No abstract available
Objective To explore the curative effect of progressively integrated sandplay therapy on core symptoms and sleep management in preschool children with mild-to-moderate autism spectrum disorder (ASD). Methods A total of 50 mild-to-moderate ASD preschool children were randomly divided into an experimental group (n=25) and a control group (n=25). The control group was treated with structured teaching and auditory integration training (AIT). Based on these, the experimental group was treated with progressively integrated sandplay therapy. The Autism Behavior Checklist (ABC), Children Autism Rating Scale (CARS), Social Responsiveness Scale (SRS), Children's Sleep Habit Questionnaire (CSHQ) and emotion recognition tools were used to evaluate the overall curative effect before treatment and 3 months after treatment. Results The experimental group had significantly lower scores of feeling, social interaction, somatic motor, language factor, total ABC and total CARS than the control group (P < 0.05). The experimental group had also significantly lower scores of social cognition, social communication, social motivation, autistic behavior factor and total SRS than the control group (P < 0.05). The experimental group had a significantly higher accurate rate of recognition of the upper facial expression and lower facial expression than the control group (P < 0.05). The experimental group had significantly lower scores of bedtime resistance, sleep onset, sleep duration, night waking, daytime sleepiness, and total CSHQ than the control group (P < 0.05). The experimental group had significantly reduced themes of wounding and significantly increased themes of healing after sandplay therapy (P < 0.05). Conclusions Progressively integrated sandplay therapy can effectively improve the core symptoms and sleep quality of preschool children with mild-to-moderate ASD, which can be used as an early rehabilitation measure.
Objective To investigate the prevalence and type of abnormal brain structure in preschool and school-aged children with autism spectrum disorder (ASD). Methods A total of 74 252 preschool and school-aged children aged 3-12 years in Shanghai were enrolled as subjects. A questionnaire survey was performed to collect basic information, and their parents and teachers completed the Social Communication Questionnaire (SCQ) based on the children's conditions. ASD was diagnosed by specialist physicians according to the DSM-5 criteria. Brain magnetic resonance imaging (MRI) was performed according to their parents' desires. Results The overall prevalence rate of ASD was 2.59‰ (192/74 252) in the preschool and school-aged children. Brain MRI data were collected from 73 children with ASD and 185 healthy children. Among the 73 children with ASD, 40 (55%) had abnormal brain structure, and the most common types were unilateral or bilateral ventriculomegaly in 32 children (80%) and unilateral or bilateral deep frontotemporal sulci in 12 children (30%). Children with ASD showed lower white matter signal in bilateral ventricular and unilateral or bilateral deep frontotemporal sulci, compared to their normal peers (P < 0.05). Conclusions There is a high prevalence rate of abnormal brain structure in preschool and school-aged children with ASD, with major types of unilateral or bilateral ventriculomegaly and unilateral or bilateral deep frontotemporal sulci. It is speculated that abnormal brain structure might be associated with the pathogenesis of ASD, and further studies are needed to clarify the association between abnormal brain structure and symptoms in children with ASD.
Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and muscle cramps. This article reports the clinical features and genotype of one toddler with HANAC syndrome caused by COL4A1 gene mutation. The boy, aged 1 year and 8 months, had an insidious onset, with the clinical manifestations of pyrexia and convulsion, white matter lesions in the periventricular region and the centrum semiovale on both sides, softening lesions beside the left basal ganglia, retinal arteriosclerosis, microscopic hematuria and muscle cramps. Whole exome sequencing revealed a pathogenic de novo heterozygous mutation in the COL4A1 gene, (NM_001845) c.4150+1(IVS46)G > T, and therefore, the boy was diagnosed with HANAC syndrome. COL4A1 gene mutation detection should be performed for children with unexplained white matter lesion, stroke, hematuria, polycystic kidney, cataract and retinal artery tortuosity or families with related history.
