Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.

Objective:To investigate the characteristics of resting energy expenditure (REE) in children with cerebral palsy (CP) graded with different levels of Gross Motor Function Classification System (GMFCS), and to evaluate the accuracy and association of commonly used REE prediction formulas in children with CP.Methods:It was a retrospective study involving 36 children with CP aged 24-144 months who visited the Third Affiliated Hospital of Zhengzhou University between September 2021 and August 2022.REE was measured by the indirect calorimetry.Based on the GMFCS, children with CP were divided into grade Ⅰ-Ⅱ group (20 cases), grade Ⅲ group (6 cases) and grade Ⅳ-Ⅴ group(10 cases). During the same period, 11 age-matched healthy children were included in control group.The measured REE (MREE) between children with CP and healthy controls was compared.Predicted REE (PREE) calculated by the Harris-Benedict, WHO, Schofield-W, Schofield-WH and Oxford prediction formulas were compared with MREE in children for their consistency and correlation.Independent samples were analyzed using t-test or Mann- Whitney U test, and categorical data were analyzed using Chi- square test.Using paired t-test and Pearson linear correlation analysis to analyze the correlation between MREE and PREE.The accuracy of PREE values calculated by different formulas was assessed using the root mean square error. Results:The MREE in control group and children with CP were (952.18±270.56) kcal/d and (801.81±201.89) kcal/d, respectively.There was no significant difference in the MREE between grade Ⅰ-Ⅱ group versus control group[(868.30±194.81) kcal/d vs.(952.18±270.56) kcal/d, P>0.05], and grade Ⅲ group versus control group [(813.17±192.48) kcal/d vs.(952.18±270.56) kcal/d, P>0.05]. The MREE was significantly lower in grade Ⅳ-Ⅴ group than that of control group [666.00(513.50, 775.50) kcal/d vs.(952.18±270.56) kcal/d, P=0.011]. There were no significant difference between MREE and PREEs calculated by Harris-Benedict, WHO, Schofield-W, Schofield-WH, and Oxford (all P>0.05). The correct classification fraction calculated by the 5 formulas were 33.3%, 47.2%, 41.7%, 47.2%, and 41.7%, respectively.The r values of the consistency of PREE calculated by the 5 formulas were 0.585, 0.700, 0.703, 0.712, and 0.701, respectively.The Blande-Altman Limits of Agreement were (-297.77, 359.22), (-245.60, 326.94), (-250.62, 316.05), (-242.22, 177.36) and (-241.28, 325.81), respectively.The clinically acceptable range was -80.18 to 80.18 kcal/d.The root mean square error were 168.09 kcal/d, 149.64 kcal/d, 146.24 kcal/d, 144.23 kcal/d and 148.77 kcal/d, respectively. Conclusions:The MREE values decreased significantly in children with CP classified as CMFCS grade Ⅳ and Ⅴ.When REE cannot be regularly monitored by indirect calorimetry to develop nutritional support programs, children with CP may be prioritized to estimate REE using the prediction formula of Schofield-WH.

Objective:To analyze the status and influencing factors of early out of bed activity in patients after coronary artery bypass grafting.Methods:Using the convenient sampling method, patients who underwent coronary artery bypass grafting in Affiliated Hospital of Jining Medical University from January 2018 to December 2020 were selected as the research objects. The general situation questionnaire, the Chinese version of Brief Disease Cognition Questionnaire, Muscle Strength Rating Scale and Visual Analog Scale were used to investigate them. Binomial Logistic regression was used to analyze the influencing factors of early out of bed activity after coronary artery bypass grafting.Results:A total of 100 questionnaires were distributed in this study and 100 were recovered. The effective recovery rate of the questionnaire was 100%. 38% (38/100) of patients with coronary artery bypass grafting performed early out of bed activity within 72 hours after surgery. Binomial Logistic regression analysis showed that vascular bridge selection, postoperative pain, lower limb incision blister, lower limb muscle strength rating and disease awareness were the influencing factors of early out of bed activity after coronary artery bypass grafting ( P<0.05) . Conclusions:Vascular bridge selection, postoperative pain, lower limb incision blister, lower limb muscle strength rating and disease awareness were the influencing factors of early out of bed activity after coronary artery bypass grafting

