Vitamin D status and tic disorder: a systematic review and meta-analysis of observational studies.

Objective: Tic disorders (TD) are a common neurodevelopmental disorder, it can be divided into transient tic disorder (TTD), chronic motor or vocal tic disorder (CTD), and Tourette syndrome (TS). Our research is to evaluate the clinical relationship between tic disorders and vitamin D level in children. Methods: Online databases, including CNKI, Wanfang, VIP, Cochrane Library, PubMed and Embase digital knowledge service platform, were checked up to June 2022 for relevant observational studies published in Chinese and English. A random-effects model was incorporated to summarize the study results. The RevMan5.3 software was used for meta-analysis. Results: Out of 132 retrieved articles, 13 observational studies were eligible for inclusion in the systematic review and meta-analysis, comparing serum Vitamin D levels between children with TD and HC (healthy controls), including different subtypes of TD (TTD, CTD and TS). The results showed that the serum vitamin D levels in the TD group were lower than those in the HC group (MD = -6.64, 95% CI: -9.36 to -3.93, P < 0.001, Heterogeneity test: P < 0.001, I2 = 94%). There were no statistically significant differences in serum vitamin D levels between the TTD group and the CTD group (MD = 3.84, 95% CI: -0.59 to 8.26, P = 0.09, Heterogeneity test: P < 0.001, I2 = 90%), or between the CTD group and the TS group (MD = 1.06, 95% CI: -0.04 to 2.16, P = 0.0, Heterogeneity test: P = 0.54, I2 = 0%). However, there was a statistically significant difference in serum vitamin D levels between the TTD group and the TS group (MD = 5.24, 95% CI: 0.68-9.80, P = 0.02, Heterogeneity test: P < 0.001, I2 = 92%). The study also found a statistically significant difference in the ratio of male children between the TD group and the HC group (OR = 1.48, 95% CI: 1.07-2.03, P = 0.02, Heterogeneity test: P < 0.001, I2 = 74%), but no statistically significant difference in the age of children between the TD group and the HC group (OR = 0.46, 95% CI: -0.33 to 1.24, P = 0.25, Heterogeneity test: P < 0.001, I2 = 96%). Conclusions: Our meta-analysis showed that the vitamin D level of children with TD was lower than that of healthy children. However, there was no difference between the subgroup. Due to the limitations of included studies in research design and diagnostic criteria, large samples, multi-center and high-quality studies are still needed for further analysis and confirmation.

Neuroinflammation in a Rat Model of Tourette Syndrome.

Objective: Tourette syndrome (TS) is a group of childhood-onset chronic neuropsychiatric disorders characterized by tics, i.e., repetitive, sudden, and involuntary movements or vocalizations, which is often associated with various psychopathological and/or behavioral comorbidities, including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and sleep disorders and have a worse prognosis. The mechanism of TS is still not clear. The relationship between immune activation, neuroinflammation, and neuropsychiatric disorders has attracted much attention in the past two decades. To explore the underlying mechanism in TS, the relationship between neuroinflammation and behavioral alterations in TS rats was investigated in this study. Methods: A total of 36 Sprague-Dawley male rats were divided into three groups randomly as follows: the TS, control (CON), and drug intervention groups. The TS rat group was treated with haloperidol (Hal) (the TS + Hal group). The TS rat model was established using 3,3-iminodipropionitrile (IDPN), which is a well-known animal model of TS. The behavioral syndromes, brain tissue cytokines, like interleukin (IL)-6 and tumor necrosis factor-alpha (TNF-α), and microglial activation of the three groups were assessed. Results: The behavioral scores of rats in the TS group and the TS + Hal group were higher than those in the CON group (P < 0.05), but the scores of behavioral tests in the TS + Hal group were lower than those in the TS group (P < 0.05). The levels of IL-6 and TNF-α in the rat brain tissue were significantly higher in the TS group than in the CON group (P < 0.05), while no significant differences were found between the CON group and the TS + Hal group (P > 0.05). The microglia was significantly activated in the TS group and slightly activated in the TS + Hal group, which was considerably less than that in the TS group. Conclusion: The IDPN-induced TS rats had significant neuroinflammation in the brain, and the interaction between dopamine (DA) dysregulation and immune dysfunction may play a vital role in the pathogenic mechanisms of TS.

