Objective:To investigate the clinical and genetic features of 3-methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome(MEGDHEL syndrome) caused by SERAC1 gene variation. Methods:This study retrospectively described the clinical and molecular features and prognosis of a baby boy who was transferred to Children's Hospital of Fudan University and later diagnosed with MEGDHEL syndrome in August 2016. A summary of the clinical and genetic manifestations of MEGDHEL syndrome cases reported in China and foreign areas was conducted through a literature review.Results:(1) Case report: The 2-day-old patient was transferred to Children's Hospital of Fudan University due to hyperlactic acidemia after birth. Physical examination revealed scattered petechiae and ecchymoses of the skin. Laboratory examination showed coagulation disorders and cranial MRI revealed abnormal signals in both basal ganglia. A homozygous variation of c.442C>T(p.Arg148*) in the SERAC1 gene was detected in the patient, which is a pathogenic variant included in the Human Gene Mutation Database. Both of his parents were heterozygous carriers, thereby the diagnosis of MEGDHEL syndrome was confirmed. Followed up to the age of three years and 11 months, he was found to have psychomotor retardation, spasticity, dystonia, deafness, and loss of language ability. (2)Literature review: Together with the case reported in this study, a total of 88 cases were retrieved, involving 57 different variants. The clinical features were homogenous, with onset mostly in the neonatal period (72%, 62/86), and severe reversible liver dysfunction (49%, 38/77) and neonatal hypoglycemia (44%, 35/80) were the main features. Nervous system was affected since infancy and common symptoms, included hypotonia (86%, 68/79), progressive spasticity (82%, 67/82), dystonia (80%, 66/82), intellectual disability (88%, 58/66) and sensorineural hearing impairment (74%, 59/80). Furthermore, bilateral basal ganglia involvement on cranial MRI (93%,70/75) and 3-methylglutaconic aciduria (98%,80/82) were also seen. Supportive care is currently the main management, however, the prognosis is extremely poor. Conclusions:MEGDHEL syndrome should be highly suspected when reversible neonatal liver dysfunction or hypoglycemia of unknown reasons in neonatal period, followed by progressive deafness-dystonia syndrome in infancy. As the prognosis of these patients is usually poor, genetic testing may provide an early diagnosis in neonatal period.

Objective:To study the characteristics of video electroencephalogram (VEEG) and cranial magnetic resonance imaging (MRI) in neonates with inborn errors of metabolism (IEM) and to determine the predictive value for prognostic.Method:From June 2016 to December 2018, a retrospective study was performed on newborns diagnosed with IEM receiving VEEG examinations at the Neonatology Department of our hospital. VEEG and cranial MRI were used as prognostic indicators and the follow-up results were used as criteria predicting the accuracy of prognosis. The accuracy of the prediction was calculated using a 4 × 4 table.Result:A total of 21 eligible cases with 14 types of IEM were included. The most common type of IEM was organic acidemia (47.6%, 10/21). 16 cases (76.2%) had abnormal VEEG background patterns, including 8 cases of organic acidemia, 3 cases of urea cycle disorders, 1 case of energy metabolism disorder and 4 cases of other IEMs. No significant differences existed in the abnormality rate of VEEG background patterns among these groups ( P=0.882). VEEG showed 3 cases of seizures including 2 cases of electrographic-only seizures. Interburst interval durations were shortened on VEEG background with the decrease of blood ammonia level. The positive predictive values of the moderate-to-severe abnormal VEEG background and the presence of major cerebral lesions on MRI in predicting poor prognosis were 90.0% (95% CI 55.5%~99.7%) and 100% (95% CI 66.4%~100%), respectively, and the negative predictive values were 50.0% (95% CI 18.7%~81.3%) and 85.7% (95% CI 42.1%~99.6%), respectively. Conclusion:Neonates with IEM have higher incidences of abnormal VEEG. Continuous VEEG may accurately diagnose neonatal seizures and effectively monitor brain function. VEEG is a useful tool monitoring infants with IEM and predicting adverse outcomes, especially when used in combination with brain MRI.

