Objective To explore the changes in T helper lymphocytes and their subsets in children with tic disorders (TD) and their clinical signifcance.Methods Flow cytometry was used to measure the percentages of T helper lymphocytes and their subsets in the peripheral blood of children with TD and healthy children (controls).Results The percentage of T helper lymphocytes was signifcantly lower in the TD group than in the control group (P < 0.001). The abnormal rate of T helper lymphocytes in the TD group was signifcantly higher than that in the control group (68.7% vs 18.8%; P < 0.001). The percentage of T helper lymphocytes was negatively correlated with Yale Global Tic Severity Scale score (r=-0.3945, P < 0.001). As for the subsets of T helper lymphocytes, the TD group had a signifcantly higher percentage of Th1 cells and a signifcantly lower percentage of Th2 cells compared with the control group (P < 0.001).Conclusions The abnormality of T helper lymphocytes and the imbalance of their subsets may be associated with the pathogenesis of TD in children. The percentage of T helper lymphocytes can be used as an indicator for assessing the severity of TD.

Early-onset progressive encephalopathy is a lethal encephalopathy caused by NAXE gene mutations. This paper reports the clinical and genetic features of a patient with early-onset progressive encephalopathy. A 4-yearold boy admitted to the hospital had repeated walking instability and limb weakness for 2 years. The patient and his elder brother (already dead) had clinical onset at 2 years of age. Both of them showed symptoms such as strabismus, ataxia, reduced muscle tone, delayed development, and repeated respiratory failure after infection. The NAXE gene of the patient showed new compound heterozygous mutations, i.e., c.255 (exon 2) A > T from his mother and c.361 (exon 3) G>A from his father. The NAXE gene encodes an epimerase that is essential for the repair of cellular metabolites of NADHX and NADPHX. This disease is associated with a defciency of the mitochondrial NAD(P)HX repair system. Patients usually have rapid disease progression. They are also quite likely to have respiratory failure immediately after infection.

This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase defciency. The results of tandem mass spectrometry showed that C14:1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infant and his parents and revealed double heterozygous mutations in the ETFDH gene of the infant:c.992A > T and c.1450T > C. The former was inherited from his mother, and the latter was inherited from his father. c.1450T > C was shown to be the pathogenic mutation in the HGMD database. PolyPhen2, SIFT, and PROVEAN all predicted that the novel mutation c.992A > T might be pathogenic, and the mutant amino acids were highly conserved across various species. The fndings expand the mutation spectrum of the ETFDH gene, and provide molecular evidence for the etiological diagnosis of the patient with multiple acyl-CoA dehydrogenase defciency as well as for the genetic counseling and prenatal diagnosis in the family.

Objective To explore the effcacy and safety of recombinant human thrombopoietin (rhTPO) combined with high-dose dexamethasone (DXM) in the treatment of children with refractory immune thrombocytopenic purpura (ITP).Methods Fifty-eight ITP children who had failed frst-line therapy were randomly divided into two groups:DXM treatment (n=27) and rhTPO + DXM treatment (n=31). The DXM treatment group received two continuous cycles of DXM treatment; in each cycle, patients received high-dose DXM (0.6 mg/kg daily) by intravenous drip for 4 days every 28 days. The rhTPO group received subcutaneous injection of rhTPO (300 U/kg daily) for 14 days additional to DXM treatment. The overall response rate (marked response rate+slight response rate) and adverse reactions were evaluated after 3, 7, and 14 days and 1, 2, and 3 months of treatment.Results After 7 and 14 days and 1 month of treatment, the rhTPO+DXM treatment group had a signifcantly higher marked response rate and a signifcantly higher overall response rate than the DXM treatment group (P < 0.05). After 2 months of treatment, the rhTPO + DXM treatment group had a signifcantly higher overall response rate than the DXM group (P < 0.05). One patient in the DXM treatment group had liver damage during the frst week of treatment. There was no hypertension, fever, rash, allergy, or weakness in the two groups.Conclusions rhTPO combined with high-dose DXM is an effective and safe approach for treating refractory ITP.