Case report of neurodevelopmental disorder associated with de novo MORC2 mutation / 中华实用儿科临床杂志

The clinical data of a child with MORC2 gene mutation related neurodevelopmental disorder treated in Fujian Medical University Union Hospital in July 2020 were analyzed retrospectively.The male (7-year-old)patient was global retardation from infant, with special face, short stature, small head circumference, decreased muscle strength and positive pyramidal tract sign of lower limbs.Brain magnetic resonance imaging was similar to the changes of Leigh syndrome.Genetic testing found de novo mutation in MORC2 gene chr22: 31345763, c.292G>A(p.Gly98Arg). And literature review found that there was only one related report. MORC2 gene mutation related neurodevelopmental disorder is a newly discovered syndrome, and c. 79G>A(p.Glu27Lys) is the most common mutation.This case enriched the clinical phenotype and genotype of neurodevelopmental disorder related to MORC2 gene.

Observation of clinical effects of Perampanel on the add-on therapy in 2-12 year-old children with drug-resistant epilepsy / 中华实用儿科临床杂志

Objective:To observe the clinical effect of Perampanel on the add-on therapy in children with drug-resistant epilepsy.Methods:Clinical data of children with drug-resistant epilepsy treated with add-on therapy of Perampanel in the Department of Pediatrics, Fujian Medical University Union Hospital from January to June 2020 were retrospectively analyzed, aiming to assess the therapeutic efficacy of Perampanel on the add-on therapy of drug-resistant epilepsy.The self-control effective rate of Perampanel before and after treatment were counted.Results:A total of 20 cases of 2-12 year-old children with drug-resistant epilepsy were collected, including 14 males and 6 females.Their mean age, age of onset and course of disease were (5.82±2.39) years, (3.41±1.96) years and (2.40±1.48) years, respectively.Among them, 1 case had simple partial seizures, 7 cases had complex partial seizures, 1 case had generalized seizures and 5 cases had epilepsy syndromes, there were 6 cases with undetermined seizure attack.After 3-month add-on therapy of Perampanel, 4 cases of children with drug-resistant epilepsy were seizure-free, 8 cases had the reduced frequency of seizure for 50% or more, 2 cases had the reduced duration of seizure, 1 case had the reduced severity of seizure, while 4 cases did not respond to perampanel and 1 case was aggravated.Based on the criteria of reduced frequency of seizure for more than 50%, the therapeutic efficacy of add-on therapy of Perampanel achieved 60% in children with drug-resistant epilepsy.Conclusions:The third generation of anti-seizure medication Perampanel can effectively reduce the frequency of seizure, especially in the elder children and those with certain epilepsy syndromes.

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.

Joubert syndrome (JBTS) is a rare ciliopathy characterized by developmental delay, hypotonia, and distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). We reported a 15-month-old female with dysmorphic features (flat nasal bridge, almond-shaped eye, and a minor midline notch in the upper lips), hypotonia, polydactyly, development delay, and MTS. Whole exome sequencing revealed biallelic heterozygous mutations c.535C>G(p.Q179E/c.853G>T) (p.E285*) in IFT74, which were inherited from the parents. So far, only one article reported JBTS associated with IFT74 gene mutation, and this is the second report of the fifth patient with JBTS due to variants in IFT74. All five patients had developmental delay, postaxial polydactyly, subtle cleft of the upper lip, hypotonia, and MTS, but notably without renal and retinal anomalies or significant obesity, and they shared the same mutation c.535C>G(p.Q179E) in IFT74, and c.853G>T(p.E285*) that we found was a new mutation in IFT74 that related with Joubert syndrome. Those findings highlight the need for the inclusion of IFT74 in gene panels for JBST testing.

