CJCP
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2019 Vol.  21 No.  4
Published: 2019-04-25

A TOPIC OF PEDIATRIC DISASTER
CLINICAL RESEARCH
CASE ANALYSIS
A TOPIC OF PEDIATRIC DISASTER
305 Group of Pediatric Disaster, Pediatric Society, Chinese Medical Association, Pediatrics Committee, Medical Association of Chinese People's Liberation Army
Neonatal transport for disasters Hot!

Neonates are vulnerable to greater damage in disasters and thus have special needs for equipment and medical staff. It is necessary to establish a regional neonatal transport network, in order to provide a platform for effective information communication and resource sharing. Neonatal care centers for critically ill neonates at all levels need to develop a disaster response plan for neonatal transport, and master this plan. In case of disasters, neonatal transport should be directed at the government level, in order to arrange emergency transport resources in a unified, reasonable and efficient way. Meanwhile, the psychological needs of family members and rescue staff should be taken into account.

2019 Vol. 21 (4): 305-311 [Abstract] ( 2464 ) [HTML 1KB] [PDF 1095KB] ( 673 )
312 DUAN Xu-Dong, LI Jiu-Jun, SHI Yuan
Interpretation of the disaster response plans in the pediatric intensive care unit

In April 2018, the Group of Pediatric Disasters, Pediatric Society, Chinese Medical Association and Pediatric Committee, Medical Association of Chinese People's Liberation Army issued the disaster response plans in the pediatric intensive care unit (PICU). This article outlines the development of the plans and the implementation of PICU disaster rescue, along with ethical issues in the context of disasters and psychological reconstruction after a disaster.

2019 Vol. 21 (4): 312-316 [Abstract] ( 2579 ) [HTML 1KB] [PDF 1092KB] ( 717 )
317 WU Jie, WANG Quan, ZHENG Yuan-Zheng, ZHANG Cheng-Ye, WANG Long, HUO Feng
Causes and clinical features of children with traumatic brain injury: a retrospective analysis of 126 cases

Objective To investigate the causes and clinical features of children with traumatic brain injury (TBI) who need hospitalization or emergency observation. Methods A retrospective analysis was performed for the clinical data of 126 children with TBI who were admitted to the emergency department from January 1, 2014 to August 31, 2016, including causes of injury and clinical features. Results Of the 126 children, there were 95 boys and 31 girls, with a mean age of 2.8 years (range 0.8-5.5 years). The children aged < 1 year accounted for 38.1% (48/126), and 26 children died. The two most common types of TBI were epidural hematoma (54.0%) and subarachnoid hemorrhage (50.8%). Of the 126 children, 83 (65.9%) had a Glasgow Coma Scale score of ≤ 8 within 24 hours after admission. There were different causes of TBI and places where TBI occurred in different age groups. The two leading causes of TBI were falls (51.6%) and road traffic injuries (42.9%). Compared with those in the other age groups, the children in the age < 1 year group were most likely to experience injury due to falls (46%; P=0.023). Thirty-five percent of all TBI due to road traffic injuries occurred in the children aged 3-6 years (P < 0.001). Most TBI cases occurred at home (47.6%) or on roads/streets (45.2%). Among those who experienced TBI at home, the children aged < 1 year accounted for the highest proportion of 48% (P=0.002), and 53% of the patients aged 3-6 years experienced TBI on roads/streets. The most common cause of death in children with TBI was road traffic injury, which accounted for 69%. Among those who died, the children aged < 1 year accounted for the highest proportion (62%). Conclusions There are different causes of TBI and places where TBI occurs in different age groups. Among children with TBI, the children aged < 1 year account for the highest proportion and have the highest number of deaths, with falls at home as the most common cause of TBI. Children aged 3-6 years tend to suffer TBI due to road traffic injury. Road traffic injury is the leading cause of death.