Objective:To search and summarize the relevant evidences for perioperative hydration in prevention of contrast-induced acute kidney injury (CIAKI) in patients undergoing coronary intervention, and to provide evidence-based basis for clinical nursing staff to develop personalized perioperative hydration plan and prevent CIAKI.Methods:Evidence-based nursing was used to search evidences for perioperative hydration in prevention of CIAKI in patients undergoing coronary intervention in UpToDate, National Guideline Clearing-house (NGC) , European Society of Cardiology (ESC) , JBI Evidence Summary Database, Cochrane Database, PubMed, Wanfang Database, China National Knowledge Infrastructure (CNKI) and China Biomedical Literature Database (CBM) , including evidence summary, guidelines, expert consensus and systematic reviews. The search time was from the establishment of the database to February 2019. Two researchers evaluated the quality of included literatures and extracted evidence from literatures that met the quality standards.Results:A total of 9 articles of evidence were included, including 1 evidence summary, 3 guidelines, 3 expert consensus and 2 systematic evaluations. Finally, a total of 10 pieces of evidence from 5 aspects, including CIAKI risk assessment, hydration fluid type, hydration path and timing, hydration rate and urine volume monitoring, were summarized.Conclusions:This study summarizes the best evidence for perioperative hydration in prevention of CIAKI in patients undergoing coronary intervention and provides an evidence-based basis for clinical medical staff.

Objective To analyze the changes in cerebral oxygen saturation( CrSO2 )and cerebral fractional oxygen extraction ratio(CFOE)before,during and after red blood cell(RBC)transfusion in premature infants,and to explore the effect of RBC transfusion on the cerebral tissue oxygenation in premature infants. Methods The preterm infants With gestational age﹤37 Weeks Who Were treated With RBC transfusion Were selected from September 2017 to March 2018 in Neonatal Department of Children＇s Hospital of Fudan University. Near－infrared spectroscopy( NIRS) Was applied to continuously monitor CrSO2 from 2 h before RBC transfusion to 24 h after RBC transfusion. Transcuta﹣neous arterial oxygen saturation(TcSaO2 ),heart rate(HR)and blood pressure(BP)Were synchronously measured by using multi－function monitor. CFOE could be calculated based on the monitored TcSaO2 . Results A total of 71 cases Were included in the study,39 males and 32 females,With a medium gestational age of 29(24－37)Weeks,a mean birth Weight of 2 195(710－3 950)g,17 cases in moderate anemia group and 54 cases in severe anemia group. Compared With the data 2 h before transfusion,CrSO2 increased( t ﹦9. 536,P﹤0. 001),While CFOE decreased( t ﹦ －8. 688,P ﹤0. 001)during transfusion in the Whole study population. The CrSO2 at 2 h before blood transfusion,during blood transfu﹣sion,2,6,12 and 24 h after transfusion Were 0. 579 ± 0. 037,0. 591 ± 0. 032,0. 599 ± 0. 035,0. 596 ± 0. 035,0. 595 ± 0. 027,0. 585 ± 0. 022,respectively in moderate anemia group and Were 0. 571 ± 0. 038,0. 592 ± 0. 039,0. 605 ± 0. 038, 0. 603 ± 0. 035,0. 596 ± 0. 032,0. 596 ± 0. 032,respectively in severe anemia group. The CFOE at 2 h before blood trans﹣fusion,during blood transfusion,2,6,12 and 24 h after transfusion Were 0. 40 ± 0. 04,0. 38 ± 0. 03,0. 37 ± 0. 04,0. 38 ± 0. 04,0. 38 ± 0. 03,0. 38 ± 0. 03,respectively in moderate anemia group and Were 0. 42 ± 0. 04,0. 39 ± 0. 04,0. 38 ± 0. 04, 0. 38 ± 0. 04,0. 39 ± 0. 03,0. 39 ± 0. 03,respectively in severe anemia group. CrSO2 increased(t﹦3. 874,P﹤0. 05), While CFOE decreased(t﹦ －4. 091,P﹤0. 05)at 2 h after transfusion in moderate anemia group. In severe anemia group,CrSO2 significantly increased( t ﹦9. 221,P ﹤0. 001),While CFOE significantly decreased( t ﹦ －8. 583,P ﹤0. 001)during transfusion,and this effect lasted until 2 h after transfusion(t﹦5. 926,－5. 556,P﹤0. 001). Compared With the data 2 h before transfusion,CrSO2 Was significantly increased(t﹦6. 894,P﹤0. 001),While CFOE Was signifi﹣cantly decreased(t﹦ －8. 536,P﹤0. 001)at 24 h after transfusion in severe anemia group. HoWever,there Was no signi﹣ ficant difference in CrSO2 and CFOE betWeen the 24 h after transfusion and 2 h before in the moderate anemia group. Conclusions RBC transfusion improves cerebral tissue oxygenation,and severe anemia group benefit more from blood transfusion. Cerebral oxygenation monitoring With NIRS monitor may provide neW insights for the clinical management of RBC transfusion in preterm infants.