Ketogenic diet therapy in the epilepsy of infancy with migrating focal seizures associated with TBC1D24 gene mutation: two case reports and literature review / 中华神经科杂志

Objective:To investigate the efficacy and safety of ketogenic diet (KD) therapy in the epilepsy of infancy with migrating focal seizures (EIMFS) associated with TBC1D24 gene mutation.Methods:Clinical data of two children with TBC1D24 gene-related EIMFS were collected retrospectively, who were admitted to Department of Pediatrics, Fujian Medical University Union Hospital from 2019 to 2020. Their clinical characteristics and the efficacy and safety of KD therapy were analyzed, and literature review was conducted.Results:Seizures were onset before six months old in the two children with TBC1D24 gene-related EIMFS. Multifocal myoclonic seizures were manifested and happened frequently, lasting for more than 30 minutes sometimes. Developmental retardation was obvious in the two children. A small amount of focal sharp, spike, sharp-slow complex, and spike-slow complex waves were showed in the interictal electroencephalography (EEG). TBC1D24 gene mutations were found in the two children, one with a compound heterozygous mutation (c.1025C>T, p.S342L; c.229_c.240delATCGTGGGCAAG,p.I77_K80del), and the other with a homozygous mutation [c.119G>A,p.R40H(Arg40His)]. Both of those were potentially pathogenic. A variety of anti-epileptic drugs showed poor outcome for the two children. The epilepsy was drug-refractory one. After four to 17 months of KD therapy, the epilepsy in the two children was controlled effectively. There was not obvious adverse reactions. Among six children with TBC1D24 gene-related EIMFS in the literature review, four cases were effective or partially effective for KD therapy, one was discontinued due to insufficient ketogenic ratio, and one was discontinued without effect. There were no obvious adverse reactions in the six children.Conclusions:TBC1D24 gene-related EIMFS is mostly drug-refractory epilepsy. Early KD therapy may help to control seizures.

Clinical value of serum cortisol as a biomarker in the diagnosis of attention deficit hyperactivity disorder / 中华实用儿科临床杂志

Objective:To explore the relationship between serum cortisol and attention deficit hyperactivity disorder (ADHD), and to investigate the application of cortisol in the diagnosis of ADHD, so as to provide clues and theoretical basis for the comprehensive prevention and treatment of ADHD in the future.Methods:Serum cortisol levels were detected in 159 ADHD children [ADHD group, 58 cases of predominately inattentive presentation (ADHD-I), 32 cases of predominately hyperactive/impulsive presentation (ADHD-HI), 69 cases of combined presentation (ADHD-C)], and 58 healthy control children (healthy control group) from July 2018 to June 2019, at Fujian Medical University Union Hospital.The receiver operating characteristic (ROC) was used to evaluate the diagnostic value of serum cortisol levels in ADHD groups.Results:(1) The serum cortisol levels of ADHD-I group[(216.58±70.55) nmol/L], ADHD-HI group[(182.26±51.34) nmol/L]and ADHD-C group[(222.81±75.70) nmol/L]were significantly lower than that of the healthy control group[(344.83±98.17) nmol/L](all P<0.001). The level of cortisol in ADHD-HI group was lower than that in ADHD-I group and ADHD-C group ( P<0.05). (2)According to the ROC analysis of serum cortisol, the area under the ROC curve for the diagnosis of ADHD group was 0.866 (95% CI: 0.814-0.917), the maximum Youden index was 0.583, the corresponding sensitivity was 89.3%, the specificity was 69.0%, and the cut-off was 302.88 nmol/L.When the specificity was 85.0%, 246.13 nmol/L was the diagnostic threshold and its corresponding sensitivity was 71.1%.Under the ROC curve for the diagnosis of ADHD-I group, the area was 0.857 (95% CI: 0.792-0.922), the maximum Youden index was 0.552, the corresponding sensitivity was 69.0%, the specificity was 86.2%, and the cut-off was 243.39 nmol/L.Under the ROC curve for the diagnosis of ADHD-HI group, the area was 0.934 (95% CI: 0.887-0.980), the maximum Youden index was 0.745, the corresponding sensitivity was 96.9%, the specificity was 77.6%, and the cut-off was 261.55 nmol/L.Under the ROC curve for the diagnosis of ADHD-C group, the area was 0.841 (95% CI: 0.774-0.908), the maximum Youden index was 0.559, the corresponding sensitivity was 87.0%, the specificity was 69.0%, and the cut-off was 302.82 nmol/L.In view of parents′ lack of understanding of ADHD behavior, it is suggested that the diagnostic threshold of cortisol level of 246.13 nmol/L should be based on 85.0% specificity principle, combined with behavior verification in clinical practice, so as to improve the diagnostic accuracy. Conclusions:Cortisol levels in ADHD-I, ADHD-HI and ADHD-C groups are lower than that in control group.There is functional impairment of hypothalamic-pituitary-adrenal axis in ADHD children.The level of cortisol has certain accuracy in the diagnosis of simple ADHD and can be used in clinical diagnosis.