Objective:To investigate the clinical application value of amplitude-integrated electroencephalogram (aEEG) in evaluating the prognosis of brain function in children with disturbance of consciousness.Methods:A total of 100 children with disturbance of consciousness admitted to the pediatric intensive care unit (PICU) in the Third Affiliated Hospital of Zhengzhou University from October 2018 to September 2019 were enrolled.All patients completed aEEG and video electroencephalogram (vEEG) (monitoring hours≥ 6 h), modified Glasgow coma scale (GCS) rating, peripheral blood brain injury marker S100β protein and neuron-specific enolase (NSE) detection within 48 hours of admission.The prognosis was evaluated based on the above results.The actual prognosis of the children was recorded by telephone follow-up based on the pediatric cerebral performance category score (PCPC) until 6 months of onset or clinical death.The receiver operating characteristic curve (ROC) was used to analyze and compare the clinical efficacy of aEEG, vEEG, improved GCS, S100β protein, and NSE in evaluating the prognosis of brain function in children with disturbance of consciousness. Kappa consistency test was made to evaluate the correlation between the estimated prognosis and the actual prognosis. Results:The area under the ROC curve (AUC) of aEEG, vEEG, improved GCS, S100β protein and NSE was 0.847, 0.810, 0.729, 0.685 and 0.784, respectively, indicating the five methods had statistically significant value in evaluating the prognosis of brain function (all P<0.05). Taking the Z value as the gold standard, the clinical efficacy of aEEG in evaluating the prognosis of brain function was significantly different from that of S100β ( Z>1.96, P<0.05), but showed no significant difference with that of other 3 methods.Using the best cut-off value as the gold standard for evaluating the prognosis, aEEG had the highest sensitivity to evaluate a poor prognosis (90.5%). The Kappa consistency test showed that the prognosis predicted by aEEG was consistent with the actual prognosis ( Kappa=0.550, P<0.01). Conclusions:aEEG has a good evaluation value for the brain function prognosis of children with disturbance of consciousness.aEEG has high sensitivity, and the predicated prognosis is consistent with the actual clinical prognosis, so it can be widely used in the diagnosis and treatment of PICU.

Objective To explore the changes of serum Clara cell secretory protein 16 (CC16), pulmonary surfactant protein D (SP-D) in children with pneumonia and its clinical significance. Methods A total of 81 pediatric patients with community-acquired pneumonia were selected, including severe pneumonia with mechanical ventilation group (n=21), severe pneumonia with non-mechanical ventilation group (n=30), mild pneumonia group (n=30), and the control group (n=20) was selected in the physical examination of healthy children over the same period. We detected the concentration of serum CC16, TNF-α, IL-6 and SP-D for the 4 groups by ELISA, and evaluated the clinical values of serum CC16, TNF-α, IL-6 and SP-D for severe pneumonia by using ROC curve.We recorded pulmonary dynamic compliance(Cdyn),airway resistance(Raw),peak inspiratory pressure (PIP), work of breathing (WOB) and other respiratory mechanical parameters, and analyzed the correlations between CC16 and TNF-α, IL-6, SP-D and respiratory mechanical parameters. Results The concentrations of serum CC16 in pneumonia group were all significantly lower than that in the control group, and those in severe pneumonia groups were lower than that in mild pneumonia group, and mechanical ventilation group was lower than that in non-mechanical ventilation; the concentration of serum TNF-α, IL-6 and SP-D in pneumonia groups were all obviously higher than that in the control group, and severe pneumonia group were higher than that in mild pneumonia group, and those in mechanical ventilation group were also higher than that in non-mechanical ventilation group (P<0.05). Compared to that before removing the ventilator, concentration of serum CC16 in severe pneumonia with mechanical ventilation group decreased significantly at 1 hour and lowered down at 72 hours; but the concentration of serum TNF-α, IL-6 and SP-D in severe pneumonia with mechanical ventilation increased significantly at 1 hour and went higher at 72 hours, the differences were all statistically significant (all of P<0.05); compared to that before weaning from the ventilator, the value of Cdyn decreased obviously in severe pneumonia with mechanical ventilation at 72 hours and lowered down at 1 hour; but the values of Raw, PIP, WOB in severe pneumonia with mechanical ventilation increased obviously at 72 hours and more higher at 1 hour, the differences were all statistically significant (all of P<0.05). The concentration of serum CC16 showed all negative correlations with TNF-α, IL-6 and SP-D, but it showed positive correlation with Cdyn(all of P<0.01).In the ROC curve,the area under the ROC curve of CC16,TNF-α,IL-6 and SP-D in serum was 0.905, 0.704, 0.832, 0.825, respectively (for all of which P<0.01). Conclusion The concentrations of serum CC16 and SP-D were associated with the severity of community acquired-pneumonia in children. The level of serum CC16 was positive associated with Cdyn in children with mechanical ventilation. CC16 has better prediction and evaluation effect on the change of severe pneumonia.

