Correlation analysis between executive dysfunction and serum glial-derived neurotrophic factor level in children with attention deficit/hyperactivity disorder / 中华行为医学与脑科学杂志

Objective:To explore the correlation between executive dysfunction and serum glial-derived neurotrophic factor (GDNF) levels in children with attention deficit hyperactivity disorder (ADHD).Methods:32 drug-free ADHD patients and 34 normal children matched in gender, age and IQ were included.The executive function was assessed using Digital Span Back Test (DSB-T), Trail Making Test (TMT), Semantic Fluency Test (SFT) and Stroop Color Word Test (SCW-T), and peripheral GDNF levels were measured by the enzyme linked immunosorbent assay (ELISA). The executive functional test scores and serum GDNF levels were compared between groups, and then the correlation between executive dysfunction and GDNF was analyzed by Spearman or pearson correlation analysis.Results:(1) In the ADHD group, the DSB-T and SFT scores were lower than those in the normal control group(DSB-T4: (2) vs 5(1); SFT(13.66±2.34) vs (15.21±2.13)( Z=3.16, t=2.82, both P<0.05) and the TMT-A and TMT-B time-consuming were higher than those in the normal control group(TMT-A(61.12±19.03)s vs (48.76±21.06)s; TMT-B(158.66±63.78)s vs (123.62±45.24)s, t=2.50, 2.59, both P<0.05). The Word color consumption, word interference and word color errors of SCW-T in ADHD group were higher than those in the normal control group(Word color consumption(56.41±21.65)s vs (45.97±13.42)s; word interference 27(25)s vs 20(15)s; word color errors 4(3) vs 2(1)), and the differences were statistically significant( t=2.37, Z=2.31, 2.11, all P<0.05). (2) Serum levels of GDNF in the ADHD group were lower than that in the normal control group((481.59±68.74)pg/ml vs (552.47±110.13)pg/ml) , and the difference was statistically significant ( t=3.11, P<0.05). (3) In the ADHD group, serum GDNF levels were negatively correlated with TMT-A, TMT-B and SCW-T word interference performance ( r=-0.512, r=-0.578, r=-0.432, all P<0.05), and positively correlated with DSB-T performance( r=0.381, P<0.05). Conclusion:Executive function is extensively damaged in ADHD patients, and GDNF may be involved in the pathophysiology of executive impairment.

Study on the level of peripheral serum glial-derived neurotrophic factor in children with attention deficit hyperactivity disorder / 中华行为医学与脑科学杂志

Objective To explore the changes of peripheral serum glial-derived neurotrophic factor (GDNF) levels in children with attention deficit hyperactivity disorder(ADHD),and to provide a new mark-er for early identification of ADHD in clinical practice. Methods Totally 42 drug-naive children with ADHD(ADHD group) and 45 healthy children(HC group) were included. General demographic informa-tion,scale scores,and fasting peripheral serum GDNF levels were compared between the two groups. Mean-while,the correlation between GDNF level and symptom severity score of children with ADHD was analyzed. Results There were significant differences in FSIQ,attention deficit, and hyperactivity/impulsivity scores between ADHD group and HC group(FSIQ(105. 26±13. 82) vs (114. 73±9. 93); attention deficit(23. 60± 5. 06) vs (20. 04±2. 85); hyperactivity/impulsivity(19. 43±3. 47) vs (15. 93±2. 42),all P<0. 05). Serum level of GDNF in the ADHD patients was significant lower than that in the HC group ((442. 52± 70. 01) pg/ml vs (554. 02±101. 37)pg/ml,P<0. 01). In addition,GDNF levels were negatively correlated with at-tention deficit scores in children with ADHD (radj=-0. 447,P<0. 01). More importantly,ROC curve results show that GDNF had good diagnostic value (AUC=0. 81). Conclusion GDNF levels decreased child with ADHD. Decreased serum GDNF levels have certain promising value in the diagnosis of ADHD.

Changes in brain structural network connection of children with attention deficit hyperactivity disorder / 中华实用儿科临床杂志

