Objective To investigate the relationship between thrombin and cerebral edema of hypertensive intracerebral hemorrhage. Methods 65 patients with hypertensive intracerebral hemorrhage were divided into conventional group and minimally invasive group according to treatment methods,two groups were detected the thrombin concentration of peripheral blood in 1st day,3rd day,5th and 7th day and brain CT were scanned to calculate edema and hematoma volume;meanwhile,patients in minimally invasive group were detected the thrombin concentration of hematoma fluid in 1st day ,3rd day ,5th and 7th day. Results The thrombin concentration in peripheral blood of two groups in 3rd day were significantly increased(5.09 ± 1.05) IU/L and(5.10 ±1.04) IU/L respectively,the thrombin concentration in hematoma fluid of minimally invasive group in 3rd day was significantly increased(7.68 ± 1.49) IU/L and there were significant differences between them with those of 1st day ,5 th and 7 th day(P＜0.05) ;the edema ratio of conventional group at 3rd day and 5th day (0. 72 ± 0. 15 and 0. 76 ± 0. 17 respectively) were significantly higher than those of 1 st day and 7 th day, the differences were statistically significant ( P ＜ 0.05 ) ; the edema ratio of minimally invasive group at 3rd day(0. 70 ±0.14) was significantly higher than those of 1st day,5th day and 7th day,the difference was statistically significant(P＜ 0.05) ;the edema ratio of conventional group at 5th day and 7th day were (0.76 ±0. 17) and(0. 52 ±0. 14) respectively which were significantly higher than those of minimally invasive group, the differences were statistically significant (P ＜ 0. 05); linear correlation analysis showed: the thrombin concentration of peripheral blood was positively correlated to the edema ratio( r = 0.689, P ＜ 0.05 ) ;the thrombin concentration of hematoma fluid was also positively correlated to the edema ratio ( r = 0. 653, P＜0.05 ). Conclusion Thrombin could lead to the formation of brain edema after intracerebral hemorrhage,minimally invasive treatment could help to speed up the subside of cerebral edema in late period ( ＞3d)of intracerebral hemorrhage.

The clinical, neuroelectrophysiological, neuropathological characteristics and outcome of a case of acute sensory axonopathy are reported. The patient was a 32-year-old female. She presented with acute onset sensory abnormalities, sensory ataxia, pseudoathetosis and areflex. Lab testing showed cerebrospinal fluid albumin cytologic dissociation. Electromyography studies and sural nerve pathology were consistent with acute sensory axonopathy. Treatment including intravenous immunoglobulin and steroid therapy was provided. Her symptoms recovered slowly without relapse, so did tibial H-reflex amplitudes.

Objective To study the related factors of stress of parents of children with intellectual disabilities and autism. Methods 45 parents of children with intellectual disabilities and 45 with autism were surveyed. Results and Conclusion The stress level was very high in the parents of both 2 kinds of children, especially in the parents with autism children (P<0.01). The stress level of parents of both 2 kinds of children correlated positively with the level of disability, and correlated negatively with the family income.

Objective To investigate the clinical,imaging,intestinal pathological characteristics and prognosis of gluten ataxia (GA).Methods The clinical data,treatment and prognosis in a patient with GA that was confirmed by pathology and hospitalized in the Department of Neurology,China-Japan Friendship Hospital in July 2018,were analyzed retrospectively.The related literature was reviewed and the clinical feature was summarized.Results The patient is a 41-year old man.He suffered from progressive cerebellar ataxia,and the brain magnetic resonance imaging exhibited diffused cerebellar atrophy.Serum human leukocyte antigen (HLA) tests showed that the patient carried HLA-DQ2 genotype.IgA type anti-gliadin antibody was positive (39.39 RU/ml).Duodenoscopy biopsy revealed mild villus atrophy and lymphocytic infiltration,indicating celiac disease.The diagnosis of GA was established then and the patient was administered gluten-free diet combined with intravenous immunoglobulin,which markedly improved the cerebellar symptoms and signs of cerebellar speech,walk capability and daily living activities.He could do long distance driving independently two months later.Conclusions GA is one of immune-mediated reversible acquired cerebellar ataxia caused by gluten sensitivity.The genotype,serologic features,and clinical phenotype of GA in Chinese mainland population might be similar with those in European and American countries.

Objective: To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality. Methods: The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis. Results: A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ²=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%). Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.

OBJECTIVE: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. METHODS: A comprehensive analysis including clinical investigation and genetic testing was carried out. RESULTS: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A. CONCLUSION Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
DNA Mutational Analysis ; Galactosylceramidase ; genetics ; Genetic Testing ; Humans ; Leukodystrophy, Globoid Cell ; complications ; genetics ; Mutation ; Peripheral Nervous System Diseases ; etiology

Objective:To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly.Methods:A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis.Results:In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene.Conclusions:CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.

Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.