Objective To investigate the differential diagnosis of Reye syndrome and the characteristics of primary carnitine deficiency,and to provide diagnostic strategy for similar cases.Methods There was a case presented with fever,poor response,convulsions and hepatomegaly hospitalized in Wuhan Children's Hospital,and the clinical manifestations were described,the physical examination was comprehensively conducted,the auxiliary examination results were recorded,some pediatric specialists from ICU,neurology department,genetic metabolic department,digestive system department were invited to discuss the case.The treatment was adjusted according to the suggested opinions;the treatment effects and the final diagnosis were tracked.Results The primary diagnosis of the case was central nervous system infection or toxic encephalopathy at the time of admission,but Reye syndrome could not be excluded.Although the cerebrospinal fluid test and brain MRI examination detected nothing abnormal,liver function suggested alanine aminotrans ferase ALT increase,blood sugar decrease,the liver volume increase,which was detected by liver ultrasound.Blood amino acids examination revealed the carnitine level decreased,and it was confirmed as primary carnitine deficiency in the end.L-carnitine was used to treat the disease,and its effect was good.Conclusions Great importance should be attached to children with onset age,physical check-up,and multidisciplinary cooperation.Use monism to explain the illness and the auxiliary inspection as far as possible,so that it can get early diagnosis and treatment,and the outcome is good.

Objective To investigate the mechanism of white matter damage (WMD) and the neuroprotective effect of Xenon on neonates with WMD.Methods Three-day-old SD rat pups (n =96) were randomly divided into the blank control group (n =24),the WMD control group (n =24),the Xenon intervention group A (n =24) and the Xenon intervention group B (n =24) by random number method according to their birth time.WMD rat models were successfully established by giving intraperitoneal injection of lipopolysaccharide(LPS) 0.05 mg/kg combined with carotid artery ligation and hypoxia for 1 hour in the WMD control group and the Xenon intervention groups.In the control group,only 9 g/L saline (0.05 mg/kg) was injected intraperitoneally,while carotid artery ligation and hypoxia were not administered.Rats in Xenon intervention group A and group B were given inhalation of 500 mL/L Xenon for 3 hours at 0 and 2 hours respectively after establishment of the models.Six rats in each group were randomly selected and decapitated at 0,24,48 and 72 hours after the intervention.The brain white matter on the right was analyzed by using HE staining and myelin basic protein(MBP) immunofluorescence staining,and real-time quantitative polymerase chain reaction was used to detect the expressions level of CLIC4 mRNA.Results (1) Brain tissue pathology:compared with the blank control group,the brain white matter on the right of the WMD control group and the Xenon intervention group A and group B had loose and disordered structure,nuclear pyknosis and cytoplasm loosening.However,the lesions in both Xenon intervention group A and group B were significantly less than those in the WMD control group,and there was no significant difference between the Xenon intervention group A and group B.(2) MBP measurement:the number of MBP-positive cells in the brain white matter on the right of WMD control group was significantly lower than that in the blank control group,while compared with WMD control group,they were significantly higher in Xenon intervention group A and group B.(3) CLIC4 mRNA expression level:compared with blank control group,the expressions levels of CLIC4 mRNA at most time point were higher both in the WMD control group and the Xenon intervention group A and group B (all P ＜ 0.05),except the time point 24 h in the Xenon intervention group A.The expressions of CLIC4 mRNA in group A and group B were significantly decreased compared with those in the WMD control group (all P ＜ 0.05).However,there were no significant differences between Xenon intervention group A and group B (P ＞ 0.05).Conclusions The expressions of CLIC4 mRNA in brain tissues on neonatal rats with WMD significantly increased,indicating that the mitochondrial pathway could be one of the pathological processes of WMD.Early Xenon intervention may reduce neonatal WMD by reducing the expression of CLIC4 mRNA,which plays a neuroprotective role.