Soil liming effects on CH4, N2O emission and Cd, Pb accumulation in upland and paddy rice.

Keeping in view the expanding environmental pollution and irrigation water deficit, a pot experiment was performed for the upland (Huyou2, Hanyou737) and paddy rice cultivars (Taigeng8; Yixiang2292), to study soil liming effects on methane (CH4) and nitrous oxide (N2O) emission, bioavailability and accumulation of Cd, Pb in upland and paddy rice. Upland rice reduced 90% of soil CH4 emission as compared to paddy conditions. Soil CH4 emission decreased by 45% and 39% with dolomite, and it reduced by 35% and 33% with lime treatment both in upland and paddy conditions, respectively. Soil N2O emission decreased by 44% and 52% with dolomite, and with the lime application, it was reduced by 37% and 44% for both upland and paddy conditions respectively. Reduction in soil DTPA-extractable Cd was between 37-53% and 43-80% with dolomite and 16-37% and 24-72% Cd decreased with lime application in upland and paddy conditions respectively. Soil DTPA-extractable Pb reduced by 27-44% and 25-53% with dolomite and 16-40% and 11-42% with soil-applied lime in upland and paddy conditions, respectively. Cd accumulation in rice grain was decreased by 47-88% and 62-79% with dolomite and 31-86% and 45-52% reduction by lime application in upland and paddy rice respectively. Rice grain Pb reduced by 58-91% and 66-78% with dolomite application and 32-71% and 44-71% with lime in upland and paddy rice, respectively. Our results showed that soil liming significantly reduced soil N2O and CH4 emission and Cd, Pb accumulation in rice grain, but dolomite was more effective as compared to lime. Altogether, results of this study suggest that upland rice can be cultivated in CdPb polluted soils with least soil CH4 emission. Cd and Pb toxicity, accumulation, and N2O emission in upland rice can be minimized by soil liming of 3 g kg-1 and optimizing the nutrients composition of the soil.

Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency / 中华医学遗传学杂志

Objective@#To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.@*Methods@#The clinical features, family history and results of genetic testing of 2 patients with AADC deficiency were retrospectively analyzed.@*Results@#Both patients featured hypotension, developmental delay and oculogyric crisis during infancy.Genetic testing confirmed that they have respectively carried c. 714+ 4 (IVS6) A>T/c.175(exon2)G>A compound heterozygous variants and c. 714+ 4(IVS6)A>T homozygous variant.@*Conclusion@#The clinical manifestation of children with AADC deficiency may include hypotonia, developmental delay and paroxysmal oculogyric crisis. The combination of 3-O-methyldopa testing and variant analysis is not only very useful for early diagnosis, but also important for the evaluation of treatment effect and prognosis of the disease. Discovery of the novel variants has enriched the variant spectrum of AADC deficiency.

Effect of ketogenic diet on vascular endothelial function in children with intractable epilepsy / 中华实用儿科临床杂志

Objective@#To study the effect of ketogenic diet (KD) on vascular endothelial function in children with intractable epilepsy.@*Methods@#Clinical informations of 14 children with intractable epilepsy in Fujian Medical University Affiliated Union Hospital from May 2014 to March 2018 were collected.Their blood index values were tested and retested before and after 3 months of KD treatment, including triglycerides (TG), total cholesterol (TC), high-density lipoprotein (HDL), low density lipoprotein (LDL), nitric oxide (NO), endothelin-1 (ET-1), and von Willebrand factor (vWF). These data were statistically analyzed by using repeated measurement analysis of variance.@*Results@#(1)Changes in blood lipid levels: the levels of TG and TC increased slightly [(1.08±0.14) mmol/L, (5.19±0.64) mmol/L vs.(0.97±0.10) mmol/L, (4.57±0.29) mmol/L]and the level of HDL decreased slightly [(1.19±0.08) mmol/L vs.(1.31±0.08) mmol/L]after 3 months of KD treatment, but the differences were not statistically significant in the above indexes (all P>0.05). The level of LDL before KD was significantly lower than that after 3 months of KD [(2.93±0.25) mmol/L vs.(3.73±0.40) mmol/L ], and the difference was statistically signi-ficant(P=0.034). (2)Assessment of vascular endothelial function: compared with before KD, all the levels of NO [(60.84±5.29) μmol/L vs.(66.45±5.39) μmol/L ], ET-1 [(1.24±0.30) ng/L vs.(2.13±0.78)ng/L] and vWF [(150.53±12.97) μg/L vs.(137.57±13.10) μg/L]had no statistically significant changes after 3 months of KD(all P>0.05).@*Conclusions@#KD treatment lasting 3 months in children with intractable epilepsy can raise the level of LDL, but can′t change the vascular endothelial function.