Objective To investigate the risk factors for recurrence of medulloblastoma (MB) within 2 years and their influence on progression-free survival (PFS). Methods A retrospective analysis was performed for the clinical data of 123 children with MB who were admitted from January to December, 2017. According to the presence or absence of recurrence, they were divided into recurrence group with 30 children and non-recurrence group with 93 children. The risk factors for recurrence within 2 years were analyzed, and PFS was compared between the children with different risk factors. Results Large-cell/anaplastic type and M stage were risk factors for MB recurrence within 2 years. The risk of recurrence in the children with M+ MB was 3.525 times that in those with M0 MB, and the risk of recurrence in the children with large-cell/anaplastic MB was 3.358 times that in those with classic MB (P < 0.05). The survival analysis showed that the median PFS time was 20 months in the children with M+ MB, and the 20-month PFS rate was 50% ±11% in the children with M+ MB and 81% ±5% in those with M0 MB (P < 0.05). The 20-month PFS rate was 80% ±5% in the children with classic MB, 65% ±10% in those with desmoplastic/nodular MB, 86% ±13% in those with MB with extensible nodularity, and 36% ±20% in those with large-cell/anaplastic MB (P < 0.05). Conclusions Recurrence is an important influencing factor for the prognosis of MB, and M+ stage and large-cell/anaplastic MB are risk factors for recurrence. Children with such risk factors tend to have a low PFS rate.
Objective To study the association of platelet level at diagnosis with prognosis in children with acute lymphoblastic leukemia (ALL). Methods A total of 892 children with ALL who underwent chemotherapy with the CCLG-ALL 2008 regimen were enrolled. According to the platelet count at diagnosis, these children were divided into normal platelet count group (platelet count ≥ 100×109/L; n=263) and thrombocytopenia group (platelet count < 100×109/L; n=629). The thrombocytopenia group was further divided into (50- < 100)×109/L (n=243), (20- < 50)×109/L (n=263), and < 20×109/L (n=123) subgroups. The association of clinical features (sex, age, immunophenotype, and molecular biology) with event-free survival (EFS) and overall survival (OS) was analyzed. Results Compared with the thrombocytopenia group, the normal platelet count group had significantly lower positive rate of MLL gene rearrangement and recurrence rate (P < 0.05), as well as a significantly higher 10-year EFS rate (P < 0.05). There was no significant difference in 10-year OS between the two groups (P > 0.05). The normal platelet count group still had a significantly higher 10-year EFS rate than the thrombocytopenia group after the children with MLL gene rearrangement were excluded (P < 0.05), and there was still no significant difference in 10-year OS between the two groups (P > 0.05). The < 20×109/L subgroup had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50- < 100)×109/L subgroup, and the (20- < 50)×109/L subgroup (P < 0.05). After the children with MLL gene rearrangement were excluded, the < 20×109/L subgroup still had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50- < 100)×109/L subgroup, and the (20- < 50)×109/L subgroup (P < 0.05). Conclusions ALL children with MLL gene rearrangement often have the clinical manifestation of thrombocytopenia. Platelet level at diagnosis is associated with the prognosis of ALL children. The children with normal platelet count have a low recurrence rate and good prognosis, and those with a platelet count of < 20×109/L have the worst prognosis.
Objective To study the clinical features, treatment, and prognosis of pure red cell aplasia (PRCA) in children. Methods A retrospective analysis was performed for the clinical data of 16 children with PRCA. The outcome and prognosis of patients treated with prednisone combined with Huaiqihuang granules versus prednisone alone were evaluated. Results All the 16 children complained of symptoms of anemia including pale or sallow complexion. Of 12 children undergoing pathogen test, 7 (58%) were found to have pathogen infection, among which human cytomegalovirus was the most common. Lymphocyte subsets were measured for 7 children, among whom 5 (71%) had lymphocyte immune disorder. Six children were found to have abnormalities in immunoglobulin and complement. The 8 children treated with prednisone combined with Huaiqihuang granules had a median follow-up time of 21.5 months, among whom 1 was almost cured, 1 was relieved, and 6 were obviously improved; the median onset time of treatment was 1 month, and 2 children had disease recurrence in the course of drug reduction or withdrawal. The 8 children in the prednisone alone treatment group had a median follow-up time of 34 months, among whom 4 were almost cured, and 4 were obviously improved; the median onset time of treatment was 2.5 months, and 4 children had recurrence during drug reduction or withdrawal. Conclusions Children with PRCA usually complain of anemia-related symptoms. Laboratory tests show pathogen infection in some children with PRCA, and most of children have immune disorders. Glucocorticoids have a good therapeutic effect, but some children relapse in the course of drug reduction or withdrawal. Combined treatment with prednisone and Huaiqihuang granules may have a faster onset of action and less possibility of recurrence.