Objective To study the effects of minimal residual disease (MRD) level on day 33 of remission induction and IKZF1 genotype on the survival of children with B-lineage acute lymphoblastic leukemia (B-ALL).Methods A total of 152 children with newly-diagnosed B-ALL who had complete remission after the frst cycle of the chemotherapy and had complete follow-up information were enrolled in this study. According to the MRD detection by flow cytometry on day 33 of remission induction, they were divided into three groups:standard-risk (SR) group (MRD <10^-4; n=60), intermediate-risk (IR) group (10^-4 ≤ MRD < 10^-2; n=55), and high-risk (HR) group (MRD ≥ 10^-2; n=37). Nested RT-PCR was used to determine the IKZF1 genotype of all children before chemotherapy. The effects of MRD level on day 33 of remission induction and IKZF1 genotype on the recurrence-free survival (RFS) of children with B-ALL were analyzed.Results There were 7 common IKZF1 subtypes in all the 152 children with B-ALL:IK1, IK2/3, IK4, IK6, IK8, IK9, and IK10. Of the 152 children, 130 had functional subtypes of IKZF1 and 22 had non-functional subtypes of IKZF1. During the follow-up period, relapse occurred in 26 (17%) children, and the recurrence rate was highest in the HR group (P < 0.05). However, there was no signifcant difference in the recurrence rate between the SR group and the IR group (P > 0.05). The cumulative recurrence rate of the children with non-functional subtypes of IKZF1 was signifcantly higher than that of those with functional types of IKZF1 (P < 0.01). The predicted 5-year RFS rates in the SR, IR, and HR groups were (94.2±2.9)%, (86.7±3.8)%, and (56.2±4.5)% respectively (P < 0.05). The 5-year RFS rate of the children with functional subtypes of IKZF1 was signifcantly higher than that of those with non-functional subtypes of IKZF1 (P < 0.01). There was no significant difference in the predicted 5-year RFS rate between the children with functional subtypes of IKZF1 and those with non-functional subtypes of IKZF1 in the SR group (P > 0.05). However, the predicted 5-year RFS rate of the children with functional subtypes of IKZF1 was signifcantly higher than that of those with nonfunctional subtypes of IKZF1 in the IR group and the HR group (P < 0.05).Conclusions B-ALL children with nonfunctional subtypes of IKZF1 have a high recurrence rate, and the recurrence rate will be even higher in B-ALL children with non-functional subtypes of IKZF1 and MRD ≥ 10^-4 on day 33 of chemotherapy.

Objective To study the expression of serum cytokines, interleukin-38 (IL-38) and interleukin-1β (IL-1β) in the acute phase of Kawasaki disease (KD) in children and the association of IL-38 and IL-1β with inflammatory response in the acute phase and the development of coronary artery lesion (CAL).Methods A total of 40 children with KD who were hospitalized in the hospital between July 2015 and June 2016 were enrolled, with 21 children in the CAL group and 19 in the non-CAL (NCAL) group. Thirty healthy children and 19 children with infection and pyrexia, who were matched for sex and age, were enrolled as healthy control group and pyrexia control group respectively. ELISA was used to measure the serum levels of IL-38 and IL-1β in the 40 children in the acute phase of KD. Spearman's rank correlation analysis was used to investigate the correlations of IL-1β and IL-38 with interleukin-6 (IL-6), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), procalcitonin (PCT), N-terminal pro-brain natriuretic peptide (NTproBNP), triglyceride (TG), and total cholesterol (TC).Results The serum level of IL-38 in the children in the acute phase of KD was signifcantly lower than that in the healthy control group (P < 0.05), but signifcantly higher than that in the pyrexia control group (P < 0.05). There was no signifcant difference in the level of IL-38 between the CAL and NCAL groups (P > 0.05). The children in the acute phase of KD had a signifcantly higher level of IL-1β than the healthy control group (P < 0.05), while there was no significant difference between this group and the pyrexia control group (P > 0.05). There was also no signifcant difference in the level of IL-1β between the CAL and NCAL groups (P > 0.05). Serum IL-1β and IL-38 levels were not correlated with serum levels of CRP, ESR, PCT, IL-6, and NT-ProBNP or blood lipids (TG and TC) (P > 0.05).Conclusions IL-38 is involved in an inflammatory response in the acute phase of KD and may exert an anti-inflammatory effect, which is opposite to the effect of IL-1β to promote inflammatory response. However, there is no signifcant correlation between these two cytokines and the development of CAL in KD.

