Objective To investigate the causes, diagnosis and treatment of infants with secondary methylmalonic aciduria due to maternal vitamin B 12 deficiency. Methods The clinical, laboratory data and treatment of 7 children with secondary methylmalonic aciduria and their mothers′ health and nutrition were retrospectively reviewed. Results All children were presented to the hospital with vomiting, seizures or mental retardation during 1 to 13 months after birth. Varied degrees of anemia was found in 6 infants and 5 with metabolic acidosis and liver dysfunction. Methylmalonic aciduria was found in all subjects. Four of the mothers had chronic gastritis, one with gallstones in liver and gallbladder and one was a vegetarian. Decreased serum level of vitamin B 12 and folic acid and elevated homocystine concentrations were found in all mothers. After vitamin B 12 and folic acid supplementation, significant improvement was observed in all patients. Six infants showed normal development and one had mild mental retardation. Conclusions Chronic gastritis, liver/gall bladder diseases or being a vegetarian might lead to maternal vitamin B 12 deficiency and then infantile secondary methylmalonic aciduria. Early diagnosis and vitamin B 12 and folic acid supplement are crucial in improving the prognosis.

Objective To study the evaluative values of amplitude integrated electroencephalogram (aEEG) in screening neonatal seizures.Methods The aEEG and video electroencephalogram (VEEG) on 32 patients with seizures hospitalized in Peking University First Hospital was conducted on the same day.The parameters of aEEG including the integrated spectra band,background rhythm and primitive electro signal were analyzed and compared with VEEG.Results Seizures presented clinically by 12 cases were detected by VEEG,and their electric discharges were detected by aEEG.The sensitivity of aEEG was 100%.VEEG showed electric discharges during intermediate stage in twenty cases and thus the seventeen of this group were detected by aEEG with its sensitivity of 87% and 100% in the specificity.The positive and negative predictive values of aEEG were 80% and 100%,respectively.But aEEG could not discriminate the attack stage or intermediate stage electric discharges.The abnormal background activity was detected by VEEG in 13 cases and the sensitivity of aEEG was 100% and the specificity was 83%.The positive and negative predictive value by aEEG were 76% and 100% respectively.The electric discharges of 32 cases were detected by VEEG whenever they were in attack stage or intermediate stage.All electric discharges could be detected through primitive electro signal by aEEG.The electric discharges in 3 cases were not detected by integrated spectra band from aEEG,but were detected by primitive electro signal from aEEG.Conclusions The sensitivity and specificity in the screening of neonatal seizures by aEEG is useful and could be applied clinically as a simple and safe screening method for recognizing neonatal seizures.

Objective To investigate the effect of neonatal hypoxic myocardial injury and bradycardia on cerebral hemodynamics and brain tissue regional oxygen saturation (rSO2),and to provide patho-physiological evidence for treatment of neonatal hypoxic-ischemic encephalopathy (HIE) in acute phase.Methods Ninety nine full-term newborns admitted into Department of Neonatology,Peking University First Hospital from December,2005 to December,2008 were enrolled in this study.There were 18 newborns with both myocardial injury and HIE (group 1),31 newborns with HIE but without myocardial injury (group 2) and 50 cases of neonatal jaundice (control group).From 3 to 7 days after birth,Doppler ultrasound was used to measure systolic velocity (Vs),diastolic velocity (Vd) and resistance index (RI) of the anterior cerebral artery; and brain tissue rSO2 was detected by near infrared spectroscopy.The differences among groups were compared by variance analysis and LSD test.Brain tissue rSO2 before and after treatment of 20 newborns with bradycardia for various causes were detected and the difference was compared by paired t test.Results (1) Vs of group 1,group 2 and the control group was (19.35±5.13),(29.35±4.28) and (32.62±7.47) cm/s respectively; Vd was (6.43±2.98),(11.21±3.16) and (11.50±3.03) cm/s; RI was 0.68±0.10,0.62±0.03 and 0.64±0.06; brain tissue rSO2 was (52.4± 2.8)％,(54.6±3.1)％ and (62.1±1.9)％.There were significant differences among the three group(F=29.999,19.393,5.283 and 137.952,P＜0.01).Vs,Vd and rSO2 of group 1 were lower than that of group 2 and the control group (P＜0.05).RI of group 1 was higher than that of group 2 and the control group (P＜0.05).Vs and rSO2 of group 2 were lower than that of control group,but there were no differences between the two groups in Vd and RI.(2) The brain tissue rSO2 of newborns with bradycardia after treatment was higher than that before treatment [(58.7±4.6)％ vs (50.9±3.2)％,t=6.239,P＜0.01].Conclusions The disturbance of cerebral hemodynamics and cerebral oxygenation in HIE newborns are aggravated by hypoxic myocardial injury.Stable heart rate might be very important to early treatment for HIE.