Objective To explore the effect of feeding initiation with different formulas on the growth, development, and feeding tolerance in very low birth weight infants. Methods A total of 86 preterm infants with a gestational age of < 34 weeks and a birth weight of < 1 500 g were divided into three groups according to their feeding initiation formulas:standard preterm formula feeding group (SPF group; n=31), extensively hydrolyzed protein formula feeding group (eHF group; n=27), and breastfeeding group (control group; n=28). Comparisons were made between the groups in terms of growth indices, feeding condition, blood biochemistry, length of hospital stay, and incidence rates of feeding intolerance, sepsis, necrotizing enterocolitis (NEC), and extrauterine growth retardation (EUGR). Results There were no significant differences among the above three groups in body weight, head circumference, and rate of increase in body length measured during hospitalization, as well as length of hospital stay and EUGR incidence rate at discharge (P > 0.05). The SPF and eHF groups had a significantly shorter transition time from meconium to yellow stool than the control group (P < 0.01). The SPF group had a significantly shorter time to standard enteral feeding than the eHF and control groups (P < 0.01), with no significant difference observed between the latter two groups. The SPF group had a significantly lower serum prealbumin level than the eHF and control groups (P < 0.01). The SPF and eHF groups had a significantly higher hemoglobin level at discharge than the control group (P < 0.01). The percentage of eosinophils at discharge was significantly lower in the eHF group than in the SPF group (P < 0.01). No significant differences were found among the three groups regarding the incidence rates of feeding intolerance, sepsis, and NEC (P > 0.05). Conclusions Both eHF and SPF can be used for feeding initiation for very low birth weight preterm infants with a gestational age of < 34 weeks without increasing the incidence rate of EUGR.
Objective To investigate the influence of pre-pregnancy parental body mass index (BMI), maternal weight gain during pregnancy, and their interaction on neonatal birth weight. Methods A total of 1 127 pregnant women who underwent regular prenatal examinations and full-term singleton delivery in the First Hospital of Xi'an Jiaotong University from January 2017 to October 2018 were enrolled. The data on their pre-pregnancy BMI, maternal weight gain during pregnancy, pre-pregnancy BMI of the husband, and neonatal birth weight were collected. The interaction between pre-pregnancy parental BMI and maternal weight gain during pregnancy was analyzed, and their correlation with neonatal birth weight was analyzed. Results Among the 1 127 full-term neonates, the detection rates of low birth weight neonates and macrosomia were 2.22% (25/1 127) and 3.82% (43/1 127) respectively. There were significant differences in pre-pregnancy parental BMI and maternal weight gain during pregnancy among the low birth weight, normal birth weight, and macrosomia groups (P < 0.05). Neonatal birth weight was positively correlated with pre-pregnancy parental BMI and maternal weight gain during pregnancy (r=0.097-0.322, P < 0.05). Low maternal weight before pregnancy increased the risk of low birth weight (RR=4.17, 95%CI:1.86-9.38), and maternal overweight/obesity before pregnancy (RR=3.59, 95%CI:1.93-6.67) and excessive weight gain during pregnancy (RR=3.21, 95%CI:1.39-7.37) increased the risk of macrosomia. No interaction between pre-pregnancy maternal BMI and maternal weight gain during pregnancy was observed. Conclusions Pre-pregnancy parental BMI and maternal weight gain during pregnancy are related to neonatal birth weight, and there is no interaction between pre-pregnancy maternal BMI and maternal weight gain during pregnancy.
