Child ; Humans ; Mitochondrial Diseases ; diagnosis ; Pediatrics

Objective To prospectively observe the changes of amplitude-integrated electroencephalogram(aEEG) in neonates with hypoxic-ischemic encephalopathy (HIE).Methods Thirty-five HIE neonates with gestational age of 37 ～ 41 weeks were chosen as HIE group,and all of them were hospitalized in neonatal intensive care unit of Bethune International Peace Hospital from Aug 2011 to Jan 2012.At the same time,40 healthy term neonates were chosen as control group.aEEG monitoring was done within 24 ～ 48 hours after birth with cerebral function monitor (CF3000) and each recording last at least 8 hours.The continuity,sleep-wake cycle,voltage of every aEEG tracing were analyzed.Results (1) The maximal voltage of aEEG tracing in control group was 30 μV,while that in HIE group was 16 μV.The minimal voltage of aEEG tracing in control group was 13 μV,while that in HIE group was 7 μV.The aEEG tracing amplitude both in highest and lowest in HIE group were significantly lower than those in the control group.There were significant differences between them (P ＜ 0.05).(2) There was significant difference of sleep-wake cycling between HIE group and control group[20％ (7/35) vs 100％ (40/40),x2 =51.064,P ＜ 0.05].While there was also significant difference of the continuity of the amplitude between HIE group and control group[31％ (11/35)vs 100％ (40/40),x2 =40.336,P ＜0.05].Conclusion aEEG has some specific changes in neonates with HIE,possiblility it can be used for earlier predicting the occurrence of brain damage after asphyxia and provides good evidence for the early diagnosis and treatment of HIE.

Objective To study the clinic value of brain edema detected by ultrasound examination in high risk term infants. Meth-ods The study group included 140 term infants who were found having brain edema in cranial ultrasound examinations. 152 term infants with normal ultrasound scan were selected as a control group. The risk factors of brain edema were collected, and univariate analysis and multivariate logistic regression analysis were performed. Results (1) There was no difference of incidence of brain edema between the infants with or without maternal ill historys, fetal distress or hypoalbuminemia, with P > 0.05. (2) In the univariate regression model, as-phyxia,hypoxic -ischemic encephalopathy (HIE) ,ventilation and metabolic acidosis were associated with an increased risk of brain ede-ma. In the multivariate logistic regression model, HIE was associated with a greater risk of brain edema and ventilation was possibly asso-ciated with brain edema. Conclusion Brain edema detected by ultrasound examination in high risk term infants has close relationship with HIE. It suggest that there is a consistency between ultrasound results and clinic situation. The detection of brain edema by ultrasound can assist doctor in clinic practice.

Objectives To investigate the clinical characteristics of hypoglycemic brain damage, and to assess the ifndings of amplitude-integrated electroencephalography (aEEG) and its predictive value in hypoglycemic brain damage. Methods Twenty-four neonates diagnosed with hypoglycaemia were selected. 12-hour continuous aEEG recordings were performed on the day when hypoglycaemia was diagnosed and second aEEG tracings was performed on the same day or the day after. The variability of aEEG background, appearance of sleep-wake cycling, bandwidth span and amplitude of lower border were analysed and compared with the results of brain MRI. Results Different degrees of epileptic seizures were found in neonates with severe hypoglycemic brain damage and were persisted after the blood sugar was corrected. aEEG in hypoglycemic brain damage was characterized by calyptriform or jagged epileptiform activity, disappearance of the sleep-wake cycle, but little impact on amplitude of lower border and bandwidth span. The recovery of sleep-wake cycle was a sign of brain function recovery. The aEEG and MRI had a good consistency in monitoring the hypoglycemic brain damage. Conclusions aEEG have signiifcant changes in hypoglycemic brain damage and can be used to monitor dynamically hypo-glycemic brain damage.