Objective: To investigate the effect of red blood cell transfusion on the oxygenation of mesenteric tissue in premature infants. Methods: In this prospective cohort study, preterm infants with gestational age <37 weeks who were treated with red blood cell transfusions were enrolled from June 2017 to March 2018 in Department of Neonatology, Children's Hospital of Fudan University. The infants were categorized into feeding intolerance group and feeding tolerance group according to the feeding intolerance standard. Near-infrared spectroscopy was applied to continuously monitor intestinal oxygen saturation from 2 h before red blood cell transfusion to 48 h after red blood cell transfusion. Intergroup differences of basic conditions were analyzed with t test, Mann-Whitney U test and χ² test. Mixed linear model was used to compare intragroup and intergroup differences in intestinal oxygen saturation over time. Results: A total of 73 cases with gestational age <37 weeks were enrolled, of whom 41 were males and 32 were females, with mean gestational age of (30±4)weeks and mean birth weight of (1 543±688)g; there were 33 cases in feeding intolerance group and 42 cases in feeding tolerance group. The average intestinal oxygen saturations at 2 h before blood transfusion, during blood transfusion, 2, 6, 12, 24, and 48 h after transfusion were 0.50±0.07, 0.52±0.07, 0.52±0.08, 0.51±0.08, 0.51±0.07, 0.51±0.08, and 0.51±0.07 respectively in feeding intolerance group and were 0.51±0.04, 0.55±0.04, 0.57±0.05, 0.57±0.04, 0.56±0.04, 0.56±0.04, and 0.56±0.05 respectively in feeding tolerance group. Compared with 2 h before transfusion, intestinal oxygen saturation were increased during transfusion in both group (feeding intolerance group t=4.992, P=0.000; feeding tolerance group t=9.615, P=0.000), however this effect lasted until 48 h after transfusion in feeding tolerance group (t=5.519, 12.409, 10.033, 9.133, 7.983, all P=0.000). Additionally, the increasement of intestinal oxygen saturation over time were lower in feeding intolerance group(F=8.876, P=0.000). Besides, the level of intestinal oxygen saturation was positively correlated with postmenstrual age (PMA)(F=4.863, P=0.031). In infants with PMA<30 weeks, particularly in feeding intolerance group, the level of intestinal oxygen saturation significantly decreased at 2 h after transfusion (t=23.063, P=0.002). Conclusions: Feeding status and PMA may play a role in development of transfusion-associated necrotizing enterocolitis. Red blood cell transfusion may increase the risk for mesenteric ischemia and is more likely to cause necrotizing enterocolitis in preterm infants with PMA <30 weeks as well as feeding intolerance. Clinical Trail Children's Hospital of Fudan University, NCT02544100.

Therapeutic hypothermia is believed to improve neurodevelopment outcome of infants with moderate-to-severe hypoxic-ischemic encephalopathy(HIE),however,the severe brain injury and neurologic sequelae still can be observed in some infants received therapeutic hypothermia.Optimal monitor and management of systematic complications presented by infants during cooling treatment are necessary for improvement of overall outcome.Therefore,it is essential to understand the functional change of each system of the whole body,to adapt adequate diagnostic methods and to train multidisciplinary staffs to monitor and manage moderate-to-severe HIE infants during therapeutic cooling.With the development of therapeutic hypothermia,it is currently considered as a standard of care for infants with moderate-to-severe HIE.It is recommended that any neonatal intensive care unit(NICU) using routinely therapeutic hypothermia to reference the national or international benchmarking protocols in order to improve the medical quality and prognosis of infants.