Objective To study the association of interleukin-10 (IL-10) -1082A/G, -819C/T, and -592C/A polymorphisms with IL-10 level and the severity of enterovirus 71 (EV71) infection in children. Methods A total of 137 children with hand-foot-mouth disease due to EV71 infection were enrolled as EV71 infection group, which was further divided into mild group with 91 children and severe group with 46 children, and 122 healthy children who underwent physical examination were enrolled as healthy control group. Related clinical data were collected. ELISA was used to measure the serum level of IL-10, and polymerase chain reaction-restriction fragment length polymorphism was used to analyze IL-10 -1082A/G, -819C/T and -592C/A polymorphisms. Results Compared with the healthy control group, the children with EV71 infection had significantly higher frequency of -1082 AA genotype and A allele (P < 0.05). Among the children with EV71 infection, the severe group had significantly higher frequency of -1082 AA genotype and A allele than the mild group (P < 0.05), while there was no significant difference in the distribution of IL-10 -819C/T and IL-10 -592C/A polymorphisthan the mild group and the healthy control group. IL-10 -1082 AA genotype, -819 TT genotype, and -592 AA genotype were asms between the two groups (P > 0.05). The severe group had a significantly higher serum level of IL-10 sociated with the low expression of IL-10 (P < 0.05). As for haplotype, the EV71 infection group had a significantly lower frequency of GCC haplotype than the healthy control group (P < 0.05). In the severe group, the children with ATA haplotype had a significantly lower IL-10 level than those with other haplotypes, and the children with GCC haplotype had a significantly higher IL-10 level than those with other haplotypes (P < 0.05). There was no significant difference in IL-10 level between children with different haplotypes in the mild group and the healthy control group (P > 0.05). Conclusions IL-10 gene polymorphisms are associated with IL-10 expression and the severity of EV71 infection in children.
Objective To study the clinical effect of carvedilol in the treatment of children with severe hand-foot-mouth disease (HFMD) caused by enterovirus 71 (EV71) infection. Methods A retrospective analysis was performed for the clinical data of 86 children with severe HFMD caused by EV71 infection who were admitted to the hospital from April 2016 to August 2017. According to whether carvedilol was used, the children were divided into conventional treatment group with 51 children and carvedilol treatment group with 35 children. A total of 56 healthy children who underwent physical examination at the outpatient service during the same period were enrolled as the control group. The two treatment groups were compared in terms of clinical features and levels of catecholamines (norepinephrine, adrenaline and dopamine), and the levels of catecholamines were compared between these two treatment groups and the control group. Results Before treatment, the conventional treatment group and the carvedilol treatment group had significantly higher levels of norepinephrine and adrenaline than the control group (P < 0.05). After treatment, both the conventional treatment group and the carvedilol treatment group had significant reductions in norepinephrine, adrenaline, blood glucose, systolic pressure, diastolic pressure, heart rate, body temperature and leukocyte count (P < 0.05). Compared with the conventional treatment group, the carvedilol treatment group had significantly lower dopamine level, blood glucose, heart rate and respiratory rate after treatment (P < 0.05). Conclusions Changes in norepinephrine and adrenaline might be involved in the pathogenesis of severe HFMD caused by EV71 infection. Carvedilol, in addition to the conventional treatment, can improve respiration, heart rate and blood glucose in children with severe HFMD caused by EV71 infection.
Objective To study the clinical effect and safety of clopidogrel combined with aspirin in antithrombotic therapy for children with Kawasaki disease (KD) complicated by coronary artery aneurysm (CAA). Methods A total of 77 KD children who were diagnosed with multiple small/medium-sized CAAs by echocardiography between January 2013 and June 2018 were enrolled. They were randomly divided into observation group with 38 children (treated with clopidogrel and aspirin) and control group with 39 children (treated with low-molecular-weight heparin and aspirin). All children were followed up regularly, and the first 3 months of the course of the disease was the observation period. The children were observed in terms of the change of the coronary artery and the incidence of complications. Results At month 3 of follow-up, among the children in the observation group, 6 had normal coronary artery, 11 had coronary artery retraction, 19 had stable coronary artery, and 2 progressed to giant coronary aneurysm; among the children in the control group, 7 had normal coronary artery, 12 had coronary artery retraction, 19 had stable coronary artery, and 1 progressed to giant coronary aneurysm; there was no significant difference in the change of the coronary artery between the two groups (P > 0.05). There were 2 cases of epistaxis and 6 cases of skin ecchymosis in the observation group, and 1 case of epistaxis and 7 cases of petechiae and ecchymosis at the injection site in the control group, and no other serious bleeding events were observed in either group. Conclusions Clopidogrel combined with low-dose aspirin is safe and effective in antithrombotic therapy for children with KD complicated by CAA.
