Mechanical Thrombectomy for Refractory Cerebral Venous Sinus Thrombosis in a Child with Nephrotic Syndrome : A Case Report

Nephrotic syndrome (NS) is associated with cerebral venous sinus thrombosis (CVST), which is a rare cerebrovascular disorder in children. Systemic anticoagulation with heparin is the standard therapy for CVST, and mechanical thrombectomy (MT) has been described as a salvage treatment for adult anticoagulant refractory CVST, However, it has never been reported in children. We describe a case of MT for refractory CVST in a child with NS. A 13-year-old boy with newly diagnosed NS presented to an emergency department with acute headache. A head computed tomography showed acute thrombus in the superior sagittal sinus, straight sinus and transverse sinus. The child was started on heparin therapy, but clinically deteriorated and became unresponsive. In view of the rapid deterioration of the condition after anticoagulation treatment, the patient received intravascular treatment. Several endovascular technologies, such as stent retriever and large bore suction catheter have been adopted. After endovascular treatment, the patient’s neurological condition was improved within 24 hours, and magnetic resonance venography of the head demonstrated that the CVST was reduced. The child recovered with normal neurological function at discharge. This case highlights the importance of considering MT for refractory CVST, and we suggest that MT may be considered for refractory CVST with NS in children.

Analysis of the disease types of 454 patients with epilepsy in southern Sichuan / 中国医师杂志

Objective To analyze the distribution of disease types of the epilepsy patients in southern Sichuan,and to provide guidances for the clinical diagnosis and treatment of epilepsy.Methods The complete medical records of inpatients with epilepsy in southern Sichuan who were clearly diagnosed in the Affiliated Hospital of Southwest Medical University from August 2014 to July 2017 were collected and sorted,and classified according to the latest revision of the epilepsy disease standard of the International AntiEpilepsy Alliance in 2017,and the distribution of disease types of these patients were statistically analyzed.Results A total of 454 patients with epilepsy were included in the study,with a male to female ratio of 1.54∶ 1,and the average age is (39.38 ±22.38) years.There were 71 patients under 15 years old,139 cases from 15 years old to 40 years old,189 cases from 41 years old to 65 years old,and 55 cases from over 65 years old.The patients in all ages were mainly classified as generalized onset,and the patients with different origins were mainly motor seizures.The focal onset were most common in the patients with epileptiform spasm from 40 days to 14 years old.The patients of generalized onset were mostly tonic-clonic seizures and under 65 years old.And the patients of unknown onset were mainly concentrated in 15-65 years old and mainly epileptic spasms.Conclusions Most of the patients with epilepsy in southern Sichuan are middle-aged and elderly,and the patients of all ages of different origins are mainly motor seizure,and the distribution of disease types of these patients are different.Moreover,the tonic-clonic seizure and epileptiform spasm are the most common types in these patients.

The etiology analysis of 665 hospitalized patients with epilepsy in Southern Sichuan / 中华神经科杂志

Objective To investigate the distribution of the general etiology of hospitalized patients with epilepsy in Southwest China and the etiological distribution of epilepsy patients of different ages.Methods The complete medical records of hospitalized patients with epilepsy diagnosed in our hospital from August 2014 to July 2017 were collected,the overall cause of the disease was classified,and the etiology distribution of different age groups was analyzed.Results A total of 665 eligible patients were enrolled.The overall etiology of epilepsy was structural (398/665,59.8％),infectious (122/665,18.3％) and metabolic (12/665,1.8％).The etiological and genetic causes were rare.Childhood and adolescent epilepsies were mainly due to unknown,viral infection,intracranial vascular malformations and cortical development disorders.As for etiology in adults,traumatic brain injury accounted for 18.0％ (68/380),cerebral hemorrhage accounted for 18.7％ (71/380),and brain tumors accounted for 17.1％ (65/380).Elderly patients with epilepsy accounted for 59.6％ (106/178) of stroke and other cerebrovascular diseases,followed by traumatic brain injury (17/178,9.6％) and neoplastic disease (17/178,9.6％).Conclusions The etiology of hospitalized epilepsy patients in Southern Sichuan is mainly structural lesions.And cerebrovascular disease,intracranial infection,brain trauma and tumor are the most common etiologies,but there are different etiologies at different ages.

Correlation between C-reactive protein at admission and severity and early outcome of acute ischemic stroke / 国际脑血管病杂志