Objective To investigate the distribution and drug resistance of bacteria infection in children with pneumonia between pediatric intensive care ward and respiratory ward,in order to guide clinical treatment.Methods From 2010 January to 2014 January,two-hundred and sixty cases of pneumonia in hospitalized pediatric intensive care ward were included in the severe group,300 patients from respiratory ward into the common group,severe group were divided into the mechanical ventilation group (126 cases),non mechanical ventilation (134 cases),mechanical ventilation were divided into invasive ventilation group (94 cases),noninvasive ventilation group (32 cases).Conventional sputum specimens were detected,bacterial culture,identification and drug resistance of pathogenic bacteria ratio were done in each case,to compare the pathogenic bacteria and drug resistance rate of different groups.Results Both severe group and common group,gram negative bacteria were significantly higher than those of gram positive,But in the severe group,gram negative bacteria ratio was significantly higher than the common group (P ＜ 0.05),while the positive bacteria ratio was significantly lower than that of common group (P ＜ 0.05).Stenotrophomonas maltophilia,Acinetobacter and Pseudomonas aeruginosa ratio in severe group were significantly higher than that of common group (P ＜ 0.05),while the Haemophilus influenzae and Streptococcus pneumoniae in common group was significantly higher than the proportion of severe group (P ＜ 0.05).Stenotrophomonas maltophilia,Acinetobacter,Pseudomonas aeruginosa ratio in ventilation group was significantly higher than that of non ventilation group (P ＜ 0.05),and in the invasive ventilation group was significantly higher than the proportion of noninvasive ventilation group (P ＜ 0.05).Multi drug resistant bacteria detection rate in severe group was significantly higher than the common group (P ＜ 0.05).Conclusion Both pediatric intensive care ward and respiratory ward,bacterial lung infections are dominated by Gram negative bacteria,but bacteria spectrum and drug resistance have obvious difference,multi drug resistant bacteria detection rate in pediatric intensive care ward significantly higher than that of respiratory ward.Mechanical ventilation especially invasive mechanical ventilation may easily lead to drug-resistant strains.

