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Objective:To investigate the clinical characteristics, diagnosis and treatment status, and existing problems of early infantile epileptic encephalopathy type 2 (EIEE2) caused by de novoa mutation of cyclin-dependent kinase-like 5 gene (CDKL5).Methods:The medical history, auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12, 2019 were retrospectively analyzed.Combined with relevant literatures, the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results:The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c. 119C>T/ p. A40V heterozygous mutation of CDKL5 gene, which was de novo mutation.Conclusions:EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.
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The clinical data of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation in the Department of Newborn Infants, Children′s Hospital of Nanjing Medical University were retrospectively analyzed.The laboratory examination, genetic characteristics, diagnosis and treatment progress were analyzed.This is the first report of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation, presenting with an early-onset epilepsy.Gene analysis is the most reliable method to make a definitive diagnosis.
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Objective To study the variability of oxygen saturation in intestinal tissue of preterm infants during erythrocyte infusion .Method Preterm infants aged over 5 days, hospitalized in our NICU from March 2016 to August 2016 were selected by computer random number generator . Near-infrared spectroscopy was applied to monitor splanchnic tissue oxygen saturation ( SrSO2 ) and cerebral tissue oxygen saturation(CrSO2)during erythrocyte transfusion.The duration of transfusion was 4 hours.The mean value and range of SrSO2 and CrSO2 during transfusion were analyzed.To analysis the average and variable range of SrSO2 and CrSO2 and to illuminate the correlation with post-conceptional age. Result A total of 34 premature infants were collected.The average of SrSO2 was (0.56 ±0.06) and the average of CrSO2 was (0.62 ±0.02) throughout transfusion, There was a significantly greater change in SrSO2 than in CrSO2 during the transfusion period (0.35 ±0.14 vs.0.18 ±0.09) (P<0.05).The changing range of CrSO2 was smaller as the post-conceptional age increased , and was significant different statistically ( P=0.006). While there was little change in the range of SrSO 2 (P=0.191).Conclusion The of SrSO2 change was more significant than CrSO 2 in preterm infants during erythrocyte transfusion , which may cause ischemia-reperfusion injury to the intestinal tissue .It should be more cautious to avoid transfusion-related necrotizing enterocolitis.
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Objective To explore the impact of early repetitive painful procedures on subsequent pain behaviors and physiological indicators in full-term infants.Methods Sixty-two full-term neonates were enrolled (male 36 cases,female 26 cases) from the medical center of neonatal care at Nanjing Children's Hospital Affiliated to Nanjing Medical University from March to May in 2009.The data of all painful procedures were performed on those neonates and their responses to them were collected by using digital video recording were collected.The Neonatal Facial Coding System C(NFCS) and Neonatal Infant Pain Scale(NIPS) were used prospectively to evaluate the pain response to painful procedures.Results The average experience of pain caused by operation on newborn at the hospital was 56.5 times (12-249 times),and the daily average was 5.9 times (4-26 times).After they were exposed to more than 10 repetitive pain procedures,the full-term neonates showed the declining pain response assessed by NFCS and NIPS during the subsequent painful procedures (NFCS:P10=0.012,P20=0.015,P30=0.041;NIPS:P10=0.006,P20=0.015,P30=0.049),and the temporarily enhanced pain response was observed in the preparation phase of the subsequent painful procedures (NFCS:P2＜0.001,P3＜0.001,P4=0.004,P5=0.009;NIPS:P2＜0.001,P3＜0.001,P4=0.045,P5 =0.031).Bnt there was no difference in preparation phase.There was no alternation in latency and crying time after repetitiing painful procedures,but the proportion of crying neonates in the preparation phase of the painful procedures was increased(P=0.032).Conclusions After exposed to repetitive pain,full-term neonates expressed hypoalgesia during subsequent painful procedures,but the temporary irritation was enhanced during the following phases exposed to stress.