Objective To evaluate the application value of quantitative immune fecal occult blood test (FOBT) in colonoscopy for the screening of colorectal cancer in health check-up participants. Methods The subjects were selected from July 2017 to June 2018 in the Health Management Center of the Second Affiliated Hospital of Suzhou University. The subjects were the healthy individuals who chose quantitative immune FOBT or chemical method plus immunogold double-method FOBT (referred to as"double-method FOBT"), excluding those who had interfering factors. Individuals with a positive result in primary screening were selected and conducted with colorectal cancer by colonoscopy. If the polyploidy lesions were observed during colonoscopy, the biopsy or excision was performed, and the pathological diagnosis was performed. The positive rate of primary screening, compliance rate of colonoscopy and pathological results of colonoscopy were compared between the two methods. Quantitative immunoassay FOBT was analyzed in different gender, age group, physical examination nature, positive rate of primary screening, compliance rate of colonoscopy and pathological results of colonoscopy. Results 18 728 people chose quantitative immunoassay FOBT and 6 212 people chose double-method FOBT at the same time. There was no significant difference in gender and age between the two groups (all P>0.05), which was comparable. The detection rate of quantitative immune FOBT was higher than double-method FOBT (74.62% vs 32.23%, P<0.001). The positive rate of quantitative immune FOBT in primary screening was lower than double-method FOBT (4.11% vs 5.34%, P=0.003). The colonoscopy screening rate in positive population by quantitative immune FOBT was higher than double-method FOBT (27.83% vs 13.08%, P=0.001). These differences were statistically significant. The detection rate of total lesions by colonoscopy was 71.88% in positive population by quantitative immune FOBT. It was 42.86% in double-method FOBT. There was no statistical difference between the two methods (P=0.05). The detection rates of quantitative immune FOBT were significantly different among different genders, ages and physical properties (all P<0.001). The detection rate was higher in males than in females (79.14% vs 68.75%). The detection rate was highest in the group between 40 and 59 years old (79.96%). The individual detection rate was higher than the group (90.08% vs 66.07%). The positive rates in primary screening were significantly different among different ages (P=0.001).It was highest in the group aged 60 or above (5.59%). The colonoscopy screening rate in positive population by quantitative immune FOBT was highest in the group aged 50 or above (36.96%). The detection rate of inflammatory lesions were significantly different among different ages (P<0.001). The detection rate of colorectal cancer in males was higher than in females (11.11% vs 0.00%, P=0.009). In addition, with the increasing of fecal occult blood value, the detection rate of cancer was increased (P=0.041). Conclusion The quantitative immune FOBT is an ideal non-invasive examination for early screening of colorectal cancer. It has important application values.

There was a 6-years-old girl who was hospitalized for " four episodes of convulsions within four hours" . On admission, the main manifestations of the patient were unilateral convulsion status, fever and disturbance of consciousness.After improvement of consciousness, physical examination revealed hemiplegia on the convulsive side.Viral encephalitis was considered at admission.However, there were no abnormalities in routine and biochemical examinations of cerebrospinal fluid(CSF), and there were no abnormalities in immune antibodies and pathogen high-throughput sequencing of CSF, which excluded central nervous system infection.According to the craniocerebral magnetic resonance imaging, extensive edema in the right cerebral hemisphere was demonstrated.Diagnosis was considered to be idiopathic hemiconvulsion hemiplegia syndrome(IHHS). The antiepileptic drug was adjusted as phenobarbital, and the seizures were reduced.But one month later, intractable epilepsy occurred, and the final diagnosis was idiopathic hemiconvulsion-hemiplegia-epilepsy syndrome(IHHES). The clinical manifestations were fever, unilateral convulsion status, and disturbance of consciousness.The diagnosis should be combined with CSF examination and imaging characteristics and other considerations.IHHS may develop to IHHES in the later stage.

Tic disorder (TD) is one of the typical neurodevelopmental disorders in childhood.More studies have confirmed that the etiology and pathogenesis of TD are related to genetics, environment, immunology, and psychology, etc.Identifying the etiology and pathogenesis helps to guide the treatment of TD.This paper reviews the research progress in the etiology and pathogenesis of pediatric TD in recent years.

Objective:To establish the normal reference range of neurotransmitters in Han-nationality children aged 3-12 in Hubei province.Methods:A prospective study was conducted on healthy Han-nationality children aged 3-12 who took physical examination in Wuhan Children′s Hospital, Hubei province from January to August 2021.The children were asked for their medical histories, and those with neurological diseases, psychiatric diseases, infection, trauma, and a drug history in the past 2 weeks were excluded.The plasma of 324 children (262 males, 62 females; 217 cases in the 3-7 years old, 107 cases in the 8-12 years old) and urine of 391 children (302 males, 89 females; 266 cases in the 3-7 years old, 125 cases in the 8-12 years old) were collected.They ultra performance liquid chromatography-mass spectrometry multiple techniques (UPLC-MS/MS) were used to detect 10 kinds of neurotransmitters (e.g., dopamine, epinephrine, glutamic acid, etc.) in plasma and 8 kinds of neurotransmitters (e.g., dopamine, epinephrine, 5-hydroxyindoleacetic acid, etc.) in random urine.The normal reference range of neurotransmitters in Han-nationality children aged 3-12 in Hubei province was established.The Kruskal- Wallis H test was made for statistical analysis of the differences in neurotransmitter levels among different age groups and gender groups.The neurotransmitter levels between different groups were compared by the Nemenyi test. Results:There were no significant differences in the levels of various neurotransmitters in children of different genders(all P>0.05). There were significant differences in the levels of dopamine, methoxy-norepinephrine, tryptophan and γ-aminobutyric acid in the plasma of children aged 3-7 years and 8-12 years.There were significant differences in the levels of dopamine, epinephrine, norepinephrine, methoxy-norepinephrine, high vanillic acid and 5-hydroxyindoleacetic acid in the random urine between the 3-7 years old group and the 8-12 years old group. Conclusions:The normal reference range of neurotransmitters in Han-nationality children aged 3-12 in Hubei province is established.This study provides reference for clinical practice and lays a foundation for the study of neurotransmitter-related diseases in children.