Analysis of clinical features and genetic variants in an infant with Bloom syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.@*METHODS@#Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.@*CONCLUSION@#Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.

Correlation of serum vitamin A and vitamin D with the severity and clinical types of tic disorder / 中华行为医学与脑科学杂志

Objective:To explore the levels of vitamin A(VA) and vitamin D(VD) in blood of children with tic disorder (Tic disorder, TD) and their associations with tic symptoms severity and clinical types, so as to provide evidence for better prevention and treatment of TD.Methods:A total of 245 children with TD from September 2018 to April 2019 in the department of child Health care, affiliated hospital of qingdao university were enrolled as the case group and 63 healthy children who underwent routine physical examination at the same time as the control group. The levels of VA and VD were measured and their relationship with the severity of tic symptoms and clinical types were analyzed.Results:(1)The VD level of the case group was significantly lower than that of the control group ((23.72±8.87) μg/L , (26.61±7.59) μg/L, t=-2.24, P=0.03), and the proportion of insufficiency or even lack (37.31%, 75/201) was higher than the control group (15.79%, 9/57) (χ 2=9.37, P=0.002). (2)According to the Yale global tic severity scale(YGTSS), the children in the case group were divided into mild TD group, and moderate-to-severe TD group. ①There were significant differences in serum VA and VD levels in mild TD group, moderate-to-severe TD group and the control group ( F=29.79, P<0.01; F=10.90, P<0.01). Among them, the content of VA and VD in moderate-to-severe TD group were lower than those in mild TD group and control group (VA: (0.29±0.06)mg/L, (0.35±0.06)mg/L, (0.34±0.06)mg/L; VD: (21.01±8.30)μg/L, (25.84±8.76)μg/L, (26.61±7.59)μg/L). ②VA and VD levels of children with TD were negatively correlated with the severity of symptoms ( r=-0.325; P<0.01; r=-0.228; P=0.001). (3)According to DSM-V classification criteria, TD children were divided into PTD group, CTD group and TS group. ①There was no significant difference in serum VA level among different clinical types of TD children ( F=0.87, P=0.46). ②The levels of serum VD were different among the four groups ( F=4.13, P=0.007). Among them, the VD level in TS group was the lowest, and its content was significantly lower than that in control group ((21.83±7.60)μg/L, (26.61±7.59)μg/L, P<0.05)). The prevalence of insufficient or even lack of serum VD in children with different subtypes of TD was higher than that in the control group (χ 2=10.88, P=0.01). Conclusion:Vitamin D deficiency exists in children with TD. The level of vitamin A and vitamin D in serum of children with TD is related with the severity of tic symptoms.The VD level is related with clinical type of TD.