2019 Vol. 21 (4): 317-322 [Abstract] ( 4504 ) [HTML 1KB] [PDF 1232KB] ( 1080 )
323 HUANG Hao, LI Ben, CHEN Yu, YUAN Yi, XIONG Peng, ZHANG Wen-Di, FU Li-Na, LIU Tong-Lin
Etiology and risk factors for childhood unintentional injuries: a retrospective analysis of data at a pediatric intensive care unit

Objective To investigate the etiology and risk factors for unintentional injuries in children admitted to the pediatric intensive care unit (PICU), and to provide a basis for preventing these injuries and decreasing the mortality rate. Methods A retrospective analysis was performed on the clinical data of children with unintentional injuries admitted to the PICU from December 2012 to December 2017. Results A total of 102 children with unintentional injuries were admitted to the PICU, which accounted for 3.30% (102/3087) of the overall PICU patients. The top three causes of unintentional injuries were food or drug poisoning, drowning, and foreign body ingestion and aspiration. The proportion of unintentional injuries in boys was significantly higher than in girls (P < 0.05). The younger children had a significantly higher proportion of unintentional injuries (P < 0.05). The cause of unintentional injuries was also related to age, and the common causes of unintentional injuries varied between different age groups. The proportion of unintentional injuries was not significantly different between children from urban and rural areas (P > 0.05). The logistic regression analysis showed that the number of organs with dysfunction after unintentional injuries, especially respiratory, cardiac, neurological, renal and hematological involvement, was closely associated with the mortality rate of children with unintentional injuries (P < 0.05); however, it is not an independent risk factor (P > 0.05). Conclusions Prevention is the key to decreasing the incidence of childhood unintentional injuries. Preventive measures should be taken based on patient's sex and age and the cause of unintentional injuries. The spread of first aid knowledge, improvement in emergency transportation, and more attention to organ protection may be useful for decreasing the mortality rate of children with unintentional injuries.

2019 Vol. 21 (4): 323-326 [Abstract] ( 3335 ) [HTML 1KB] [PDF 1190KB] ( 762 )
316
2019 Vol. 21 (4): 316-316 [Abstract] ( 1153 ) [HTML 1KB] [PDF 841KB] ( 440 )
358
2019 Vol. 21 (4): 358-358 [Abstract] ( 996 ) [HTML 1KB] [PDF 872KB] ( 363 )
CLINICAL RESEARCH
327 QIU Ru-Xin, LIU Xin, WANG Jia-Li, CAI Cheng, ZENG Jun-An, LIU Han-Chu, CHENG Rui, LI Zhan-Kui, LIU Jing
Clinical effect of exogenous pulmonary surfactant in the treatment of severe neonatal infectious pneumonia: a multicenter prospective clinical trial

Objective To study the clinical effect of calsurf, a domestic exogenous pulmonary surfactant, in the treatment of severe neonatal infectious pneumonia. Methods A total of 208 neonates with severe infectious pneumonia who hospitalized in 5 hospitals of China were enrolled. According to their parents' wishes on admission, these neonates were administered with conventional treatment (control group; n=81) and calsurf treatment + conventional treatment (calsurf treatment group, n=127). The two groups were compared in terms of the degree of oxygen dependence on admission, blood gas parameters before and after treatment, lung ultrasound results, duration of mechanical ventilation, length of hospital stay, hospital costs, complications and prognosis. Results Compared with the control group on admission, the calsurf treatment group had significantly higher inhaled oxygen concentration and partial pressure of carbon dioxide and significantly lower arterial partial pressure of oxygen and oxygenation index (P < 0.01). After 1 hour of treatment, both groups had significant improvements in the above indices (P < 0.05), and the improvements were more significant in the calsurf treatment group (P < 0.05). After 4-6 hours of calsurf administration, there was a significant reduction in the degree of pulmonary consolidation. The calsurf treatment group had significantly shorter duration of mechanical ventilation and length of hospital stay than the control group, while there was no significant difference in the incidence rate of complications between the two groups. The neonates of both groups had a good prognosis. Conclusions In neonates with severe infectious pneumonia, calsurf treatment can significantly improve oxygenation, reduce the degree of pulmonary consolidation, and shorten the duration of mechanical ventilation and length of hospital stay. Therefore, it should be considered in neonates with severe infectious pneumonia.

