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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.
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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.
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Objective:To investigate the effects of gestational diabetes mellitus (GDM) on neonatal metabolites.Methods:This retrospective cohort study recruited 580 singleton newborns who were born to women with GDM from January 2018 to December 2018 in Foshan Maternal and Child Health Care Hospital as the GDM group. Another 580 counterparts born to non-GDM singleton mothers with matching age were selected as the non-GDM group with an allocation ratio of 1 to 1. Neonatal genetic metabolic disease screening was performed within 3-7 days after birth. Two independent sample t-test, and multiple linear regression model were used for statistical analysis. Results:There were significant differences in seven amino acids and 10 fatty acids levels between the GDM and non-GDM group. The serum levels of six amino acids and eight fatty acids were increased in the GDM group, while the levels of piperamide [(140.79±32.60) vs (150.26±35.46) μmol/L, t=－4.733, P<0.001], palmitoyl carnitine [(2.59±0.81) vs (2.73±0.82) μmol/L, t=－2.940, P=0.003], and carbamate [(0.066±0.022) vs (0.069±0.022) μmol/L, t=－1.937, P=0.042] were decreased compared with the non-GDM group. After adjusting for maternal gravidity, parity, neonatal birth weight, and gender, multivariate linear regression analysis showed that GDM was positively correlated with three amino acids levels, which were cysteine ( ?=0.012), homocysteine ( ?=0.263) and leucine ( ?=4.225); and was negatively correlated with glycine ( ?=－6.271) and piperamide level ( ?=－9.885). With regard to the fatty acids, GDM was positively correlated with the neonatal propionyl carnitine ( ?=0.214), butyryl carnitine ( ?=0.014), 3-hydroxybutyryl carnitine ( ?=0.006), isovaleryl carnitine ( ?=0.009), 3-hydroxyisovaleryl carnitine ( ?=0.024), hexadecanoyl carnitine ( ?=0.001), decadienoyl carnitine ( ?=0.045), octadecadienyl carnitine level ( ?=0.128), but was negatively correlated with palmitoyl carnitine ( ?=－0.119), and carbamate ( ?=－0.002) (all P<0.05). Conclusions:Correlations between maternal GDM and the levels of amino acids and fatty acids in neonates was noted in this study, suggesting that maternal GDM may affect the metabolism of amino acids and fatty acids in offspring at early stage of life.
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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.
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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.
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Preterm newborn infants are at risk for cerebral dysfunction and susceptible to seizures in the first weeks of life.Because of less reliable clinical signs,many seizures of preterm neonates are detectable only on electroencephalogram(EEG).Understanding EEG background patterns and features in these preterm infants is vital to provide appropriate treatment.As EEG background activities and patterns significantly depend on gestational age,some physiologic preterm EEG patterns,such as rhythmic temporal theta activity or delta brushes,may be sharply contoured and appear similar to epileptic EEG patterns later in life in preterm infants.Moreover,compared with full-term neonates,ictal patterns in preterm infants are of lower voltage and frequency.This article reviews current incidence of seizures in preterm infants and their typical ictal EEG patterns.It also discusses the influence of seizures on long-term outcome of preterm infants and distinguishes the pitfalls of EEG analysis.
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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.
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[Objective] To investigate of application value and nursing strategy during continuous infusion of enteral nutrition liquid for elderly stroke patients with long-term tracheostomy.[Methods] 100 elderly stroke patients underwent tracheostomy were randomly divided into the treatment group and the control group with 50 patients in each group.The treatment group received enteral nutrition by continuous infusion of enteral nutrition liquid.While the control group was given eateral nutrition by routine nasal feeding.The nutritional status and incidence of adverse reactions were compared between two groups.[Results] The albumin level in the treatment group at the second and third weeks was significantly higher than the control group,the difference was statistically significant.The incidence rate of gastroesophageal reflux,choking,aspiration,stomach retention,diarrhea,abdominal distension,stress ulcer was higher in the treatment group than that in the control group,the difference was statistically significant.[Conclusions] Continuous infusion of enteral nutrition liquid in elderly stroke patients with long-term tracheotomy can reduce complications caused by traditional nasal feeding,which is worthy of clinical application.
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Objective To investigate the relationship between self management behavior,life style and blood pressure control in patients with high blood pressure complicated with cerebral infarction,and discuss its nursing countermeasures.Methods 268 patients with high blood pressure complicated with cerebral infarction were recruited by stratified sampling and were investigated with a self-designed questionnaire about self management behavior,life style,and we analyzed the above influencing factors on the blood pressure control and the nursing countermeasures.Results Younger age,higher education degree,high standard of living,stronger self management ability,enough vegetables intake,low consumption of salt,alcohol and tobacco,and moderate physical exercises could control blood pressure better,older age,poorer self management ability,too much salt intake were detrimental to the control of blood pressure.Conclusions Effective self management and good life style can control high blood pressure well in patients with high blood pressure complicated with cerebral infarction,and improve the prognosis and the quality of life.
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Objective To evaluate the effects of therapeutic touch on the pain in patients being undergoing percutaneous laser disk decompression. Methods Ninety-one patients undergoing pereutaneous laser disk decompression were randomly as-signed to therapeutic touch group and routine care group. The intraoperative pain was assessed at the end of operation. Result There was significant difference in the level of pain between the two groups(P<0.05). Conclusion Therapeutie touch can alleviate intraoperative pain in patients undergoing percutuneous laser disk decompression.
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Objective To investigate the clinical value of laparoscopically assisted vaginal hysterectomy(LAVH).Methods A total of 125 cases of benign uterine diseases were freely divided into two groups: 65 cases was given LAVH(LAVH Group) and 60 cases was given traditional total abdominal hysterectomy(TAH Group).Results The operation time was 127?4.1 min in the LAVH Group and 70?1.7 min in the TAH Group(t=99.669,P=0.000).The blood loss was 80?23.1 ml in the LAVH Group and 190.8?53 ml in the TAH Group(t=-15.339,P=0.000).The incidence of postoperative complications was 30.8%(20/65) in the LAVH Group and 58.3%(35/60) in the TAH Group,with significant difference between the two groups(?~2=9.621,P=0.002).Conclusions LAVH has advantages of micro-invasion,little blood loss,and quick recovery,being an ideal procedure.