Objective To explore the predictive significance of exhaled breath temperature (EBT) for airway inflammation changes in children with asthma. Methods A total of 60 children with asthma who met the inclusion criteria at the first visit were chosen as the asthma group, and 60 healthy children were selected as the control group. The EBT level was measured by the latest third-generation product (X-halo). The Childhood Asthma Control Test (C-ACT) score was recorded. EBT level and C-ACT score were compared between the asthma and control groups. At the subsequent visit one month later, the children were divided into well-controlled, partially-controlled, and uncontrolled groups according to their C-ACT scores. The EBT level and the FeNO level of the three groups were measured. EBT level and C-ACT score were compared among the three groups. The correlation between EBT and FeNO was analyzed. The data of initial diagnosis were reviewed, the EBT level and C-ACT score at the first visit were compared among the three groups, and the differences in EBT level and C-ACT score among the three groups at the second and first visits were evaluated. Results At the first visit, the asthma group had a significantly higher EBT and a significantly lower C-ACT score compared with the control group (P < 0.05). At the time of the subsequent visit, there was a significant difference in EBT level between the three groups, i.e., uncontrolled group > partially-controlled group > well-controlled group (P < 0.05), and there was also a significant difference in C-ACT score between the three groups, i.e., well-controlled group > partially-controlled group > uncontrolled group (P < 0.05). There were no significant differences in EBT level and C-ACT score at the first visit between the three groups. From the first visit to the subsequent visit, EBT level was significantly decreased in the well-controlled group (P < 0.05), but significantly increased in both partially-controlled group uncontrolled groups (P < 0.05); C-ACT score was significantly increased in the well-controlled and partially-controlled groups (P < 0.05), but significantly decreased in the uncontrolled group (P < 0.05). EBT and FeNO levels at the subsequent visit were positively correlated with each other in the uncontrolled group (P < 0.05). Conclusions EBT has predictive significance for the changes in airway inflammation in children with asthma.
Objective To systematically evaluate the clinical effect of azithromycin (AZM) adjuvant therapy in children with bronchiolitis. Methods Related databases were searched for randomized controlled trials (RCTs) on AZM adjuvant therapy in children with bronchiolitis published up to February 17, 2019. RevMan 5.3 was used to perform the Meta analysis. Results A total of 14 RCTs were included, with 667 children in the intervention group and 651 in the control group. The pooled effect size showed that in the children with bronchiolitis, AZM adjuvant therapy did not shorten the length of hospital stay (MD=-0.29, 95%CI:-0.62 to 0.04, P=0.08) or oxygen supply time (MD=-0.33, 95%CI:-0.73 to 0.07, P=0.10), while it significantly shortened the time to the relief of wheezing (MD=-1.00, 95%CI:-1.72 to -0.28, P=0.007) and cough (MD=-0.48, 95%CI:-0.67 to -0.29, P < 0.00001). The analysis of bacterial colonization revealed that AZM therapy significantly reduced the detection rates of Streptococcus pneumoniae (OR=0.24, 95%CI:0.11-0.54, P=0.0006), Haemophilus (OR=0.28, 95%CI:0.14-0.55, P=0.0002), and Moraxella catarrhalis (OR=0.21, 95%CI:0.11-0.40, P < 0.00001) in the nasopharyngeal region. Conclusions AZM adjuvant therapy can reduce the time to the relief of wheezing and cough in children with bronchiolitis, but it has no marked effect on the length of hospital stay and oxygen supply time.
A boy, aged 5 years, was admitted due to chest pain for 4 months, right lower limb weakness for 2 months, and weakness of both lower limbs for 10 days. There were no symptoms of defecation/urination disorders or disturbance of consciousness, and the boy had upper motor neuron paralysis in both lower limbs, without cranial nerve involvement or sensory disorder. Spine magnetic resonance imaging revealed tumor in the spinal canal between cervical vertebra 6 and thoracic vertebra 2, which put pressure on the spinal cord. He was transferred to the department of neurosurgery for surgical treatment and fully recovered after tumor resection, and no recurrence was observed after 6 years of follow-up. The pathological diagnosis was clear cell meningioma (WHO grade Ⅱ). For children with chest pain and dyskinesia, spinal meningioma should be considered.