Objective To investigate the correlation between C-reactive protein (CRP) level at admission and severity and early outcome of acute ischemic stroke.Methods Inpatients with acute ischemic stroke were enrolled retrospectively.The demographic and clinical data were collected.The National Institutes of Health Stroke Scale (NIHSS) at admission was used to evaluate the neurologic deficits,≤8 was defined as a mild stroke and ＞ 8 was defined as a severe stroke.The modified Rankin scale was used to evaluate the outcomes at discharge,0-2 was defined as good outcome and ＞ 2 was defined as poor outcome.Multivariate logistic regression analysis was used to determine the independent influencing factors of severity and early outcome of acute ischemic stroke.Results A total of 120 patients with acute ischemic stroke were enrolled in the study.Their mean age was 63.35 ± 11.51 years,71 (59.17％) were males;81 had mild stroke (67.5％),39 (32.5％) had moderate to severe stroke;71 (59.17％) had good outcome,and 49 (40.83％) had poor outcome.There were significant differences in the age,CRP level,and proportions of ischemic heart disease,atrial fibrillation,smoking,and drinking between the mild stroke group and the moderate to severe stroke group (all P ＜0.05).Multivariate logistic regression analysis showed that ischemic heart disease (odds ratio [OR] 4.407,95％ confidence interval [CI] 1.100-17.653;P=0.036),atrial fibrillation (OR 6.603,95％ CI 1.190-36.635;P =0.031) and CRP (OR 1.022,95％ CI 1.001-1.043;P =0.041)were independently and positively correlated with the severity of stroke.There were significant differences in baseline NIHSS score,fibrinogen and CRP level,as well as the proportions of the patients with atrial fibrillation,smoking,and drinking between the good outcome group and the poor outcome group (all P ＜0.05).Multivariate logistic regression analysis showed that smoking (OR 8.895,95％ CI 1.699-46.557;P=0.010),baseline NIHSS score (OR 2.241,95％ CI 1.567-3.206;P ＜0.001),and CRP (OR 1.195,95％ CI 1.030-1.386;P =0.019) were independently correlated with the early poor outcomes.Conclusion CRP level at admission was the independent influencing factor of severity and early outcome of acute ischemic stroke.

A novel mutation in CACNA1A associated with familial hemiplegic migraine / 中华检验医学杂志

Objective To identify mutations of CACNA1A gene in a family with hemiplegic migraine.Methods Total genomic DNA was extracted from a family with 3 affected members and 1 000 healthy controls.The proband and his patient sister were subjected to exome sequencing.Ten family members including 3 patients were subjected to linkage analysis.The coding exons of the CACNA1A gene were amplified and sequenced in affected and normal individuals. Bioinformatics analysis were performed.Results A novel CACNA1A mutation was identified in the 3 patients.The nonsense mutation of A to G was detected at nucleotide 1168 ( c.1168A >G) which converted the Asn codon ( AAT) to Asp (GAT) in exon 8.Conclusion The mutation(N390D) detected in the present study is considered to result in the Chinese Hemiplegic migraine family.

Study on novel mutation of CACNA1A gene in familial hemiplegic migraine / 重庆医学

Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .

Ultrastructural changes of focal tissue in cerebral cortex of disorders of cortical development in rats / 第三军医大学学报

Objective To study the pathological characteristics of disorders of cortical development(DCDs) and to analyze the relationship between the characteristics and epileptogenesis.Methods A total of 9 newborn healthy male Wistar rats were randomly divided into three groups including freeze-lesioned,sham-operated and normal groups.The disorders of cortical development model was established by liquid nitrogen lesion.All rats in the three groups were raised for 16 to 18 weeks after operation,then the focal cerebral tissues were taken and observed by transmission electron microscope(TEM) as well as histochemistry(HE and Nissl stain).Results Seizures did not occur in normal rats or sham-operated rats,while in freeze-lesioned rats besides seizures by chance,the main display was more activities,exciting,restlessness,and frequent action of face-wash.EEG of freeze-lesioned rats showed no typical sharp waves,or spikes.All freeze-lesioned rats displayed typical cortical malformation——a longitudinal microgyrus.The electron microscopic examination showed mitochondrial lesions,abnormal neuropil and endoplasmic reticulum expand in neurons and myelinoclasis in neurogliocytes.The changes were more severe around microgyria.Conclusion DCDs lead to main lesion around microgyrus.These changes could be one of mechanisms in an intrinsic epileptogenicity of cortical dysplasias from the pathological characteristics by electron microscopy.

Expression of GABAAR?1 subunit in cortical region and hippocampal formation of rats with radiation-induced diffuse cortical dysplasia / 重庆医科大学学报

Objective:To correlate diffuse cortical dysplasia(DCD) epileptogenicity and the expression of GABAAR?1 in adult rat with DCD by ?-ray irradiated injury.Methods:To establish ?-ray-induced model of DCD in rat,and newborn Wistar rats were allowed to survive for 14~16 weeks before HE,Nissl Stain,Timm's histochemical method and SABC immunohistochemistry.We observed the structure of cortical regions and hippocampal formation with naked eyes and under a light microscope,and assessed the hippocampal mossy fiber sprouting after HE staining,Nissl staining and Timm's histochemical method.The comparisons between every two groups were performed with Nemenyi test.We observed the expression of GABAAR?1 subunit in cortical regions and hippocampal formation in the animal model and quantitatively analyzed using immunohistochemistry of GABAAR?1 subunit.Results:Normal rats and irradiated pregnant rats didn't have any seizure.F1 generation rats had seizure by chance.EEG showed no typical sharp waves,or spikes.In utero irradiation of fetal rats had served as an injury-based animal model of cortical dysplasia and neuronal heterotopia.Exposure of fetal rats to a single dose of ?-irradiation on embryonic day 17 resulted in microcephaly,diffuse cortical dysplasia,neuronal heterotopia,heterotopic neurons in the hippocampus,and hypoplasia of the corpus callosum.The mossy fiber sprouted in hippocampi CA3 area bilaterally,however there was no mossy fiber sprouting in controls or irradiated rats(P