2019 Vol. 21 (4): 327-331 [Abstract] ( 4735 ) [HTML 1KB] [PDF 1394KB] ( 1063 )
332 LIU Xiao-Yan, WANG Bing-Ling, YI Ming-Ji, ZHANG Feng-Hua
Association of exposure to polycyclic aromatic hydrocarbons during pregnancy with autism spectrum disorder-related behaviors in toddlers: a birth cohort study

Objective To study the association of exposure to polycyclic aromatic hydrocarbons (PAH) during pregnancy and autism spectrum disorder (ASD)-related behaviors in toddlers. Methods A total of 348 toddlers who had accepted the measurement of PAH-DNA adduct in umbilical cord blood and evaluation of behavior problems at the age of 36 months were enrolled in this birth cohort study. Child Behavior Checklist (CBCL) and Autism Behavior Checklist (ABC) were used to evaluate behavior problems at the age of 36 months. The correlation of the concentration of PAH-DNA adduct in umbilical cord blood with CBCL and ABC scores at the age of 36 months were analyzed. Results The detection rate of PAH-DNA adduct in umbilical cord blood was 52.3%, and the median concentration was 0.68 ng/mL. The median total scores of CBCL and ABC scales were 23 and 8 respectively. In children aged 36 months, the concentration of PAH-DNA adduct was positively correlated with the score of social withdrawal in the CBCL scale (rs=0.205, P < 0.05), the total score of the ABC scale (rs=0.412, P < 0.05), and the selfcare score of the ABC scale (rs=0.355, P < 0.05). The concentration of PAH-DNA adduct was closely associated with the total score of the ABC scale in children aged 36 months (β=0.122, P < 0.05). Conclusions PAH exposure during pregnancy may be a risk factor for ASD-related behaviors in toddlers. Effective reduction of PAH exposure during pregnancy and detection of PAH-DNA adduct in neonatal umbilical cord blood are of vital importance for early prevention, screening and intervention of ASD.

2019 Vol. 21 (4): 332-336 [Abstract] ( 2818 ) [HTML 1KB] [PDF 1269KB] ( 731 )
337 FENG Jun-Yan, LI Hong-Hua, SHAN Ling, WANG Bing, JIA Fei-Yong, DU Lin
Clinical effect of vitamin D3 combined with the Early Start Denver Model in the treatment of autism spectrum disorder in toddlers

Objective To study the clinical effect of vitamin D3 (VitD3) combined with the Early Start Denver Model (ESDM) in the treatment of autism spectrum disorder (ASD) in toddlers. Methods A total of 102 toddlers with ASD, aged 1 to 3 years, were enrolled. According to the wishes of their parents, they were divided into conventional rehabilitation, ESDM and ESDM+VitD3 groups. Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) were used evaluate behavior problems before treatment and after 3 months of treatment. Results The conventional rehabilitation group had significant reductions in the total score and the scores on somatic movement and self-care subscales of the ABC scale after 3 months of treatment (P < 0.05). After 3 months of treatment, the ESDM group had significant reductions in the total score and the scores on somatic movement, self-care, social interaction and language subscales of the ABC scale (P < 0.05), as well as a significant reduction in the total score of the CARS (P < 0.05). After 3 months of treatment, the ESDM+VitD3 group had a significant increase in the level of 25(OH)D and significant reductions in the total score and the scores on self-care, sensation, social interaction and language subscales of the ABC scale (P < 0.05), as well as a significant reduction in the total score of the CARS (P < 0.05). The ESDM group had a significantly greater reduction in the score on social interaction subscale than the conventional rehabilitation group (P < 0.05). The ESDM+VitD3 group had a significantly greater reduction in the score on social interaction subscale than the other two groups (P < 0.05). Conclusions ESDM can effectively improve the clinical symptoms of toddlers with ASD, with a significantly better clinical effect in improving social interaction and somatic movement than conventional rehabilitation. ESDM combined with VitD3 has a significantly better clinical effect in improving social communication skills and may be one of the best strategies for improving the clinical symptoms of toddlers with ASD.