Objective:To investigate the neonatal outcomes and prognosis of fetuses who were prenatally diagnosed with intraventricular hemorrhage(IVH) to provide evidence for clinical consultation and management.Methods:Clinical data of fetal IVH cases ( n=89) diagnosed by fetal neurosonogram (NSG) in Peking University First Hospital from January 2012 to April 2020 were retrospectively collected, and neonatal outcomes were analyzed, involving fetuses with different grades of IVH and coexisting abnormalities. These patients were followed up for more than three months after birth. Two child development screening systems, Ages & Stages Questionnaires (Third Edition) (ASQ-3) and Ages & Stages Questionnaires: Social-Emotional (ASQ-SE), were used to assess the development of the patients from several aspects including physical growth, oral communication, motor ability and social emotions. Descriptive statistical analysis was used in this study. Results:(1) A total of 89 fetuses were enrolled and 66.3% (59/89) of them underwent fetal cranial MRI examination after ultrasound diagnosis. Among these 59 cases, 32(54.2%) had the same results with fetal NSG; 20(33.9%) with the diagnosis of remote ventricular cystic hemorrhage by fetal NSG, but misdiagnosed by MRI, were all confirmed by neonatal craniocerebral ultrasound; 7(11.9%) were lost to follow-up or terminated. In addition to IVH that was consistent with the ultrasound diagnosis, MRI also found three cases of cortical malformation, three cases of subdural hemorrhage and two cases of cerebral parenchymal hemorrhage. (2) Among the 89 cases, 37 (41.6%) underwent neonatal craniocerebral ultrasound examination after birth showing small amount of remote IVH, which was consistent with previous fetal NSG diagnosis. (3) There were 38 cases complicated by lateral ventricular widening (three lost to follow-up, 18 were terminated , one died in uterus, 15 with good and one with poor outcome), 10 cases by severe IVH sequelae (one lost to follow-up and nine were terminated) and 10 by craniocerebral malformation (one lost to follow-up, eight were terminated and one with poor neonatal prognosis). Two cases with extracranial malformation (ureteropelvic junction obstruction) were healthy after birth. (4) There were 29, 30, 16 and 14 cases of gradeⅠ,Ⅱ,Ⅲ andⅣ of fetal IVH, respectively. Among all cases, 12 were lost to follow-up; three died in uterus (all with gradeⅣ IVH); 31 were terminated and 43 were born and followed up. During the follow-up of the 43 cases, two (one grade Ⅰ case with corpus callosum dysplasia and one grade Ⅲ case with fetal cytomegalovirus infection) had poor prognosis, while the other 41 (one gradeⅢ, 17 gradeⅡ and 23 gradeⅠcases) showed no severe abnormalities.Conclusions:Fetal NSG is the first choice in screening fetal IVH and MRI can be a valuable aid. The neonatal prognosis may be associated with the grade of hemorrhage and coexisting abnormalities. Fetuses with isolated grade Ⅰ or Ⅱ IVH usually have a relatively good prognosis.

Thyroid diseases in fetuses and newborns are rare but can be severe in some cases. Early diagnosis and treatment are the keys to improve the prognosis. This review focuses on the diagnosis and treatment strategies of this disease during the fetal and neonatal periods. For fetuses with goiter, the main clinical issue is to differentiate hyperthyroidism or hypothyroidism and offer appropriate management on this basis. Management of maternal, fetal, and neonatal thyroid diseases requires an experienced multidisciplinary team including adult and pediatric endocrinologists, obstetricians, and sonographers.

Objective:To compare the newborn piglet models of hypoxic ischemic brain damage in hypoxia and hypoxia combined with occlusion of both carotid arteries. Methods: Twenty four 7-day-old piglets were divided into two groups. Group H: mechanical ventilation with low concentration of oxygen,Group HI; mechanical ventilation with low concentration of oxygen combined with occlusion of both carotid arteries. The piglets were inhaled with 10%, 8%, and 6% low-concentration oxygen for 30 min, and grouped into mild, moderate, and severe hypoxia ones. The changes of physiological parameter, cerebral blood flow and cerebral oxygen perfusion were detected. Results: There were no significant differences in blood gas analysis of oxygen saturation, blood lactic acid and pH between the two groups(P＞0. 05) . The mean arterial pressure of severe hypoxia in HI was significantly lower than in H(P＜0.05). The cerebral blood flow in H and HI was relatively stable after different degrees of hypoxia. As compared with the cerebral blood flow perfusion in group H and HI, there were no significant differences between them ( P>0. 05). The cerebral oxygen perfusion in H and HI was significantly descent after different degrees of hypoxia (P＜ 0.05). As compared with the cerebral oxygen perfusion in groups H and HI, there were no significant differences between them. Conclusion: H and HI have the same effect on physiological parameter, cerebral volume and cerebral oxygen perfusion of newborn piglets. The mechanical ventilation with low concentration of oxygen to newborn piglets can develop the HIBD model, it is not necessary to occlude carotid arteries.