Objective To investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms and its association with the development of Kawasaki disease and coronary artery lesion (CAL).Methods A total of 81 children with Kawasaki disease (among whom 11 had CAL) and 100 normal children who underwent physical examination (control group) were enrolled in a case-control study. Sequencing was performed to investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms.Results There were no significant differences between the Kawasaki disease and control groups in the frequencies of TT, TG, and GG genotypes and T/G alleles of +45T/G polymorphism in the adiponectin gene (P > 0.05). In the Kawasaki disease group, there were also no significant differences in the genotype and allele frequencies of the +45T/G polymorphism between the children with CAL and those without (P > 0.05). There were significant differences between the Kawasaki disease and control groups in the frequencies of GG, GT, and TT genotypes and G/T alleles of +276G/T polymorphism in the adiponectin gene (P < 0.05). GG genotype was a risk factor for the development of Kawasaki disease (OR=2.313, P=0.006). In the Kawasaki disease group, there was no significant difference in the genotype distribution of the +276G/T polymorphism between the children with CAL and those without (P > 0.05).Conclusions The adiponectin +276G/T polymorphism may be associated with the development of Kawasaki disease, but not associated with CAL. The adiponectin +45T/G polymorphism may not be associated with Kawasaki disease or CAL.

Objective To study the relationship between the expression of peripheral blood HLA-DR, CD4⁺ CD25⁺ regulatory T cells, IL-17 and IL-27 with liver damage in children with human cytomegalovirus (HCMV) infection.Methods Twenty-one HCMV children with liver damage and twenty-one HCMV children without liver damage were enrolled in this study. The expression of peripheral blood HLA-DR and CD4⁺ CD25⁺ regulatory T cells was detected by flow cytometry. Plasma levels of IL-17 and IL-27 were measured using ELISA.Results The plasma levels of IL-17 and IL-27 in children with liver damage were significantly higher than in those without liver damage, while the expression of peripheral blood CD4⁺ CD25⁺ regulatory T cells was lower than in those without liver damage (P < 0.05). Plasma IL-17 and IL-27 levels were negatively correlated with the expression of peripheral blood CD4⁺ CD25⁺ regulatory T cells (P < 0.01).Conclusions Immune imbalance mediated by CD4⁺ CD25⁺ regulatory T cells and over-expression of IL-17 and IL-27 may be involved in the pathogenesis of liver damage in children with HCMV infection.

Objective To study the clinical value of red blood cell distribution width (RDW) in the early prediction of acute kidney injury (AKI) in children with sepsis.Methods A total of 126 children with sepsis were divided into an AKI group (n=66) and a non-AKI group (n=60) according to the presence or absence of AKI. These patients were also classifed into high-RDW and low-RDW groups according to the mean RDW. The groups were compared in terms of age, male-to-female ratio, body mass index (BMI), Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score, Sequential Organ Failure Assessment (SOFA) score, serum blood urea nitrogen (BUN), creatinine (Cr), uric acid (UA), serum C-reactive protein (CRP), and routine blood test results. Independent factors associated with RDW were analyzed by multiple linear regression.Results Age, male-to-female ratio, BMI, CRP, SOFA score, and APACHE Ⅱ score did not differ signifcantly between the AKI and non-AKI groups (P > 0.05), but the AKI group had signifcantly higher BUN, Cr, UA, and RDW levels than the non-AKI group (P < 0.05). Age, male-to-female ratio, and BMI did not differ signifcantly between the high-RDW and low-RDW groups (P > 0.05), but the high-RDW group had signifcantly higher BUN, Cr, UA, CRP, SOFA score, APACHE Ⅱ score, Hb, and mean corpuscular volume (MCV) than the lowRDW group (P < 0.05). The multiple linear regression analysis showed that age, sex, APACHE Ⅱ score, Cr, Hb, and MCV were independent factors associated with RDW.Conclusions RDW has a certain clinical value in the early prediction of AKI in children with sepsis.