2019 Vol. 21 (4): 337-341 [Abstract] ( 3478 ) [HTML 1KB] [PDF 1331KB] ( 998 )
342 WANG Yan-Xia, LU Guo-Bin, GE Pin, OU Ping, LIU Gui-Hua, QIAN Qin-Fang, LI Guo-Kai, HUANG Yan, XIE YanQin, WANG Zhang-Qiong, YU Qiu-Juan
Clinical efficacy of interactive group sandplay versus individual sandplay in the treatment of preschool children with autism spectrum disorder

Objective To study the clinical efficacy of interactive group sandplay versus individual sandplay in the treatment of preschool children with autism spectrum disorder (ASD). Methods A total of 80 ASD children, aged 4-6 years, were enrolled and randomly divided into experimental and control groups, with 40 children in each group. The children in the experimental group joined group sandplay with normal children at a ratio of 1:3, and those in the control group were treated with individual sandplay. The Aberrant Behavior Checklist (ABC) and Autism Treatment Evaluation Checklist (ATEC) were used to evaluate the treatment outcome after three months of intervention. Results There were 33 children in the experimental group and 28 in the control group. After three months of intervention, the experimental group had significant reductions in the scores of irritability, social withdrawal, and stereotypic behavior and the total score of the ABC scale (P < 0.05), and the control group had significant reductions in the scores of behavior and inappropriate speech and the total score of the ABC scale (P < 0.05). Compared with the control group, the experimental group had significantly greater improvements in the score of social withdrawal and the total score of the ABC scale after three months of intervention (P < 0.05). After three months of intervention, the experimental group had significant reductions in the scores of sociability, sensory and cognitive awareness, and physical/health behavior and the total score of the ATEC scale (P < 0.05), and the control group had significant reductions in the scores of speech, sociability, and physical/health behavior and the total score of the ATEC scale (P < 0.05). Compared with the control group, the experimental group had significantly greater improvements in the scores of speech, sociability, and sensory and cognitive awareness and the total score of the ATEC scale after intervention (P < 0.01). Compared with the control group, the experimental group also had significantly greater improvements in eye contact and sand stereotyped arrangement (P < 0.05). Conclusions Both interactive group sandplay and individual sandplay are effective in the treatment of ASD in preschool children. Interactive group sandplay is better than individual sandplay in the treatment of ASD, with significant improvements in sociability, emotion and stereotypic behavior.

2019 Vol. 21 (4): 342-347 [Abstract] ( 4408 ) [HTML 1KB] [PDF 1378KB] ( 1351 )
348 MENG Li-Ping, DAI Yuan-Yuan
A clinical analysis of electrical status epilepticus during sleep in children and a follow-up study of methylprednisolone pulse therapy

Objective To study the clinical features of electrical status epilepticus during sleep (ESES) in children, as well as the clinical effect of methylprednisolone pulse therapy in children with ESES. Methods A retrospective analysis was performed using the clinical data of 78 children with ESES. Among these children, 56 children who had had the failure of antiepileptic drugs were treated with methylprednisolone pulse therapy at a dose of 15-20 mg/(kg·d) for three courses. Each course of treatment was 3 days, followed by oral prednisone[1-2 mg/(kg·d)] for 3 days. The role of methylprednisolone pulse therapy in eliminating ESES, controlling clinical seizures, and improving intelligence and behaviors was analyzed. Results The mean age of onset of epilepsy in 78 children was 6.8±2.4 years, and the mean age for the first occurrence of ESES was 7.6±2.5 years. Compared with normal children, children with ESES had delayed intelligence development and higher scores of some behavior problems. Methylprednisolone pulse therapy had an overall response rate of 73% (41/56) on clinical seizures, and the overall response rate on electroencephalography (EEG)/spike-wave index was 70% (39/56) after treatment. There were significant improvements in verbal intelligence quotient, performance intelligence quotient and full intelligence quotient, and significant reductions in the scores of learning problems, impulse-hyperactivity and hyperactivity index after treatment (P < 0.05). The overall recurrence rate after 1-year follow-up was 29% (11/38). Conclusions ESES often presents around school age and impairs children's intelligence and behaviors. Methylprednisolone pulse therapy has a marked efficiency in reducing clinical seizures and EEG discharges in children with ESES and can improve intelligence and behavior development, but the recurrence rate remains high.

