ObjectiveAicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.MethodsTo collect a case of patient who presented with convulsions 14 days after birth without obvious inducement. The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening.ResultsSurgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis.ConclusionsThe report of this case will help to improve the clinician's diagnosis and treatment of Aicardi-Goutières syndrome.
Acute aortic dissection is featured as sudden onset and high mortality. Regardless early optimal surgical intervention and strict medical therapy, incidence of late complications is still high. Thus, specific imaging techniques and precise measurement of biomarkers to predict complications are needed. In the present study, we reviewed related papers to compare traditional imaging techniques (computed tomography, echocardiography) and magnetic resonance imaging (MRI) in the diagnosis of chronic aortic dissection. In addition, we discussed how to further evaluate aortic dissection by MRI.
ObjectiveTo analyse the seizure semeiology of MRI negative insular epilepsy.MethodsA case of patient with insular epilepsy who presented in Epileptic Center, Guangdong 999 Brain Hospital was collected. Related literatures were thoroughly reviewed.ResultsThe patient was diagnosised as insular epilepsy by SEEG and postoperative pathology reported focal cortical dysplasia Ib.ConclusionsThe insula lobe is a part of the limbic system, and the seizure semeiology in insular epilepsy is varied. Seizure semeiology analysis is particularly important in the evaluation of presurgical especially in a MRI negative case. In this paper, we summarized the semeiology characteristics of various parts of insula lobe, and provided some references for the diagnosis and treatment of insular epilepsy.
ObjectiveTo detect the metabolites of the serum and joint fluid from rabbits’ osteoarthritis model with 1H nuclear magnetic resonance spectroscopy (NMR) technique, study the metabolic differences and connections of serum, synovial and cartilage of rabbits after the articular cavity injection of sodium hyaluronate, and explore osteoarthritis and metabolic mechanism in the process of treating sodium hyaluronate using sodium hyaluronate, thus provide new ideas and basis of the specific mechanisms in the treatment of osteoarthritis via sodium hyaluronate.MethodsWe selected 30 healthy New Zealand white rabbits, 6 months old, and randomly divided them into three groups as follows: blank control group, model phosphate buffer saline (PBS) liquid injection group and model injection of sodium hyaluronate group, with 10 rabbits in each group. Ten weeks after surgery, all experimental animals were put to death and observed in correlation studies regarding general condition, imaging examination, and histological examination. Metabolites 1H NMR detection and data preprocessing were performed in the serum and joint fluid samples.ResultsThe results considering general condition, general sample observation, imaging examination and histology indicated advantages in sodium hyaluronate group over PBS group. Metabolomics analysis showed statistically significant changes of metabolites in the serum and joint fluid compared with the PBS group and the blank control group (P<0.05). According to the relevant ways of differences metabolites retrieval, analysis found that the effect of sodium hyaluronate on osteoarthritis might be related to protein biosynthesis, amino acid circulation, the metabolic process of pyruvic acid, gluconeogenesis and other metabolic pathways.ConclusionsBased on the research of 1H-NMR metabolomics, the results suggest that the effect of sodium hyaluronate on osteoarthritis is mainly related with the activation of protein metabolism, abnormal lipid and energy metabolic pathways. This study provides new ideas and basis on the concrete mechanism in the treatment of knee osteoarthritis using sodium hyaluronate.
The effect of deep brain stimulation (DBS) surgery treatment for Parkinson's disease is determined by the accuracy of the electrodes placement and localization. The subthalamic nuclei (STN) as the implant target is small and has no clear boundary on the images. In addition, the intra-operative magnetic resonance images (MRI) have such a low resolution that the artifacts of the electrodes impact the observation. The three-dimensional (3D) visualization of STN and other nuclei nearby is able to provide the surgeons with direct and accurate localizing information. In this study, pre- and intra-operative MRIs of the Parkinson's disease patients were used to realize the 3D visualization. After making a co-registration between the high-resolution pre-operative MRIs and the low-resolution intra-operative MRIs, we normalized the MRIs into a standard atlas space. We used a special threshold mask to search the lead trajectories in each axial slice. After checking the location of the electrode contacts with the coronal MRIs of the patients, we reconstructed the whole lead trajectories. Then the STN and other nuclei nearby in the standard atlas space were visualized with the grey images of the standard atlas, accomplishing the lead reconstruction and nerve nuclei visualization near STN of all patients. This study provides intuitive and quantitative information to identify the accuracy of the DBS electrode implantation, which could help decide the post-operative programming setting.
ObjectiveTo make the model of Wistar suckling rats Focal cortical dysplasia (FCD) by liquid nitrogen freezing brain cortex and verify it. Analysed the electroencephalogram (EEG) and magnetic resonance imaging (MRI) features of the FCD model, in order to provide theoretical and experimental basis for human FCD diagnosis and treatment. MethodsTake the first day of Wistar suckling rats as experimental object, liquid nitrogen freezing Wistar suckling rats brain cortex.Make examination of EEG and MRI for Wistar suckling rats. The Brain tissue slice of Wistar suckling rats model dyed by HE and check with light microscope examination. ResultsIn experiment group, the sample epileptic discharge rate of EEG was about 41.6% on average, and showed visible spike wave, spine slow wave frequency distribution. Experimental Wistar suckling rats MRI showed positive performance for long T1 and long T2 signal, brain tissue slices HE staining showed brain cortex layer structure and columnar structure disorder, exist abnormal neurons and the balloon sample cells. ConclusionThe method of liquid nitrogen freezing Wistar suckling rats cortex can established FCDⅢd animal models successfully, and showed specific EEG and MRI, which has important value for diagnosis and treatment of human FCD.
ObjectiveThe purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia (PNH) in a large patient population to better understand social support in people with PNH and epilepsy in west China. Specifically, this study aimed to relate PNH subtypes to clinical or epileptic outcomes and epileptic discharges by analyzing anatomical features. MethodsThe study included 70 patients with radiologically confirmed nodular heterotopias and epilepsy. We also recruited healthy controls from nearby urban and rural areas. People with PNH and epilepsy and healthy controls were gender-and age-matched. Two-sided Chi-square test and Fisher's exact t-test were used to assess associations between the distribution of PNHs and specific clinical features. ResultsBased on imaging data, patients were subdivided into three groups: (a) classical (bilateral frontal and body, n=25), (b) bilateral asymmetrical or posterior (n=9) and (c) unilateral heterotopia (n=36). Most patients with classical heterotopia were females, but were mostly seizure-free. Patients with unilateral heterotopia were prone to develop refractory epilepsy. ConclusionsEach group's distinctive genetic mutations, epileptic discharge patterns and overall clinical outcomes confirm that the proposed classification system is reliable. These findings could not only be an indicator of a more severe morphological and clinical phenotype, but could also have clinical implications with respect to the epilepsy management and optimization of therapeutic options.