Objective To study the relationship between Caspase-12 expression and the hyperoxia-induced corpus callosum damage. Methods A total of 12 groups of C57 / BL6 mice were randomly assigned into hyperoxia group (80% O2 ) and control group (21% O2 ) at day 6 after birth (P6). The pups were sacrificed after 24 h and 48 h of hyperoxia exposure and at P10, P12, P15 and P30. Immunohistochemical ( IHC) method was used to detect the expression of myelin basic protein (MBP) in corpus callosum. Real-time PCR, Western Blot and IHC were used to detect the expression of mRNA and protein of Caspase-12 in corpus callosum. The corpus callosum apoptosis was measured using terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling ( TUNEL ) method. Results The expression of MBP in hyperoxia group were significantly lower than the control group at P10 and P12 (P = 0. 004 and 0. 016); however, no significant differences existed between the two groups at P15 and P30 (P > 0. 05). The expression of Caspase-12 mRNA after 24 h and 48 h hyperoxia exposure were significantly higher than the control group [24 h: (1. 549 ± 0. 098) vs. (1. 080 ± 0. 101); 48 h:(1. 333 ± 0. 076) vs. (1. 022 ± 0. 089); P < 0. 05]. The expression of cleaved Caspase-12 protein after 24 h and 48 h hyperoxia exposure were also significantly higher than the control group [24 h: (1. 582 ± 0. 010) vs. (0. 994 ± 0. 078); 48 h: (1. 370 ± 0. 095) vs. (0. 978 ± 0. 069); P < 0. 05] . The Caspase-12 positive cell were significantly increased after 24 h and 48 h hyperoxia exposure comparing with the control group. The apoptosis index in hyperoxia group was significantly higher than the control group at P10 and P12 [P10: (18. 742 ± 2. 503) vs. (4. 587 ± 2. 353); P12 (36. 184 ± 3. 655) vs. (5. 351 ± 2. 678); P < 0. 05]. Conclusions Hyperoxia exposure induces corpus callosum damage in newborn mice. Over-expressed Caspase-12 may induce corpus callosum cell apoptosis excessively.

Objective To determine the prognosis and risk factors of neonatal cerebral infarction.Methods From January 2002 to December 2010,44 newborn infants were diagnosed with cerebral infarction by imaging examinations at Peking University First Hospital.The neurodevelopmental outcomes of these newborn infants were followed up and evaluated by clinical manifestations,Gesell development scale,cranial imaging,electroencephalogram and auditory evoked potential.Factors related to prognosis were analyzed with single and multi-factor Logistic regression analysis.Results Thirty-eight (86％) cases were followed up,and of these cases,five children died and the results of three were inconclusive due to small age (less than 6 months old).Among the remaining 30 children,neurodevelopmental outcome was normal in 15 cases and abnormal in the remaining 15 cases,thus,the incidence of sequelae was 50％ (15/30) and the mortality rate was 13％ (5/38).Of the 15 abnormal cases,all had cerebral palsy and movement retardation,eight cases had cognitive impairment,eight cases had epilepsy and five had visual impairment.The incidence of large cerebral infarction (more than one lobe) was 14/15,worse cranial imaging outcome (one month after treatment,cerebral infarction lesion still present or had expanded)was 13/15,and severe complications was 8/15 in the newborns with sequelae,which were higher than in those without sequelae (4/15,5/15 and 1/15,respectively) (x2=13.889,8.889 and 7.778,all P＜0.05).Logistic regression analysis showed that large cerebral infarction was a risk factor for sequelae (OR=38.500,95％C1:3.749-395.407,P=0.002),however,worse cranial imaging outcome (OR=8.563,95％CI:0.909-80.683,P=0.061) and severe complications (OR=18.024,95％CI:0.516-630.163,P=0.111) were not risk factors for sequelae.Cerebral infarction with middle cerebral artery injury had a high risk of movement retardation (OR=6.000,95％CI:1.172-3.725,P=0.025),and those with a large cerebral infarction were more likely to have epilepsy (x2=7.273,P=0.010).The incidence of large cerebral infarction in the newborn infants with cognitive impairment was 8/8,which was much higher than in those without cognitive impairment (46％,10/22),thus,infarct area may be related to cognitive ability (x2=7.273,P=0.010).Conclusions Neonatal cerebral infarction might result in many types of sequelae,with motor impairment being the most common form.A large cerebral infarction is more likely to result in abnormal neurodevelopmental outcome.