Objective Therapeutic hypothermia has become a standard neuroprotective treatment in term newborn infants following perinatal asphyxia,but active cooling with whole body surface or head cooling is both complex and expensive.The clinical feasibility of passive cooling in treatment of full term infants with severe asphyxia was investigated.Methods Thirty-two severe asphyxiated term newborns treated with hypothermia were analyzed,who were randomly divided into 2 groups:passive cooling group(n =17) and active cooling group(n =15).Active cooling group adopted MTRE ALLONTM-thermo regulatory systems,passive cooling group using natural cooling method.Hypothermia treatment time was 72 hours.At the end of treatment,the clinical manifestations,biochemical parameters and clinical efficacy of infants between the 2 groups were compared.Results During treatment all infants had no cardiac arrhythmia,hypoglycemia,sustained metabolic acidosis,blood-borne infections,local cold injury or bleeding.Infants in passive cooling group had a relatively wide range of rectal temperature fluctuations[average (33.47-0.71) ℃] and infants in active cooling group had a relatively narrow range of rectal temperature fluctuations[average (33.66 ± 0.29) ℃],but there was no statistically significant difference in their mean rectal temperature(t =1.941,P =0.055).One patient died in active cooling group,but there were no significant differences in suckling age,length of hospital stay,neonatal behavioral neurological assessment score,abnormal cranial ultrasound and MRI between the survivors of the two groups(all P ＞0.05).Conclusions In NICU,environmental temperature is relatively stable,passive cooling for asphyxiated newborns appears to be feasible for maintenance of hypothermia with a lower risk of adverse reactions.

Objective To explore the clinical significance of the serum brain?derived neurotrophic factor( BDNF) level in severe neonatal hyperbilirubinemia. Methods One hundred and twenty term and birth weight>2500 g infants admitted to the Neonatal Intensive Care Unit of Bethune nternational Peace Hospital of People Liberation Army were divided into severe hyperbilirubinemia group and control group according to their total bilirubin concentration. Total bilirubin( TBIL) concentration,BDNF and albumin in serum were determined in two groups. In addition, craniocerebral MRI was performed in severe neonatal hyperbilirubinemia before discharge. The correlation of the BDNF, TBIL, B/A, MRI results between severe hyperbilirubinemia group and control group were compared. Results The serum BDNF levels in severe hyperbilirubinemia group was ( 8. 84 ±3. 26) μg/L,significantly higher than that in control group((6. 24±1. 71) μg/L,t=3. 88,P<0. 05). In severe hyperbilirubinemia group,BDNF level was positively correlated with B/A level(r=0. 429,P<0. 05),but there was no correlation between BDNF and total bilirubin level(r=0. 278,P>0. 05). The serum BDNF level with craniocerebral MRI abnormal was ( 9. 53 ± 2. 77 ) μg/L, higher than that with craniocerebral MRI abnormal ((7. 81±3. 76) μg/L),but there was no statistical difference between them(t=1. 439,P>0. 05). Conclusion In severe neonatal hyperbilirubinemia, the body can secrete BDNF increasely. BDNF level is positivelycorrelated with B/ A level. As a marker of brain damage,BDNF is sensitive than craniocerebral MRI.

Objective:To explore the effect of post-pyloric feeding by spiral nasoenteric tubes on the prognosis of critically ill patients with acute gastrointestinal injury (AGI) grade Ⅱ.Methods:A retrospective study was performed to analyze the clinical data of critically ill adult patients with AGI grade Ⅱ, who were enrolled in three randomized controlled trials conducted by Guangdong Provincial People's Hospital for post-pyloric tube placement between April 2012 and May 2019. Data including demographic characteristics, serological indicators of nutrition, the tube tip position confirmed by abdominal X-ray 24 h after tube insertion, and intensive care unit (ICU), 28-day and hospital mortality were collected. Patients were divided into the post-pyloric feeding group and gastric feeding group according to the tube tip position. Propensity score matching method was used to perform 1:1 matching, and the differences of each index between the two groups were compared after matching. Then the influencing factors of P<0.1 were included in multivariate logistic regression analysis to investigate the potential ICU mortality risk factors of critically ill patients with AGI gradeⅡ. Factors with 0.1 level of significance from the univariate analysis were considered in the multivariate analysis. Results:There were 90 patients in post-pyloric feeding group and 90 patients in the gastric feeding group. Demographics and clinical characteristics of study population were well balanced between the two groups after matching. ICU, 28-day and hospital mortality in the post-pyloric feeding group were significantly lower than those in the gastric feeding group (4.4% vs 15.6%, 14.4% vs 27.8%, 6.7% vs 17.8%, all P < 0.05). Multivariate logistic regression analysis indicated that post-pyloric feeding was an independent protective factor [odds ratio ( OR)=0.295, 95% confidence internal (95% CI): 0.091-0.959, P=0.042] and APACHEⅡ score was an independent risk factor ( OR=1.111, 95% CI: 1.025-1.203, P=0.010) for ICU mortality of critically ill patients with AGI gradeⅡ. Conclusions:Post-pyloric feeding for critically ill patients with AGI grade Ⅱ could decrease ICU mortality and is an independent protective factor against mortality.

Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.t test, Chi-square test and Fisher′s exact test were used for statistical analysis. Result: Thirty-five cases were diagnosed by gene detection, including 20 males and 15 females. The median onset age was 1 year (ranging from the neonatal period to 4.4 years old). The age of onset within 2 years accounted for 74%(26 cases). The onset age of initial symptoms, including developmental delay, developmental regression, and seizures, were 6 (4, 12) months, 12 (8, 14) months, and 6 (1, 23) months respectively. The onset age of ptosis, extrapyramidal symptoms and ataxia were 26 (18, 44) months, 28 (23, 40) months and 28 (19, 35) months, respectively. There were significant differences in the onset age between the three groups (H=21.919, P=0.01). Within the 35 cases, 29 were manifested with developmental delay (83%), 26 with dystonia (74%), 18 with growth retardation, 15 with myasthenia, 13 with developmental regression, 11 with dysphagia, 10 with feeding difficulties, 4 with skeletal dysplasia, and 2 with digestive tract symptoms; nystagmus and respiratory abnormalities were observed in 9 cases respectively; extrapyramidal symptoms, peripheral nerve injury, ptosis, seizures were observed in 8 cases respectively; and ataxia, ophthalmoplegia and hypertrichiasis were found in 5 cases respectively.The blood lactic acid was measured in 32 LS patients, within which 23 cases (72%) had increased results; 8 out of 11 cases who underwent were cerebrospinal fluid lactic acid test had increased results. The results of neuroimaging revealed that all the patients were involved in the brainstem and (or) basal ganglia, of whom 27 (77%) had brainstem involvement, 24 (69%) had basal ganglia involvement. Thirteen out of 14 patients who had medulla oblongata involvement had nDNA variation; while 7 out of 8 patients with cerebellar involvement had nDNA variation. Genetic etiology was confirmed in all patients, among whom there were 17 cases (49%) with mtDNA mutation, including 8993T>C/G (n=5), 14487T>C (n=4), 13513G>A (n=2), 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A (n=1) respectively. Remaining 18 cases(51%) had nDNA mutation, including SURF1 gene(n=10), PDHA1 gene(n=3) and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7 genes. In this study, 27 types of mutations were founded, 15 of which had not been previously reported. Respiratory chain gene mutations have been found in 31 cases(89%); 3 cases had PDHc gene mutations, and 1 case had other mutation. Conclusion LS usually occurs in infants. The most common primary symptoms are age-dependent abnormal movements, ocular symptoms, and seizures. Respiratory chain defects is the most common causes of LS.SURF1 is the most common variation, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.

Characterized by impaired neuromuscular transmission, congenital myasthenic syndromes (CMS) are a group of genetic disorders.The main manifestations include fatigue and weakness of skeletal muscle, with most onset in infant or early childhood.The common cause of death is respiratory failure, with high disability rate.With the improvement of gene sequencing technology and the in-depth study on the structure and function of pathogenic proteins, the pathogenesis of the disease has been deeply understood in the past 20 years.Early diagnosis and treatment can significantly improve the symptoms in patients.In this manuscript, the etiology, clinical characteristics, diagnosis and treatment of CMS are reviewed.

Objective To explore the effect of social relationship quality intervention on blood pressure and mental state of patients after hypertensive hemorrhage. Methods From November 2014 to March 2016,48 patients with hypertensive intracerebral hemorrhage were assigned as control group and another 48 patients with the same disease in our hospitalfrom April 2016 to August 2017 as observation group:The former received routine nursing care and the latter was treated with social relationship quality intervention plus the routine nursing care.The blood pressure and mental states before intervention were compared with those 1 month after intervention. Result After intervention,the systolic and diastolic blood pressures in the observation group were significantly lower than those in the control group,and the scores on resilience,optimism and strength were all significantly higher than those in the control group (P<0.01, P<0.001). Conclusions The social relationship quality intervention is effective in the care to patients with hypertensive cerebral hemorrhage. It can effectively improve the clinical efficacy, reduce blood pressure and improve mental state, worthy of clinical application and promotion.