysis was performed for statistical analysis. Results A total of 231 infants were enrolled, and follow-up was completed in 212 infants giving a follow-up rate of 91.8%. Twenty-eight infants developed retinopathy of prematurity (ROP) resulting in a ROP morbidity of 13.2%, and 184 cases had full retinal vascularization. The median birth weight was 1 600 g (1 000-1 900 g) and the median gestational age was 32.4 weeks (27.0-35.5 weeks). In the 32-week post-conceptional age group, the proportion with full vascularization in ZoneⅠ,ⅡandⅢwas 87.1%(81/93), 7.5%(7/93) and 0.0%(0/93), respectively. In the 36-week post-conceptional age group, full vascularization was observed in ZoneⅠ, and the proportion with full vascularization in ZoneⅡandⅢrose sharply at 38-week and 40-week post-conceptional age, respectively. The proportion with full vascularization in ZoneⅢwas 100.0%(24/24) at 43-week post-conceptional age. According to Spearman correlation analysis, there was a positive correlation between ZoneⅡand Zone Ⅲ retinal vascularization progression and post-conceptional age (r=0.690 and 0.720;P=0.000). In premature infants, full retinal vascularization in ZoneⅠoccurred at 36-week post-conceptional age. The median gestational age for ZoneⅡand ZoneⅢretinal vascularization was 38 weeks (32.2-40.4 weeks) and 41 weeks (36.0-42.6 weeks), respectively. Therefore, a further 2-3 weeks were required for full retinal vascularization in ZoneⅡand ZoneⅢ. The time differences for under-vascularization in ZoneⅡandⅢwere 8 to 10 weeks, and the time differences for full vascularization in ZoneⅡandⅢwere 8 weeks and 6 weeks, respectively. Conclusion Retinal vascularization varies in premature infants. Almost all premature infants complete vascularization by term gestational age and the majority of infants need to be followed up to 41 weeks. It is essential to focus on the different retinal regions during maturation.
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Objective The aim of our study is to differentiate left atrial from right atrial tachycardia on the basis of P wave configuration during focal atrial tachycardia (AT).Methods Thirty-three patients with focal atrial tachycardia who had undergone successful radiofrequency catheter ablation were considered for inclusion in the study . Site of origin was the left atrium in 10 patients, and right atrium in 23 patients . The surface 12-lead ECG recordings during atrial tachycardia were reviewed in all patients. We analyzed the correlativity between P wave configuration and left atrial tachycardia.Results The specificity of negative P wave in lead I and aVL that indentifed a left atrial focus was 100% and 95% respectively, but the sensitivity was only 30% and 50% respectively. The specificity and sensitivity of positive P wave in V 1 that predicted a left atrial focus was 87% and 80%,respectively.Conclusion It is possible to predict the site of origin of focal atrial tachycardia by analyzing its P wave configuration,,and may be helpful for preparation before ablation.