Effect of ketogenic diet on vascular endothelial function in children with intractable epilepsy / 中华实用儿科临床杂志

Objective To study the effect of ketogenic diet(KD)on vascular endothelial function in children with intractable epilepsy. Methods Clinical informations of 14 children with intractable epilepsy in Fujian Medical University Affiliated Union Hospital from May 2014 to March 2018 were collected. Their blood index values were tested and retested before and after 3 months of KD treatment,including triglycerides( TG),total cholesterol( TC),high－density lipoprotein( HDL),low density lipoprotein( LDL),nitric oxide( NO),endothelin －1( ET －1),and von Willebrand factor(vWF). These data were statistically analyzed by using repeated measurement analysis of variance. Results (1)Changes in blood lipid levels:the levels of TG and TC increased slightly[(1. 08 ± 0. 14)mmol/L, (5. 19 ± 0. 64)mmol/L νs.(0. 97 ± 0. 10)mmol/L,(4. 57 ± 0. 29)mmol/L]and the level of HDL decreased slightly [(1. 19 ± 0. 08)mmol/L νs.(1. 31 ± 0. 08)mmol/L]after 3 months of KD treatment,but the differences were not sta﹣tistically significant in the above indexes(all P＞0. 05). The level of LDL before KD was significantly lower than that after 3 months of KD[(2. 93 ± 0. 25)mmol/L νs.(3. 73 ± 0. 40)mmol/L ],and the difference was statistically signi﹣ficant(P﹦0. 034).(2)Assessment of vascular endothelial function:compared with before KD,all the levels of NO [(60. 84 ± 5. 29)μmol/L νs.(66. 45 ± 5. 39)μmol/L ],ET－1[(1. 24 ± 0. 30)ng/L νs.(2. 13 ± 0. 78)ng/L]and vWF[(150. 53 ± 12. 97)μg/L νs.(137. 57 ± 13. 10)μg/L]had no statistically significant changes after 3 months of KD(all P＞0. 05). Conclusions KD treatment lasting 3 months in children with intractable epilepsy can raise the level of LDL,but can′t change the vascular endothelial function.

Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.@*METHODS@#The clinical features, family history and results of genetic testing of 2 patients with AADC deficiency were retrospectively analyzed.@*RESULTS@#Both patients featured hypotension, developmental delay and oculogyric crisis during infancy. Genetic testing confirmed that they have respectively carried c.714+ 4 (IVS6) A to T/c.175(exon2)G TO A compound heterozygous variants and c.714+ 4(IVS6)A to T homozygous variant.@*CONCLUSION@#The clinical manifestation of children with AADC deficiency may include hypotonia, developmental delay and paroxysmal oculogyric crisis. The combination of 3-O-methyldopa testing and variant analysis is not only very useful for early diagnosis, but also important for the evaluation of treatment effect and prognosis of the disease. Discovery of the novel variants has enriched the variant spectrum of AADC deficiency.

Surveillance of antimicrobial resistance in the Streptococcus pneumoniae strains isolated from respiratory tract of children / 中国感染与化疗杂志