2019 Vol. 21 (4): 348-353 [Abstract] ( 2869 ) [HTML 1KB] [PDF 1370KB] ( 807 )
354 ZHAO Qi-Yu, ZHENG Yang, WANG Xiao-Ming
Clinical and imaging features of cerebral infarction in children

Objective To summarize and analyze the etiology, clinical manifestations and imaging features of children with cerebral infarction. Methods A retrospective analysis was performed for the clinical data of 54 children with cerebral infarction, including etiology, clinical manifestations, distribution of infarcts, type of infarcts and clinical outcome. Results Of the 54 children, 93% had a clear cause, among whom 46% had the coexistence of multiple factors, and the top three causes were infection (54%), vascular disease (40%) and trauma (26%). Major clinical manifestations included limb paralysis (85%), pyrexia (20%), disturbance of consciousness (19%) and convulsion (17%). As for the location of infarcts, 80% of the infarcts were located in the cerebral cortex and 52% in the basal ganglia. Major types of infarcts were small-area infarcts (74%) and multifocal infarcts (56%). Viral encephalitis was the most common cause of cerebral infarction caused by infection, with the cerebral cortex as the most common location of infarcts (21/23, 91%) and multiple infarcts as the most common type of infarcts (13/23, 57%). Among the 12 children with cerebral infarction caused by nonspecific endarteritis, 10 (83%) had infarcts located in the basal ganglia and only one child had multiple infarcts. Among the five children with cerebral infarction caused by moyamoya disease, four children (80%) had infarcts located in the cerebral cortex, and large-area infarction (4/5, 80%) and multifocal infarction (4/5, 80%) were the major types of infarcts. Among the children with traumatic cerebral infarcts, 92% had infarcts located in the basal ganglia, and small-area infarcts (92%) and single infarcts (85%) were the major types of infarcts. Among the 46 children with limb paralysis, 34 (74%) had infarcts located in the basal ganglia; 50% of the children with disturbance of consciousness had infarcts located in the basal ganglia. Subcortical infarcts were observed in all six children with epilepsy. Seventyfive percent of the infarcts located in the cerebral cortex and 87% of the infarcts located in the basal ganglia had a good prognosis. Among the two children with cerebral infarcts located in the brainstem, one had the sequela of hemiplegia and the other had the sequela of cognitive impairment. Eighty-eight percent of the children with cerebral infarction caused by infection and 82% of the children with traumatic cerebral infarction tended to have a good prognosis, and 83% of the children with cerebral infarction caused by nonspecific endarteritis had good prognosis. Recurrence was observed in all three children with cerebral infarction caused by vascular malformations. Of the five children with cerebral infarction caused by moyamoya disease, one child died and four children survived with the sequela of localized brain atrophy, among whom one child also had the sequela of epilepsy. Conclusions Infection, vascular disease and trauma are the most common causes of cerebral infarction in children, and limb paralysis is the most common clinical manifestation. Cerebral cortex is the most common infarct site, and small-area infarcts and multifocal infarcts are the most common types of infarcts, which tend to have a better prognosis.

2019 Vol. 21 (4): 354-358 [Abstract] ( 3518 ) [HTML 1KB] [PDF 1231KB] ( 1285 )
359 OUYANG Mei-Fei, WANG Dan, LIU Ying-Ting, XU Lin-Yong, ZHAO Ming-Yi, YIN Xiao-Cheng, XIE Min, YANG LiangChun, YANG Ming-Hua
Value of S100A8 in evaluating the prognosis of children with acute lymphoblastic leukemia

Objective To study the association between S100A8 expression and prognosis in children with acute lymphoblastic leukemia (ALL). Methods The clinical data of 377 children with ALL who were treated with the CCLG-2008-ALL regimen were retrospectively reviewed. ELISA and PCR were used to measure serum protein levels and mRNA expression of S100A8. The Kaplan-Meier method was used for survival analysis and a Cox regression analysis was also performed. Results The children were followed up for 56 months, and the overall survival rate of the 377 children was 89.1%. The prednisone good response group had significantly lower S100A8 protein and mRNA levels than the prednisone poor response group (P < 0.01). In the children with standard or median risk, both S100A8 protein and mRNA levels were associated with event-free survival rate (P < 0.05). There were significant differences in S100A8 protein and mRNA levels between the children with different risk stratifications (P < 0.01). The children who experienced events had significantly higher S100A8 protein and mRNA levels than those who did not (P < 0.01). The Kaplan-Meier survival analysis and the Cox regression model suggested that S100A8 overexpression was an independent risk factor for the prognosis of children with ALL. Conclusions High S100A8 expression may be associated with the poor prognosis of children with ALL and is promising as a new marker for individualized precise treatment of children with ALL.