Objective To study the clinical effect of pidotimod oral liquid as adjuvant therapy for infectious mononucleosis and its effect on T lymphocyte subsets.Methods A total of 76 children with infectious mononucleosis, who were admitted to the hospital between July 2016 and June 2017, were enrolled and randomly divided into two groups:conventional treatment and pidotimod treatment (n=38 each). The children in the conventional treatment group were given antiviral therapy with ganciclovir for injection and symptomatic treatment. Those in the pidotimod treatment group were given pidotimod oral liquid in addition to the treatment in the conventional treatment group. The course of treatment was two weeks for both groups. The two groups were compared in terms of the recovery of clinical indices and the changes in peripheral blood T lymphocyte subsets.Results Compared with the conventional treatment group, the pidotimod treatment group had signifcantly shorter fever clearance time, time to the disappearance of isthmopyra, time to the relief of lymph node enlargement, time to the relief of hepatosplenomegaly, and length of hospital stay (P < 0.05). After treatment, the pidotimod treatment group had signifcant reductions in the percentages of CD3⁺ and CD8⁺ T cells and had signifcantly lower percentages of CD3⁺ and CD8⁺ T cells than the conventional treatment group (P < 0.001). The pidotimod treatment group had signifcant increases in the percentage of CD4⁺ T cells and CD4⁺/CD8⁺ ratio after treatment, which was signifcantly higher than those in the conventional treatment group (P < 0.001). The conventional treatment group had no signifcant changes in T lymphocyte subsets after treatment (P > 0.05).Conclusions Pidotimod oral liquid has a good clinical effect as the adjuvant therapy for infectious mononucleosis and can improve cellular immune function, so it holds promise for clinical application.

Objective To study the clinical features and prognosis of gastrointestinal injury caused by foreign bodies in the upper gastrointestinal tract in children.Methods A retrospective analysis was performed for the clinical data of 217 children who were diagnosed with foreign bodies in the upper gastrointestinal tract complicated by gastrointestinal injury by gastroscopy from January 2011 to December 2016, including clinical features, gastroscopic findings, complications, and prognosis.Results Among the 217 children, 114 (52.5%) were aged 1-3 years. The most common foreign body was coin (99/217, 45.6%), followed by hard/sharp-edged food (45/217, 20.7%) and metal (35/217, 16.1%). The most common gastrointestinal mucosal injury was ulceration (43.8%), followed by erosion (33.2%). Compared with other foreign bodies, button cells were signifcantly more likely to cause esophageal perforation (P < 0.01). The esophagus was the most commonly injured organ (207/217, 95.4%). Of all the 217 children, 24 (11.1%) experienced infection. The children with perforation caused by foreign bodies had a significantly higher incidence rate of infection than those with ulceration caused by foreign bodies (P=0.003). Of all the 217 children, 204 (94.0%) underwent successful endoscopic removal of foreign bodies. Among these children, 98 were hospitalized due to severe mucosal injury and were given anti-infective therapy, antacids, and supportive care including enteral nutrition through a nasogastric tube and/or parenteral nutrition. Of all the children, 10 left the hospital and were lost to follow-up, and all the other children were improved and discharged.Conclusions Most cases of foreign bodies in the upper gastrointestinal tract occur at 1-3 years of age. Coin, hard/sharp-edged food, and metal are the most common foreign bodies. Button cells are more likely to cause esophageal perforation. The incidence rate of secondary infection increases with the increasing severity of gastrointestinal mucosal injury. Children undergoing endoscopic removal of foreign bodies and enteral nutrition through a nasogastric tube tend to have a good prognosis.