Effect of 1, 25-dihydroxy vitamin D3 on food allergy in mice / 中华实用儿科临床杂志

Objective@#To investigate the effects of 1, 25-dihydroxy vitamin D3[1, 25(OH)2D3] on food allergy(FA) in mice and its mechanism.@*Methods@#A total of 40 BALB/c mice were randomly divided into 5 groups, 8 in each group, including control group (group C) and FA model group (FA group), according to the dose of 1, 25(OH)2D3 intervention, the mice of the FA group were divided into FA0 group (0), FAl group [10 μg/(kg·d)], FAm group [50 μg/(kg·d)] and FAh group[100 μg/(kg·d)]. Egg albumin was used to establish a food allergy model, with different doses of 1, 25(OH)2D3 for gastric intervention, and the control group was replaced by 9 g/L saline.The serum levels of ovalbumin-immunoglobulin E(OVA-IgE), interleukin(IL)-9 and IL-17 of mice were measured by using enzyme linked immunosorbent assay after the last excitation, and HE staining and histopathological examination were carried out in the small intestine of mice.@*Results@#Compared with group C, FA0 group and FAh group small intestinal mucosa in mice had different degrees of damage, partial peeling off, structure disorder, villi epithelial cell focal falls peeling off, necrosis, lamina propria edema, congestion, a large number of inflammatory cells infiltration, low but the FAl group and FAm group had light mucosa damage, intestinal epithelial basically intact, with integrity, no congestion, edema, and inflammatory cells infiltration to a lesser degree.The mean concentrations of serum IgE, IL-9 and IL-17 in different groups were statistically significant (F=40.770, 9.530, 5.624, all P<0.05). Compared with the FA0 group [(41.87±3.19) ng/L], the OVA-IgE of the FAl group [(22.71±4.77) ng/L] and the FAm group [(16.34±2.81) ng/L] were significantly reduced (t=5.533, 11.835, all P<0.01), but there was no significant difference between the FAh group [(36.29±6.52) ng/L] (t=1.673, P>0.05). Compared with the FA0 group [(161.77±50.44) ng/L], the IL-9 levels of the FAl group [(94.29±18.79) ng/L] and the FAm group[(84.45±30.88) ng/L] were significantly lower (t=3.267, 3.366, all P<0.01), while that of the FAh group [(36.29±6.52) ng/L] was not significantly lower (t=0.777, P>0.05). Compared with FA0 group [(81.55±29.37) ng/L], IL-17 levels of FAh group [(133.58±47.05) ng/L] was significantly increased (t=2.653, P<0.05), while IL-17 level of FAl group [(79.41±25.15) ng/L] and FAm group [(58.81±26.00) ng/L] were lower than that of FA0 group [(81.55±29.37) ng/L], but the difference was not statistically significant (t=0.154, 1.640, all P>0.05).@*Conclusions@#Low, medium dose of 1, 25(OH)2D3 supplements can inhibit mice food allergies, but high doses of 1, 25(OH)2D3 improve performance in mice food allergies, and 1, 25(OH)2D3′s influence on the secretion of IL-9 is one that influences mechanism of food allergy.

Correlation among fractional exhaled nitric oxide, child asthma control test, lung function and disease severity in children with asthmatic / 中国医师进修杂志

Objective To investigate the correlation among fractional exhaled nitric oxide (FeNO), child asthma control test(C-ACT) and lung function in asthmatic children and its clinical significance. Methods A total of 108 cases of asthmatic children in the Affiliated Hospital of Qingdao University from June 2016 to September 2018 were recruited. Forty-seven cases (47.44%) were in acute onset, 40 cases(40.37%) were in chronic persistent, and 21 cases (21.19%) were in paracmasis. FeNO, lung function and C-ACT score were measured, and the correlation among them was analyzed. Results The level of FeNO in acute onset patients and chronic persistent patients had no significant difference:(44.18 ± 25.47)×10-9 vs. (46.98 ± 27.50)×10-9, P>0.05, but the level of FeNO in paracmasis patients was lower [(24.43 ± 10.71) × 10-9], compared with that of acute onset patients and chronic persistent patients, there were significant differences (P < 0.01). The scores of C-ACT in three groups had significant difference (P < 0.01), and there were significant differences between any two groups (P <0.01). The levels of forced expiratory peak flow rate measured value as a percentage of predicted value (FEV1%) and forced expiratory volume and forced vital capacity ratio in the first second (FEV1/FVC) in acute onset patients were significantly lower than those in chronic persistent patients and paracmasis patients (P <0.01), and there were no significant differences between chronic persistent patients and paracmasis patients (P＞0.05). Conclusions Compared with lung functions and C-ACT, FeNO is a good biomarker to evaluate the airway inflammation of asthmatic children.