2019 Vol. 21 (4): 359-364 [Abstract] ( 2776 ) [HTML 1KB] [PDF 1569KB] ( 792 )
365 ZENG Min-Hui, HE Xiang-Ling, YANG Ming-Hua, ZHENG Min-Cui, WAN Wu-Qing, ZOU Run-Ying, CHEN KeKe
Clinical and genetic analyses of juvenile myelomonocytic leukemia

Objective To study the clinical and genetic features of juvenile myelomonocytic leukemia (JMML) and the association between genotype and prognosis. Methods The clinical data of 15 children who were diagnosed with JMML were collected. Next-generation sequencing was used to detect common gene mutations of JMML. Results The male/female ratio was 6.5:1, and the age of onset was 19 months (range 2-67 months). Of the 15 children, 11 (73%) experienced disease onset before the age of 4 years, with abdominal distension and pyrexia as initial symptoms. All children had hepatosplenomegaly and superficial lymphadenectasis, with a number of peripheral blood mononuclear cells of > 1.0×109/L and a percentage of juvenile cells of 1%-7% in peripheral blood smear. The percentage of bone marrow blasts + juvenile cells was < 20%, and the percentage of monoblasts + promonocytes was 1%-10%. Of the 15 children, 10 (67%) had a higher level of hemoglobin F than the normal level at the corresponding age, with the highest level of 62.5%. All 15 children had the absence of Philadelphia chromosome, and one child had chromosome 7 deletion. All 15 children had a negative result of BCR/ABL fusion gene detection. PTPN11 gene mutation was found in 5 children (33%), NF1 mutation in 4 children (27%), CBL mutation in 3 children (20%), and RAS mutation in 3 children (20%). No children received regular chemotherapy, and one child underwent hematopoietic stem cell transplantation. The median follow-up time of 15 children was 18 months (range 1-48 months). Among the 15 children, 8 died (among whom 4 had PTPN11 gene mutation, 3 had NF1 mutation, and 1 had RAS mutation) and 7 survived. The children with PTPN11 mutation had the worst prognosis and the highest mortality rate, and those with CBL or NRAS mutation had a relatively good prognosis. The level of hemoglobin F was negatively correlated with survival time (rs=-7.21, P=0.002). Conclusions In children with JMML, the type of gene mutation is associated with prognosis. The children with PTPN11 mutation often have a poor prognosis, and those with CBL or NRAS mutation have a relatively good prognosis.