Objective To explore the clinical features of methylmalonic acidemia (MMA) in children admitted to the pediatric intensive care unit, to help improve our understanding of MMA. Methods The clinical data of 21 patients with MMA admitted to our PICU from December 2012 to August 2016 were analyzed. Diagnosis were confirmed by gas chromatography-mass spectrometry, GC/MS. Results twenty-four of 158 suspected cases were confirmed as having organic acidemia diseases including 21 cases of MMA, one case of propionic acidemia, one case of urea cycle disorders, and one case of glutaric acidemia. The main clinical manifestations were feeding difficulty, malnutrition (13 cases), developmental retardation (12 cases), lethargy (10 cases), tricuspid severe reflux and pulmonary hypertension (1 case), hydrocephaly (5 cases), muscular dystonia (three cases with hypertonia, and four with hypotonia), convulsion (7 cases), apnea, sobbing respiration (10 cases), chromatosis (6 cases), anemia (13 cases), edema (6 cases), thrombocytopenia (6 cases), hematuria and proteinuria (2 cases). Five cases gave up therapy before diagnosis was made. Sixteen cases received the treatment with Vitamin B12 and supplementation of L-carnitine. Seven cases gave up after treatment without effect or deterioration of condition. Eight cases were vitamin B12-responsive, and one case was vitamin B12-nonresponsive. The follow-up for a period ranging from three months to two years, among eight vitamin B12-responsive cases, 6 cases showed a favorable outcome with apparent improvement, one case had no symptom and one patient died from severe pneumonia. Vitamin B12-nonresponsive case was still alive. Conclusions The clinical manifestations of MMA are non-specific. Urine organic acid analysis is critical to early diagnosis of MMA in high-risk patients. Timely diagnosis and appropriate long-term treatment are essential to improve the prognosis of the disease.

Objective To evaluate the relationship of high mobility group box 1 (HMGB1) and TLR4 with airway inflammation and the role of vitamin D.Methods Totally 24 BALB/c mice were randomly divided into control group,asthma group,and 1,25-(OH)2D3 group,each having 8 mice.The pathological changes in lung tissue of the mice were observed by hematoxylin-eosin (HE) staining,bronchial wall thickness was measured with computer pathological image analysis system software.The expressions of HMGB1 and TLR4 in lung tissue were detected by immunohistochemical method.Bronchoalveolar lavage fluid (BALF) was collected for cytological examination;the contents of HMGB1,TLR4,IL-4 and IFN-γ in BALF and the peripheral blood were detected by enzyme-linked immunosorbent assay (ELISA).Results The expressions of HMGB1 and TLR4 in lung tissue were stronger in asthma group,but weaker in intervention group.The total number of leukocytes as well as the percentages of eosinophils,neutrophils and lymphocytes increased significantly in BALF in asthma group,but significantly decreased in intervention group (all P ＜ 0.05).The ratio of monocyte/macrophage significantly decreased in asthma group,but increased significantly in intervention group (P＜0.05).The contents of HMGB1,TLR4 and IL-4 in BALF and the peripheral blood were significantly higher in asthma group than in control and intervention groups,whereas IFN-γ level was significantly lower than that in control and intervention groups (all P＜0.05).HMGB1 and TLR4 contents had a positive correlation with the total number of cells and IL-4 concentration in BALF,respectively (r1=0.796,0.730;r2=0.695,0.648;all P＜0.05).Conclusion HMGB1 and TLR4 were associated with airway inflammation and immune disorders.An appropriate amount of 1,25-(OH)2D3 can relieve airway inflammation,which may be associated with regulating Th1/Th2 cells balance.

Objective To explore the expression and significance of matrix metalloproteinases-9(MMP-9) and tissue inhibitors of matrix metalloproteinase-1(TIMP-1) in serum at acute phase of severe pneumonia in infants.Methods A total of 45 infants of pneumonia were selected and divided into 20 cases of severe pneumonia group and 25 cases of mild pneumonia group according to the severity of the disease,and all 45 infants were also divided into virus group of 24 cases and non-virus group of 21 cases on the basis of etiology.Additionally,20 cases of healthy children who accepted the physical examination at the same time were selected as the control group.Serum levels of MMP-9 and TIMP-1 were detected by using ELISA.Tidal breathing lung function was measured in all selected infants.Results Compared with the control group,the serum levels of MMP-9,TIMP-1 and MMP-9/TIMP-1 ratio of the infants with acute pneumonia were significantly higher,the severe pneumonia group were higher than the mild pneumonia group,and the virus group were higher than the non-virus group(P＜0.05).The ratio of the time to reach peak tidal expiratory flow to total expiratory time (TPTEF/TE) and the volume to reach peak tidal expiratory flow to total expiratory volume(VPTEF/VE) of pneumonia group in recovery period were significantly lower than those in the control group,severe pneumonia group were lower than those in the mild pneumonia group,and the virus group were lower than those in the non-virus group (all P＜0.05).There were no statistically significant about VT/kg among three groups.The serum MMP-9 levels and the MMP-9/TIMP-1 ratio were negatively correlated with TPTEF/TE and VPTEF/VE (r1=-0.459,-0.376; r2=-0.413,-0.327; all P＜0.05).Conclusion The serum levels of MMP-9 and the MMP-9/TIMP-1 ratio in the acute phase of infantile pneumonia are correlated with pneumonia severity and pulmonary function injury in recovery period,and the performance is particularly prominent in the viral pneumonia,and can be used as a prognosis monitoring indicator.