Effect of 1,25-dihydroxy vitamin D3 on food allergy in mice / 中华实用儿科临床杂志

Objective To investigate the effects of 1,25-dihydroxy vitamin D3 [1,25 (OH)2D3] on food allergy(FA) in mice and its mechanism.Methods A total of 40 BALB/c mice were randomly divided into 5 groups,8 in each group,including control group (group C) and FA model group (FA group),according to the dose of 1,25 (OH)2 D3 intervention,the mice of the FA group were divided into FA0 group (0),FA1 group [10 μg/(kg · d)],FAm group [50 μg/(kg · d)] and FAh group[100 μg/(kg · d)].Egg albumin was used to establish a food allergy model,with different doses of 1,25 (OH)2D3 for gastric intervention,and the control group was replaced by 9 g/L saline.The serum levels of ovalbumin-immunoglobulin E(OVA-IgE),interleukin (IL)-9 and IL-17 of mice were measured by using enzyme linked immunosorbent assay after the last excitation,and HE staining and histopathological examination were carried out in the small intestine of mice.Results Compared with group C,FAo group and FAh group small intestinal mucosa in mice had different degrees of damage,partial peeling off,structure disorder,villi epithelial cell focal falls peeling off,necrosis,lamina propria edema,congestion,a large number of inflammatory cells infiltration,low but the FA1 group and FAm group had light mucosa damage,intestinal epithelial basically intact,with integrity,no congestion,edema,and inflammatory cells infiltration to a lesser degree.The mean concentrations of serum IgE,IL-9 and IL-17 in different groups were statistically significant (F =40.770,9.530,5.624,all P ＜ 0.05).Compared with the FA0 group [(41.87 ±3.19) ng/L],the OVA-IgE of the FA1 group [(22.71 ±4.77) ng/L] and the FAm group [(16.34 ±2.81) ng/L] were significantly reduced (t =5.533,1 1.835,all P ＜ 0.01),but there was no significant difference between the FAh group [(36.29 ± 6.52) ng/L] (t =1.673,P ＞ 0.05).Compared with the FA0 group [(161.77 ±50.44) ng/L],the IL-9 levels of the FA1 group [(94.29 ± 18.79) ng/L] and the FAm group [(84.45 ± 30.88) ng/L] were significantly lower (t =3.267,3.366,all P ＜ 0.01),while that of the FAh group [(36.29 ±6.52) ng/L] was not significantly lower (t =0.777,P ＞0.05).Compared with FA0 group [(81.55 ±29.37) ng/L],IL-17 levels of FAh group [(133.58 ± 47.05) ng/L] was significantly increased (t =2.653,P ＜0.05),while IL-17 level of FA1 group [(79.41 ± 25.15) ng/L] and FAm group [(58.81 ± 26.00) ng/L] were lower than that of FAo group [(81.55 ±29.37) ng/L],but the difference was not statistically significant (t =0.154,1.640,all P ＞ 0.05).Conclusions Low,medium dose of 1,25 (OH) 2 D3 supplements can inhibit mice food allergies,but high doses of 1,25 (OH)2 D3 improve performance in mice food allergies,and 1,25 (OH)2 D3's influence on the secretion of IL-9 is one that influences mechanism of food allergy.

Effects of Pingchuan-Guben Decoction on airway chronic inflammation and remodeling in asthmatic mice / 中国综合临床

Objective To investigate the potential suppression role of Pingchuan-Guben Decoction in airway chronic inflammation and remodeling by observing the expression of vascular endothelial growth factor (VEGF) and NF-κB on the mice asthma model Methods Forty Kunming mice were randomly divided into three groups.Those were negative control group(A),asthma model group(B),Pingchuan-Guben Decoction group (C),and every group was 8 mice.Total and differential cells were counted from bronchoalveolar lavage fluid (BALF).Histological examination(HE) was performed to observe the general pathologic alteration and analyze the thickness of airway wall.The protein expression of VEGF and NF-κB were detected by immunohistochemistry.Results (1)HE staining showed that compared with the Pingchuan-Guben Decoction group,there were a large number of inflammatory cells infiltration,heavier smooth muscle hypertrophy and mucous membrane hyperemia in mice of the asthma group,(2) The Eosinophil cell counting in BALF,airway wall thickness NF-κB,VEGF expression levels in rats asthma model group were (2.15 ± 0.44) × 108/L,(16.66 ± 1.52) μm2/μm,(36.01 ± 4.78),(35.87 ± 4.92) respectively,significantly higher than that in control group ((0.03 ±0.03) × 108/L,(6.61 ± 1.14) μm2/μm,(12.78 ± 1.47),(11.57 ± 1.64) ;P ＜ 0.01).The Eosinophil cell counting in BALF,airway wall thickness NF-κB,VEGF expression levels in Pingchuan-Guben Decoction group were (0.35 ± 0.12) × 108/L,(11.57 ± 1.26) μm2/μm,(29.13 ± 1.92),(28.28 ± 2.02) respectively,significantly higher than that in rats asthma model group (P ＜ 0.01).Conclusion PingchuanGuben Decoction can decrease NF-κB and VEGF expression of asthma mice,and then inhibits airway chronic inflammation and remodeling.