2019 Vol. 21 (4): 365-369 [Abstract] ( 3505 ) [HTML 1KB] [PDF 1346KB] ( 881 )
370 GONG Jun, HE Xiang-Ling, ZOU Run-Ying, CHEN Ke-Ke, YOU Ya-Lan, ZOU Hui, TIAN Xin, ZHU Cheng-Guang
Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes
This study analyzed the clinical features of 5 children with hereditary spherocytosis (HS) and the characteristics of ANK1 and SPTB gene mutations. All 5 children were confirmed with HS by peripheral blood genetic detection. Anemia, jaundice and splenomegaly were observed in all 5 children. Three children had an increase in erythrocyte osmotic fragility. All 5 children had negative results of the Coombs test, glucose 6 phosphate dehydrogenase test, sucrose hemolysis test, acidified-serum hemolysis test and thalassemia gene test. Peripheral blood smear showed an increase in spherocyte count in one child. High-throughput sequencing revealed ANK1 gene mutations in patients 1 to 3, namely c.3398(exon29)delA, c.4306C > T and c.957(exon9)_c.961(exon9)delAATCT, among which c.3398(exon29)delA had not been reported before. Patient 4 had c.318delGExon3 mutation in the SPTB gene. Patient 5 had mutations in the SPTB and SLC4A1 genes, among which c.3484delC in the SPTB gene was a spontaneous mutation; the mutation site of the SLCA4A1 gene was inherited from the father and was a non-pathogenic gene. This study suggests that anemia, jaundice and splenomegaly are major clinical manifestations of HS children. Most children with HS do not have the typical spherocytic changes. Genetic detection may help with the accurate diagnosis of HS.
2019 Vol. 21 (4): 370-374 [Abstract] ( 3661 ) [HTML 1KB] [PDF 2015KB] ( 721 )
375 CUI Dong, HU Yu-Hui, TANG Gen, SHEN Dan, CHEN Li, LIAO Jian-Xiang, CHEN Shu-Li
Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics of three children diagnosed with LPI by SLC7A7 gene analysis. All three children had the manifestations of aversion to protein-rich food after weaning, delayed development, anemia, hepatosplenomegaly, and osteoporosis, as well as an increase in orotic acid in urine. In addition, interstitial pneumonia and diffuse pulmonary interstitial lesions were observed in two children. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G > A(p.W405X) and homozygous c.625+1G > A. After a definite diagnosis was made, all three children were given a low-protein diet and oral administration of citrulline[100 mg/(kg·d)], iron protein succinylate[4 mg/(kg·d)], calcium and zinc gluconates oral solution (10 mL/day) and vitamin D (400 IU/day). In addition, patient 3 was given prednisone acetate (5 mg/day). The children had varying degrees of improvement in symptoms and signs. It is hard to distinguish LPI from urea cycle disorder due to the features of amino acid and organic acid metabolism in LPI, and SLC7A7 gene analysis is the basis for a definite diagnosis of LPI.
2019 Vol. 21 (4): 375-380 [Abstract] ( 3305 ) [HTML 1KB] [PDF 1870KB] ( 782 )
381 CHEN Wei-Wei, LIU Huan-Xin, LIU Jing, YANG Lin-Lin, LIU Min, MA Hui-Juan
Etiology and genetic diagnosis of short stature in children
Objective To study the etiology and genetic diagnosis of children with short stature. Methods A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature. Results A total of 6 causes were observed in these children, among which idiopathic short stature (ISS, 41%) and growth hormone deficiency (GHD, 29%) were the most common causes, followed by genetic diseases (14%). There were no significant differences in age at the time of diagnosis, body height, body length and weight at birth, body height of parents and insulin-like growth factor-1 levels between the genetic disease group and the ISS/GHD groups (P > 0.05). Compared with the ISS group, the genetic disease group had significantly lower deviation from the 3rd percentile for the height of children of the same age and sex (ΔP3) and height standard deviation score (P < 0.05), while there were no significant differences between the genetic disease and GHD groups (P > 0.05). The analysis of the clinical manifestations for the genetic disease group showed heterogeneity and phenotypic overlap in children with different genetic diseases. Conclusions ISS, GHD and genetic diseases are major causes of short stature in children. For children with severe short stature, genetic testing should be performed to make a definitive diagnosis after GHD has been excluded.
2019 Vol. 21 (4): 381-386 [Abstract] ( 4773 ) [HTML 1KB] [PDF 1459KB] ( 1692 )
387 LI Yuan-Yuan, LI Qin-Yuan, ZHANG Guang-Li, TIAN Xiao-Yin, CHEN Da-Peng, LUO Zheng-Xiu
Current status of antibiotic therapy for Staphylococcus aureus sepsis in children