OBJECTIVETo observe the impacts of electroacupuncture (EA) on microgliacytes and astrocytes of cervical spinal cord in rats with thyroid incisional pain and explore the mechanism of acupuncture anesthesia in thyroid surgery.

METHODSSixty Wistar male rats were randomized into a normal group, a model group, a Futu (LI 18) group, a Hegu (LI 4)-Neiguan (PC 6) group and a Zusanli (ST 36)-Yanglingquan (GB 34) group, 12 rats in each one. Except the normal group, a longitudinal incision, about 1.5 cm in length was done along the neck midline in the rats of the rest groups to prepare the model of thyroid incisional pain. In the Futu (LI 18) group, the Hegu (LI 4)-Neiguan (PC 6) group and the Zusanli (ST 36)-Yanglingquan (GB 34) group, after modeling for 4 h, 24 h and 48 h, EA was applied to bilateral "Futu" (LI 18), "Hegu" (LI 4) "Neiguan" (PC 6) and"Zusanli" (ST 36) "Yanglingquan" (GB 34) separately, once a day, continuously for 3 days. In the normal group and the model group, no any intervention was applied. The thermal radiant apparatus was used to detect the thermal pain threshold (PT). The fluorescence quantitative RT-PCR and the Western blotting (WB) were used to determine the expressions of protein and gene of microglia activation markers Iba1 and CD11b and the astrocyte specific protein marker, glial fibrillary acid protein (GFAP) in cervical spinal cord (Cto C) after intervention in the rats of each group.

RESULTSAfter intervention, as compared with the normal group, in the model group, the neck PT was reduced apparently (<0.05), the expressions of Iba1 and CD11b and GFAP mRNA as well as the protein expressions in the spinal cord of Cto Cwere up-regulated apparently (<0.05,<0.01). As compared with the model group, in the Futu (LI 18) and the Hegu (LI 4)-Neiguan (PC 6) group, PT was increased significantly (both<0.05) and that did not change apparently in the Zusanli (ST 36)-Yanglingquan (GB 34) group (>0.05). In the Futu (LI 18) group, the protein and gene expressions of Iba1, CD11b and GFAP were lower than those in the model group (all<0.05). In the Hegu (LI 4)-Neiguan (PC 6) group, the expressions of Iba1 mRNA, CD11b protein, GFAP mRNA and protein were all lower apparently than those in the model group (all<0.05). In the Zusanli (ST 36)-Yanglingquan (GB 34) group, the expressions of Iba1, CD11b and GFAP proteins were not different significantly as compared with the model group (all>0.05). In the Zusanli (ST 36)-Yanglingquan (GB 34) group, the expressions of Iba1 mRNA and CD11b mRNA and protein expressions in the spinal cord of Cto Cwere higher apparently than those in the Futu (LI 18) group (<0.01,<0.05); the expressions of Iba1 mRNA and CD11b protein expressions were higher than those in the Hegu (LI 4)-Neiguan (PC 6) group (all<0.05); GFAP mRNA and protein expressions were higher apparently than those in the Futu (LI 18) group and the Hegu (LI 4)-Neiguan (PC 6) group (all<0.05).

CONCLUSIONSEA at "Futu" (LI 18) or "Hegu" (LI 4), "Neiguan" (PC 6) relieves the acute neck incisional pain in the rats and its effect may be closely relevant with the down-regulation of the activities of microgliacytes and astrocytes in the spinal cords.