Objective Through conducting the project of quality improvement for intrahospital transport of critically ill patients from ward to ICU,to establish graded management under early warning to improve transport efficiency and quality.Methods Through setting up project team,setting goals of quality improvement,measuring and analyzing transport status,the graded management under early warning was established from three aspects:condition,equipment and transport personnel.The graded management under early warning was applied to clinical nursing practice to evaluate the effects.Results There was no statistical difference before and after the implementation of graded management under early warning in gender,age and condition of critical ill patients between two groups,but the time of transport was significantly reduced after the implementation,while there was no equipment failure,and the incidence of adverse events associated with devices decreased effectively.Conclusion The establishment and application of graded management under early warning has effectively reduced the risks of transport,improved efficiency and quality of transport.

Objective To evaluate the effect of transitional care on the quality of life in patients with maintenance hemodialysis (MHD).Methods 101 MHD patients with symptoms of kidney ＜ 80 points were assigned into the interventional group (47 of 51 cases completed the study) and the control group (45 of 50 cases completed the study) by random number table method.The patients in the interventional group received transitional care for 6 months,while control group received routine care.The effects on function index,satisfaction index and clinical index were evaluated at the 3rd month and 6th month after intervention.Results 6 months after intervention,the scores of physical composite,mental composite,burden of kidney disease,symptoms/problems list,effects of kidney disease in the interventional group were 51.78±5.91,55.32±5.36,29.79±17.64,79.39±6.73,68.02±11.38,while the scores of the control group were 38.22±9.46,42.03±8.32,19.58±17.25,69.49±10.10,52.09±16.78,and the difference between the two groups was statistically significant (t=5.308-9.063,Z=-3.07,P ＜ 0.01).The scores of self-management behavior,health locus of control in the interventional group were 71.30-±5.42,25.74±2.42,while the scores of the control group were 65.0±8.74,22.47±3.97 (t=4.132,4.759,P ＜ 0.01).The nursing satisfaction in the interventional group scored 91.06±7.29,which was significantly higher than the control group scored 86.22±10.72 (Z=-2.45,P＜ 0.05).The level of serum phosphorus (PO4),Ca × PO4 products,parathormone (PTH) in the interventional group were (1.76±0.35) mmol/L,(51.02±10.04) mg2/dl2,464.56 ng/L,which were significanlty lower than (2.01±0.54) mmol/L,(57.41±17.38) mg2/dl2,625.78 ng/L in the control group (t=-2.691,-2.167,-2.000 in tum,P ＜ 0.01 or 0.05).Conclusions Transitional care achieves good effectiveness on the quality of life in patients with MHD.

Objeetive To investigate the relationship among social avoidance and acceptance of disability in burn patients.Methods Totally 127 patients were investigated using Social Avoidance and Distress Scale (SADS),Acceptance of Disability Scale (AODS),demographic information questionnaire and disease related information sheet.Results The points of burn patients' SADS was (21.38±6.75),One-way ANOVA showed that gender,marital status,special parts burns,amputation affected social avoidance significantly.The total score and factors scores of acceptance of disability were all negatively related to the score of social avoidance.Regression analysis showed that acceptance of disability,head burns,gender were the independent risk factors of depression.Conclusions Acceptance of disability were negatively related to social avoidance; Nurse can help them accept the reality of disability,develop the confidence to partici-pate in social communication,and improve the social adaptability.

Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2( MEN2) family for confirming the diagnosis and classification , guiding treatment and prevention , and improving the prog-nosis.Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree .PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls .Results The 2 patients and 1 asympto-matic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11.It was a heterozygous missense mutation C634R(TGC → CGC).The 3 normal controls showed no abnormalities .Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN 2, which can guide the treatment and help identify one asymptomatic mutation carrier .