Objective To investigate the correlation between hypoglycemia and brain injury of newborns.Methods Medical records and follow-up data of 110 newborns with hypoglycemia (blood glucose level≤2.2 mmol/L) who admitted into neonatal department of Peking University First Hospital from December 2006 to December 2009 were studied.All patients were divided into 3 groups:no brain injury group,mild and severe brain injury group according to their clinical manifestation,cerebral radiological characteristics and cerebral functional tests.By using receiver operating characteristic (ROC) curve and x2 test,the potential optimal blood glucose level and duration of hypoglycemia for predicting brain injury were confirmed.Multivariate Logistic regression was taken to determine independent predictors for brain injury.The analyzed factors included gender,preterm/small for gestational age,hyperbillirubinemia,fetal distress,asphyxia,infection,seizures and maternal hypertensive disorder complicating pregnancy and hyperglycemia.Results Among the 110 hypoglycemia newborns,33 (30.0％) infants suffered from brain injury,of which 23 were mild and 10 were severe.Blood glucose ≤1.7 mmol/L had high specificity (73％) and sensitivity (60％)for predicting brain injury.When blood glucose≤ 1.7 mmol/L,the incidence of brain injury and severe brain injury was 43.6％ (24/55) and 18.2％ (10/55),which was higher than those [16.4％(9/55) and 0.0％ (0/55)] of patients whose glucose level ＞1.7 mmol/L(x2 =9.74 and 11.00,P＜0.01 respectively).Blood glucose ≤ 1.2 mmol/L had high specificity (100％) and sensitivity (81％) for predicting severe brain injury.When blood glucose ≤1.2 mmol/L,the incidence of severe brain injury was higher than that of the patients whose glucose level was higher than 1.2 mmol/L [34.5％ (10/29) vs 0.0％ (0/81),x2 =30.72,P＜0.01].Duration of hypoglycemia ≥12 h had specificity (100％) and sensitivity (36 ％) for predicting brain injury.When duration of hypoglycemia ＜12 h,the incidence of brain injury was lower than that of the patients whose duration of hypoglycemia≥12 h [21.4％ (21/98) vs 6/6,x2 =27.69,P＜0.01].Multivariate Logistic regression showed that fetal distress (OR=4.69,95％CI:1.47-14.97,P=0.009),glucose level≤1.2 mmol/L (OR =5.16,95％CI:1.56-17.03,P=0.007),duration of hypoglycemia≥12 h (OR=8 885 220 297.12,95％CI:0.00-∞,P =0.000) and maternal hyperglycemia (OR =3.34,95％CI:1.01-11.02,P=0.048) were independent risk factors for neonatal brain injury.Conclusions Low blood glucose level and prolonged hypoglycemia might induce injury of neurol system.Fetal distress and maternal hyperglycemia might increase the incidence of brain injury in newborns with hypoglycemia.

OBJECTIVE: To analysis the acoustic characteristics in patients with unilateral arytenoid dislocation and unilateral vocal fold paralysis, and evaluate the application value of acoustic analysis technique in these two diseases. METHOD: The voice signals of sustained vowel /a/ were measured using the software MDVP in 50 healthy adults and 67 patients with unilateral vocal cord movement disorders. The acoustic parameters (jitter, shimmer, NHR and F₀) were analyzed. All patients were divided into arytenoid dislocation group (36 cases) and vocal fold paralysis group (31 cases) through the laryngeal electromyography. All groups were divided into male and female group again. The acoustic characteristics between the two experimental groups and normal control groups were observed and compared. Results were analyzed using Rank sum test. RESULT: (1) In both male or female groups, there were significant differences in jitter and shimmer between two experimental group and control group. In both male or female groups, there were significant differences in NHR between arytenoid dislocation group and control group. There were no significant differences in NHR between vocal fold paralysis group and control group. Except for the male vocal fold paralysis group, there were significant differences in F between the other experimental groups and control groups. (2) In both male or female groups, there were no significant differences in jitter and shimmer between vocal fold paralysis group and arytenoid dislocation group. There were significant differences in NHR. CONCLUSION The acoustic parameters are effective parameters to measure the voice quality of patients with unilateral arytenoid dislocation and unilateral vocal fold paralysis. NHR is the most sensitive parameter in the distinction of vocal cord paralysis and arytenoid dislocation.
Acoustics ; Adult ; Arytenoid Cartilage ; physiopathology ; Case-Control Studies ; Electromyography ; Female ; Humans ; Male ; Software ; Vocal Cord Paralysis ; diagnosis ; Vocal Cords ; physiopathology ; Voice Quality