Objective To investigate the antimicrobial resistance profile of the Streptococcus pneumoniae strains isolated from respiratory tract of children in Zhongshan Boai Hospital, Guangdong Province for better management of such infections. Methods The sputum samples were collected from respiratory tract of children in pediatric outpatient and inpatient from May 2013 to August 2017. S. pneumoniae strains were isolated and identified and their susceptibility to antimicrobial agentswas determined. Results The prevalence of S. pneumoniae was 10.6％ (2 963/28 006) in the sputum samples. S. pneumoniae was mainly isolated from children under 6 years old, and relatively higher in winter and spring. About 43.0％ of the S. pneumoniae isolates was associated with mixed infection, especially Moraxella catarrhalis and Haemophilus influenzae. About 6.0％ of the S. pneumoniae isolates were non-susceptible to penicillin, 59.3％ non-susceptible to ceftriaxone, and more than 95％ non-susceptible to erythromycin, clindamycin or tetracycline. However, more than 95％ of the isolates were susceptible to chloramphenicol or ofloxacin. No S. pneumoniae isolate was found resistant to rifampin, linezolid or vancomycin. Conclusions The respiratory tract infection caused by S. pneumoniae of children is increasing year by year, which is associated with age, season, and higher rate of mixed infection. These data showed that penicillin non-susceptible S. pneumoniae is highly prevalent in Zhongshan. More than 95％ of the S. pneumoniae isolates from children are resistant to erythromycin, clindamycin or tetracycline. S. pneumoniae isolates should be closely monitored for the emergence of multidrug resistant strains. Appropriate control measures must be taken according to the results of susceptibility testing.

Comparison study on the clinical effect of transabdominal preperitoneal prosthetic and lichtenstein operation for treating recurrent inguinal hernia / 国际外科学杂志

Objective To compare the efficacy and safety of transabdominal preperitoneal prosthetic and lichtenstein operation for treating recurrent inguinal hernia.Methods In this study,116 patients with recurrent inguinal hernia treated in First People's Hospital of Xianyang from June 2012 to June 2016 were divided into transabdominal preperitoneal prosthetic group (n =58) and Lichtenstein group (n =58) according to the operation method.The operation time,hospitalization time,postoperative exhaust time and postoperative temperature and cost were compared between two groups.Postoperative complications including wound infection,urinary retention,visceral injury,and foreign body sensation in groin area were recorded.Results Lichtenstein group had significantly higher operative time,hospital stay,postoperative exhaust time and postoperative temperature than those in transabdominal preperitoneal prosthetic group [(55.4 ± 9.6) min and (41.5 ± 5.2) min;(4.15 ± 1.08) d and(2.66±0.43) d;(0.82 ±0.40) d and (0.45±0.21) d;(38.1 ±0.9) ℃ and (37.2±0.6) ℃ respectively],but the cost of lichtenstein group [(3 110 ± 614) yuan] was lower than that of transabdominal preperitoneal prosthetic group [(4 586 ± 925) yuan],with the statistically significant differenc (P ＜ 0.05).Conclusions Transabdominal preperitoneal prosthetic has better clinical outcome and safety for treating recurrent inguinal hernia,compared to litchtenstein operation.Therefore,transabdominal preperitoneal prosthetic surgery is a clinical treatment worthy listening.

Dietary therapy in children with autism spectrum disorder / 国际儿科学杂志

Autism spectrum disorder(ASD)is a severe neurodevelopmental disorder of children that leads to disability which lacks of effective treatment.The specific pathogenesis of ASD remains unclear,which may involve in multiple factors.In recent years,many studies have shown that children with ASD have gastroin-testinal(GI)abnormalities and some special diet therapies can effectively ameliorate the symptoms of ASD. These diets include gluten free diet,sensitive or harmful food removing therapy and ketogenic diet.The patients with ASD have GI inflammation or allergy,energy metabolism disorder,oxidative stress injury,neurotransmitter disturbance and dysbiosis of intestinal flora.Diet therapy may improve ASD symptoms by correcting disorders a-bove.This article reviews the application and the related mechanism of diet therapy in ASD children and the effect of diet therapy on the growth and the development of children.

Effect of glucocorticoids on the level of endogenous glucocorticoids in neonatal rats with intracranial hemorrhage / 中华实用儿科临床杂志