Objective@#To explore the changes in brain structure network connection in children with attention deficit hyperactivity disorder(ADHD), and to provide novel markers for early identification of ADHD in clinical practice.@*Methods@#Deterministic diffusion-tensor tractography and graph theory approaches were used to investigate the topologic organization of the brain structural connectome in 25 children with ADHD and 23 healthy control children from May 2017 to May 2018, at Children′s Hospital of Xuzhou Medical University.Individual white matter networks were constructed for each participant, then the global properties, nodal properties and edge-wise distributions were compared between the two groups.@*Results@#(1)The global efficiency of the ADHD group (0.30±0.13) was significantly lower than that of the healthy control group (0.38±0.11), but the clustering coefficient (0.35±0.28) and the characteristic path length (2.94±0.38) were significantly higher than those of the healthy control group (0.28±0.10, 2.65±0.37), and the differences were statistically significant (t=-2.41, 2.31, 2.62, all P<0.05). (2)In the ADHD group, the nodal efficiency of the left inferior frontal gyrus, triangular part (0.13±0.06), left supramarginal gyrus (0.30±0.10), left inferior parietal, angular gyri (0.29±0.10), left precuneus (0.26±0.12)were significantly lower than the healthy control group(0.17±0.07, 0.38±0.10, 0.40±0.12, 0.35±0.12), while the nodal efficiency of the right superior frontal gyrus, orbital part and right paracentral lobule were significantly higher than the healthy control group(0.49±0.17, 0.43±0.14), and the differences were statistically significant[t=-2.52, -2.62, -3.11, -2.77, 2.34, 2.79, all P<0.05, false discovery rate(FDR) corrected]. (3)A disrupted subnetwork was observed that consisted of left frontoparietal areas, basal ganglia, thalamus and insular network (P<0.05, FDR corrected), which has the potential to discriminate individuals with ADHD from healthy control children(area under receiver operating characteristic curve was 0.78). (4)Diminished strength of the subnet work connections was correlated with the attention defect in patients with ADHD(r=-0.607, P=0.003).@*Conclusions@#Using magnetic resonance diffusion tensor imaging, with the help of graph theory analysis technology, ADHD children can be observed changes in brain structure network at multiple levels.The distribution pattern of brain network structure connection changes is expected to become a new marker for identifying ADHD.

Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>Aicardi-Goutières syndrome (AGS) is a rare early-onset genetic encephalopathy. The aim of this study was to explore the clinical, imaging and genetic features of a family with AGS, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare disease in China. We summarized the characteristics of AGS through reviewing related references.</p><p><b>METHOD</b>Information of the proband and other family members as well as their DNA samples were collected. All the exons and exon-intron boundaries of pathogenic genes were amplified with PCR and were directly sequenced for genomic DNA. And we reviewed the reports of 252 cases.</p><p><b>RESULT</b>(1) The proband was a 6 years plus 7 months old boy. He presented with severe developmental delay and abnormal posture mainly as torsion of limbs. By physical examination he was found to have some chilblain-like skin lesions at the end of limbs and microcephaly. The CT scan of his head displayed multiple calcification, especially in the basal ganglia. The MRI of his head displayed a hypointense signal in T1-weighted (T1W) images and a hyperintense signal in T2-weighted (T2W) in cerebral white matter and cystic lesions in temporal white matter. The younger sister of the proband presented with chilblain-like skin lesions on her face and the end of limbs had no developmental delay. The CT of her head showed multiple calcification, especially in the basal ganglia. (2) Two mutations were identified in TREX1, one was a novel nonsense mutation (c.294_295insA), and the other was a known pathogenic mutation (c.868_885del). (3) The common performances of AGS included mental retardation [92% (231/252) ], dystonia [75% (189/252)], microcephaly [63% (159/252) ], chilblain [42% (106/252) ], basal ganglia calcification [100% (252/252)], brain atrophy[88% (222/252)] and cerebral white matter lesions [86% (217/252)]. TREX1 [38% (96/252) ] and RNASEH2B [23% (58/252)]are the most common pathogenic genes.</p><p><b>CONCLUSION</b>We determined pathogenic gene of these patients which is the basis of genetic counseling for this family. c.294_295insA mutation is a novel mutation not reported around the world yet.</p>

Studies about the level of CD4+ CD25+ regulatory T cells and relation between expression of Foxp3 and CD127 in peripheral blood of chronic HBV infection / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To investigate the level of CD4+ CD25+ Foxp3+ regulatory T cells and observe relation between expression of Foxp3 and CD127 in peripheral blood of chronic HBV infection.</p><p><b>METHODS</b>CD4+ CD25+ Foxp3+ and CD4+ CD25+ CD127low Treg in peripheral blood from 34 patients of immune tolerance stage, 26 patients of immune clearance stage and 31 patients of non-active status were quantitatively analyzed by flow cytometry.</p><p><b>RESULTS</b>Immune tolerance group presented a higher fraction of CD4+ CD25+ Foxp3+ and CD4+ CD25+ CD127low Treg than non-active group in chronic HBV infection (Z = -2.693, P = 0.007 and t = 3.251, P = 0.002), and HBV positive group also presented a higher fraction than non-active group (t = 2.266, P = 0.026 and t = 3.208, P = 0.002), But ALT normal group is similar to ALT abnormal group (P > 0.05). In this study, the relation between expression of CD127low and Foxp3+ from CD4+ CD25+ regulatory T cells was observed, and CD4+ CD25+ CD127low Treg presented a higher fraction than CD4+ CD25+ Foxp3+ Treg.</p><p><b>CONCLUSION</b>Peripheral Treg in HBV active replication group is higher than HBV negative group of chronic HBV infection. Expression of CD127low is consistent with Foxp3+ in CD4+ CD25+ regulatory T cells, but the former is significantly higher than the latter.</p>