Objective To construct a W203X-mutant mouse model of cblC type methylmalonic acidemia based on the CRISPR/Cas9 technology. Methods At first, BLAST was used to compare the conservative nature of the cblC gene and protein sequences in humans and mice, and then, the CRISPR/Cas9 technology was used for microinjection of mouse fertilized eggs to obtain heterozygous F1 mice. Hybridization was performed for these mice to obtain homozygous W203X-mutant mice. The blood level of the metabolite propionyl carnitine (C3) was measured for homozygous mutant mice, heterozygous littermates, and wild-type mice. Results The gene and protein sequences of MMACHC, the pathogenic gene for cblC type methylmalonic acidemia, were highly conserved in humans and mice. The homozygous W203X-mutant mice were successfully obtained by the CRISPR/Cas9 technology, and there was a significant increase in C3 in these mice at 24 hours after birth (P < 0.001). Conclusions A W203X-mutant mouse model of cblC type methylmalonic acidemia is successfully constructed by the CRISPR/Cas9 technology.
Objective To study the effects of different melatonin treatment regimens on the proliferation of neural stem cells (NSCs) and long-term histopathology in neonatal rats with hypoxic-ischemic brain damage (HIBD), and to identify better melatonin treatment regimens. Methods A total of 96 Sprague-Dawley rats aged 7 days were randomly divided into normal control, HIBD, single-dose immediate melatonin treatment (SDIT), and 7-day continuous melatonin treatment (7DCT) groups, with 24 rats in each group. The rat model of HIBD was prepared by isolation and electrocoagulation of the right common carotid artery as well as hypoxic treatment in a hypoxic chamber (oxygen concentration 8.00% ±0.01%) for 2 hours. On day 7 after modeling, proliferating cell nuclear antigen/Nestin double-labeling immunofluorescence was used to measure the proliferation of endogenous NSCs in the subventricular zone (SVZ) and the hippocampal dentate gyrus (DG) region in 8 rats in each group, and Western blot was used to measure the protein expression of Nestin in brain. On day 28 after modeling, hematoxylin-eosin (HE) staining and Nissl staining were used to observe the changes in the histopathology and the number of pyramidal cells in the hippocampal CA1 region in 8 rats in each group. Results Immunofluorescent staining showed that compared with the HIBD group, the SDIT and 7DCT groups had a significant increase in the number of PCNA+Nestin+DAPI+ cells, and the 7DCT group had a significantly higher number than the SDIT group (P < 0.01). Western blot showed that the SDIT and 7DCT groups had significantly higher protein expression of Nestin than the HIBD group, and the 7DCT group had significantly higher expression than the SDIT group (P < 0.05). HE staining showed that the SDIT and 7DCT groups had alleviated cell injury, and Nissl staining showed that compared with the HIBD group, the SDIT and 7DCT groups had a significant increase in the number of pyramidal cells, and the 7DCT group had a significantly higher number than the SDIT group (P < 0.01). Conclusions Both single-dose immediate melatonin treatment and 7-day continuous melatonin treatment can promote the proliferation of endogenous NSCs and alleviate long-term histological injury in the brain of neonatal rats with HIBD. A 7-day continuous melatonin treatment has a better effect than single-dose immediate melatonin treatment.
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies with predominantly proximal muscular weakness, and some genes associated with this disease have been identified at present. LGMD type 2Q (LGMD2Q) is a subtype of LGMD and is associated with PLEC gene mutation. Major phenotypes of PLEC gene mutation include epidermolysis bullosa with late-onset muscular dystrophy and epidermolysis bullosa with other lesions. LGMD2Q without skin lesions is rarely reported. This article reviews the pathogenic gene PLEC and clinical manifestations of LGMD2Q, so as to deepen the understanding of the pathogenic gene and phenotype of LGMD2Q.