Objective To explore the change of endogenous glucocorticoids (GC) secretion after intracranial hemorrhage (ICH) of neonatal rats and the impact of Dexamethasone (DEX).Methods Ten-day-old Sprague-Dawley rat pups of both sexes were randomized into 11 groups:normal control group(CON group),sham operated group (SHAM group),ICH group(each of which was further subgrouped into 12 h group,24 h group and 72 h group according to execution time after the modeled operation),glucocorticoids receptor (GR) agonist intervene group (DEX group) and GR antagonist intervene group(RU486 group).The intracranial autologous blood injection model of ICH was employed.Neurological functional deficits was measured by neurological deficit score (NDS),the levels of cerebral homogenate GC were tested by the emission immunology method,and the pathologic change and the expression of GR in hippocampus CA1 were examined by using Nissl staining and immunofluorescence separately.Results (1) Seventy-two-hour after the modeled operation,NDS of rats in the ICH group reached (7.48 ± 2.19) scores.After intervened by DEX,NDS of rats in DEX group decreased to (3.15 ± 1.93) scores,significantly lower than in ICH group,the difference was significant (P ＜ 0.05).The necrotic neurons were found around the hematoma of rats in ICH group,while in DEX group,less necrotic neurons were found.(2)In ICH group,the GC level in cerebral homogenate climbed up to a peak of (1.359 1 ±0.308 5) μg/L at 12 h,and slowly went down.By the end of 72 h,the GC level was (0.951 0 ±0.036 1) μg/L,which was higher than those of the CON group[(0.621 3 ±0.039 3) μg/L],the difference was significant (P ＜ 0.05),while in the DEX group,the level of GC in cerebral homogenate showed no difference with statistics from CON group.(3)The mean integrated optical density (IOD) of GR in hippocampal CA1 of rats in the ICH group (1.282 4 ± 0.035 6) were much more smaller than those in the CON group (1.012 5 ± 0.027 3,P ＜ 0.05),which meant the down-regulated expression of GR.(4) No difference was found in the NDS,pathological change,GC level and GR expression between RU486 group and ICH group.DEX didn't effect the expression of GR.Conclusions ICH in neonatal rat disturbs the modulation of hypothalamus-pituitary-adrenal axis,with an increase in the GC level and less GR expression.Early application of exogenous GC helps protect the neurons.

Effect of glucocorticoids on the level of endogenous glucocorticoids in neonatal rats with intracranial hemorrhage / 中华实用儿科临床杂志

Objective To explore the change of endogenous glucocorticoids (GC) secretion after intracranial hemorrhage (ICH) of neonatal rats and the impact of Dexamethasone (DEX).Methods Ten-day-old Sprague-Dawley rat pups of both sexes were randomized into 11 groups:normal control group(CON group),sham operated group (SHAM group),ICH group(each of which was further subgrouped into 12 h group,24 h group and 72 h group according to execution time after the modeled operation),glucocorticoids receptor (GR) agonist intervene group (DEX group) and GR antagonist intervene group(RU486 group).The intracranial autologous blood injection model of ICH was employed.Neurological functional deficits was measured by neurological deficit score (NDS),the levels of cerebral homogenate GC were tested by the emission immunology method,and the pathologic change and the expression of GR in hippocampus CA1 were examined by using Nissl staining and immunofluorescence separately.Results (1) Seventy-two-hour after the modeled operation,NDS of rats in the ICH group reached (7.48 ± 2.19) scores.After intervened by DEX,NDS of rats in DEX group decreased to (3.15 ± 1.93) scores,significantly lower than in ICH group,the difference was significant (P ＜ 0.05).The necrotic neurons were found around the hematoma of rats in ICH group,while in DEX group,less necrotic neurons were found.(2)In ICH group,the GC level in cerebral homogenate climbed up to a peak of (1.359 1 ±0.308 5) μg/L at 12 h,and slowly went down.By the end of 72 h,the GC level was (0.951 0 ±0.036 1) μg/L,which was higher than those of the CON group[(0.621 3 ±0.039 3) μg/L],the difference was significant (P ＜ 0.05),while in the DEX group,the level of GC in cerebral homogenate showed no difference with statistics from CON group.(3)The mean integrated optical density (IOD) of GR in hippocampal CA1 of rats in the ICH group (1.282 4 ± 0.035 6) were much more smaller than those in the CON group (1.012 5 ± 0.027 3,P ＜ 0.05),which meant the down-regulated expression of GR.(4) No difference was found in the NDS,pathological change,GC level and GR expression between RU486 group and ICH group.DEX didn't effect the expression of GR.Conclusions ICH in neonatal rat disturbs the modulation of hypothalamus-pituitary-adrenal axis,with an increase in the GC level and less GR expression.Early application of exogenous GC helps protect the neurons.