Objective To investigate the growth and development of very low birth weight (VLBW)/extremely low birth weight (ELBW) preterm infants within the corrected age of 6 months and the effect of different feeding patterns on growth and development.Methods A total of 109 VLBW/ELBW preterm infants who were discharged from January 2016 to April 2017 and who had completed regular follow-up were enrolled, and their growth and development within the corrected age of 6 months were monitored. The Z-score method was used to evaluate physical indices and analyze the effect of different feeding patterns (breastfeeding group:breast milk + human milk fortifer; mixed feeding group:breast milk+preterm formula milk; artifcial feeding:preterm formula milk) on growth and development.Results The peaks of weight-for-age Z-score, height-for-age Z-score, weight-for-height Z-score, and BMI-for-age Z-score occurred within the corrected age of 3 months, and the peak of head circumference-for-age Z-score occurred at the corrected age of 5 months. Growth deviation of the infants often occurred within the corrected age of 1-3 months. At the corrected age of 3 months, the breastfeeding group had signifcantly better body weight, height and head circumference growth than the mixed feeding group and/or the artifcial feeding group (P < 0.05). At the corrected age of 6 months, the breastfeeding group had significantly better head circumference and body length growth than the mixed feeding group and/or the artificial feeding group (P < 0.05).Conclusions Growth deviation of VLBW/ELBW preterm infants often occurs within the corrected age of 1-3 months, suggesting that early individualized follow-up and nutritional guidance should be strengthened to reduce growth deviation. Maternal breastfeeding with the addition of human milk fortifer is the best feeding pattern for VLBW/ELBW preterm infants.

Objective To study the protective effect of lipoxin A4 (LXA4) against sepsis induced by lipopolysaccharide (LPS) in rats with obesity and its effect on the expression of Toll-like receptor 4 (TLR4) and TNF receptor-associated factor 6 (TRAF6) in the liver.Methods A total of 60 male Sprague-Dawley rats aged three weeks were randomly divided into a normal group and an obesity group, with 30 rats in each group. A rat model of obesity was established by high-fat diet. Each of the two groups was further randomly divided into control group, sepsis group, and LXA4 group, and 8 rats were selected from each group. The rats in the control, sepsis, and LXA4 groups were treated with intraperitoneal injection of normal saline, LPS, and LXA4+LPS respectively. Twelve hours later, blood samples were collected from the heart and liver tissue samples were also collected. ELISA was used to measure the serum levels of interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α). Western blot was used to measure the protein expression of TLR4 and TRAF6 in liver tissue. Quantitative real-time PCR was used to measure the mRNA expression of TLR4 and TRAF6.Results After being fed with high-fat diet for 6 weeks, the obesity group had signifcantly higher average weight and Lee's index than the normal group (P < 0.05). Compared with the normal group, the obesity group had signifcant increases in the serum levels of IL-6 and TNF-α (P < 0.05). In the normal group or the obesity group, the sepsis subgroup had signifcant increases in the serum levels of IL-6 and TNF-α compared with the control subgroup (P < 0.05), while the LXA4 subgroup had signifcant reductions in the two indices compared with the sepsis subgroup (P < 0.05). Compared with the normal group, the obesity group had signifcant increases in the protein and mRNA expression of TLR4 and TRAF6 (P < 0.05). In the normal group or the obesity group, the sepsis subgroup had signifcant increases in the protein and mRNA expression of TLR4 and TRAF6 compared with the control subgroup (P < 0.05). Compared with the sepsis subgroup, the LXA4 subgroup had signifcant reductions in the protein and mRNA expression of TLR4 and TRAF6 (P < 0.05).Conclusions LXA4 can reduce the serum levels of IL-6 and TNF-α and alleviate inflammatory response. LXA4 can inhibit the expression of TLR4 and TRAF6 in the liver of septic rats, possibly by inhibiting the TLR4 signaling pathway.