Objective To investigate the current status of empirical antibiotic therapy for children with Staphylococcus aureus sepsis and the effect of therapeutic paradigm on prognosis based on a retrospective analysis. Methods A total of 78 children with Staphylococcus aureus sepsis who were admitted from January 2014 to August 2017 were enrolled. According to the preferred empirical antibiotics before the detection of Staphylococcus aureus by blood culture, these children were divided into a carbapenem group with 16 children, a β-lactam group with 37 children, a vancomycin group with 15 children and a vancomycin+β-lactam group with 10 children. A retrospective analysis was performed for related clinical data including general status, underlying diseases, Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score, history of use of immunosuppressant, drug resistance to methicillin and prognosis. A logistic regression analysis was used to investigate the effect of empirical antibiotic therapy on the clinical outcome and prognosis of children with Staphylococcus aureus sepsis. Results There were no significant differences among these groups in general status, underlying diseases, history of use of immunosuppressant, APACHE Ⅱ score, nosocomial infection and detection rate of methicillin-resistant Staphylococcus aureus (P > 0.05). There were significant differences in the incidence rate of septic shock and in-hospital mortality among these four groups (P < 0.05). The carbapenem group had the highest incidence rate of septic shock and in-hospital mortality (69% and 50% respectively). The multivariate logistic regression analysis showed that empirical antibiotic therapy with different antibiotics had different risks for septic shock and in-hospital death in children with Staphylococcus aureus sepsis (P < 0.05), and that an APACHE Ⅱ score of ≥ 15 was an independent risk factor for septic shock in these children (P < 0.05). The carbapenem group had significantly higher risks of septic shock and in-hospital death than the vancomycin group (P < 0.05). Conclusions Inappropriate empirical use of antibiotics may lead to a poor prognosis in children with Staphylococcus aureus sepsis. Empirical use of carbapenems is not recommended for children suspected of Staphylococcus aureus sepsis.

2019 Vol. 21 (4): 387-392 [Abstract] ( 3066 ) [HTML 1KB] [PDF 1534KB] ( 815 )
393 ZHU Xiao-Hong, TU Jin-Wei, DAI Ji-Hong
Clinical effect of fluticasone propionate, montelukast sodium and ketotifen in treatment of cough variant asthma in children
Objective To study the clinical effect of different combinations of fluticasone propionate (Flu), montelukast sodium (Mon) and ketotifen (Ket) in the treatment of children with cough variant asthma (CVA). Methods A total of 280 children with CVA who were admitted to the department of respiratory medicine from June 2015 to January 2018 were randomly divided into Flu+Mon+Ket, Flu+Mon, Flu+Ket, Mon+Ket, Flu, Mon and Ket groups, with 40 children in each group. The children in each group were given corresponding drug(s), and the course of treatment was 3 months for all groups. The condition of cough, cough symptom score, pulmonary function and adverse drug reactions were evaluated after 2 and 3 months of treatment. The children were followed up to observe recurrence. Results After treatment, cough symptom score tended to decrease in all 7 groups, with increases in percentage of forced expiratory volume in 1 second (FEV1%) and percentage of predicted peak expiratory flow (PEF%). After 2 months of treatment, the Flu+Mon+Ket group had a significantly lower cough symptom score and significantly higher FEV1% and PEF% than the other groups (P < 0.05). After 2 and 3 months of treatment, the Ket group had a significantly higher cough symptom score and significantly lower FEV1% and PEF% than the other groups (P < 0.05). After 3 months of treatment, there were no significant differences in cough symptom score, FEV1% and PEF% among the other groups (P > 0.05). There was a low incidence rate of adverse events in all 7 groups, and there was no significant difference among the 7 groups (P > 0.05). The Ket group had a significantly higher recurrence rate of cough than the other groups (P < 0.001), while there was no significant difference in this rate among the other groups (P > 0.0024). Conclusions For children with CVA, a combination of Flu, Mon and Ket has a better clinical effect than a combination of two drugs and a single drug at 2 months of treatment and is safe. After 3 months of treatment, Flu or Mon alone has a similar effect to drug combination. Ket alone has a poor clinical effect and a high recurrence rate after drug withdrawal.
2019 Vol. 21 (4): 393-398 [Abstract] ( 5151 ) [HTML 1KB] [PDF 1542KB] ( 1089 )
CASE ANALYSIS
399 WEN Yong-Xin, WANG Jia-Ping, CHEN Yan, BAO Xin-Hua
Paroxysmal crying and motor regression for more than two months in an infant
The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G > A(p.G317E) and c.962C > T(p.A321V), were found in the patient. Further study showed that c.950G > A was inherited from his father and c.962C > T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.
2019 Vol. 21 (4): 399-404 [Abstract] ( 2801 ) [HTML 1KB] [PDF 1983KB] ( 677 )
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