A homozygous mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy: a case report / 临床儿科杂志

Objective To explore the clinical and the genetic features of infantile neuroaxonal dystrophy (INAD).Methods The clinical and laboratory data,neuroimaging examination and genetic testing results of one child with INAD were retrospectively analyzed.Results A 2 years old boy presented motor and verbal dexterity regression and hypotonia.Laboratory findings revealed decreased total iron-binding capacity in serum with increased glutamic oxaloacetic transaminase (AST) and lactic dehydrogenase (LDH).Myoelectrography showed neurogenic impairments of the arms and legs,and the color doppler ultrasound of the heart,video-EEG and brain MRI results were normal.A homozygous mutation of c.1077G＞A was found in PLA2G6 gene of the infant.The infant's parents were heterozygous mutation carriers at this locus.Conclusions PLA2G6 gene mutations cause INAD.

Effect of unilateral basal ganglia hemorrhage on long-term behavioral development of neonatal rats / 中华实用儿科临床杂志

Objective To investigate the effect of unilateral basal ganglia hemorrhage on long -term behavio-ral development of neonatal SD rats.Methods Forty -eight neonatal SD rats (1 0 days after birth)were equally divided into cerebral hemorrhage (CH)group,sham operation (SH)group and normal control (NC)group randomly, 1 6 cases for each group.Stereotaxic apparatus was used to inject autologous blood 25 μL into rats′brain caudate nu-cleus to establish basal ganglia hemorrhage model,while SH group was injected with nothing,and NC group received no treatment.Berderson scoring method was used to test rats′neurological functions on the first day,the third day,the seventh day,and the fourteenth day after operation,respectively.The open -field environment test and the Lat maze were used to assess behavior of the rats on the fourteenth day after operation,lasting for 3 days continuously.Results (1 )After being modeled rats appeared with different degrees of neurological function damage.SH group rats′neurologi-cal function damage was slight,which was completely restored in the 72 hours after surgery.CH group rats appeared hemiplegia and muscle tension change.CH rats neurological scores′on the first and third day after modeling scores were separate (3.40 ±0.83)scores and (1 .1 3 ±0.92)scores respectively,and the scores were statistically higher than SH group [(0.73 ±0.59)scores and (0.1 3 ±0.35)scores]and NC group (all P 0.05).(2)On the fourteenth day after modeling,in open -field test and the Lat maze,the number of passed panels,straightening(times)and grooming(times)in CH group were more than those in SH group and NC group respectively (all P 0.05 ). Conclusions Neonatal rats focal hemorrhage in unilateral basal ganglia is strongly repairable and compensatory,which leaves no severe neurological dysfunction.The neurological function damage which is caused by unilateral basal ganglia hemorrhage can lead to the increase of autonomic activities,the decrease of non -selective attention level,attention defi-cit and other long -term behavioral abnormalities.

Experimental animal models in attention deficit hyperactivity disorder / 中华行为医学与脑科学杂志

Objective To review the advantages and disadvantages of common attention deficit hyperactivity disorder(ADHD) animal models,published in 2000-2014 at home and abroad,with an attempt to provide new ideas for the future study of the pathogenesis in ADHD.Methods Major online database including CNKI,Wan Fang databases,OVID,Pubmed databases were searched in January 2015,using the key wordsattention deficit hyperactivity disorder, animal modelsand so on,to analysis the advantages and disadvantages of each type of experimental animal models and research value in ADHD.Results Totally 29 studies were enrolled,and the analysis show that the current commonly used experimental animal models of ADHD are spontaneously hypertensive rats,dopamine transporter gene knockout mice,lack of mutant mice model,neonatal 6 hydroxy dopamine damage of juvenile rat model,neonatal hypoxic rats model,X-ray irradiation injury model of rat hippocampus and other brain tissue damage model and isolated feeding model,and each animal model has the advantages,disadvantages and special research value of the pathogenesis of ADHD.Conclusion The specific pathogenesis of ADHD is unclear,but the neuroendocrine changes especially HPA axis attracted much attention in recent years.this paper summarizes the research at home and abroad comparison of several common animal models of ADHD.neuroendocrine changes in SHR and ADHD children have a certain degree of consistency in HPA axis,looking for ADHD children and SHR in neuroendocrine aspects of consistency is likely to open a new path to search the pathogenesis in ADHD.