Recognition of seizure semiology and semiquantitative FDG-PET analysis of anti-LGI1 encephalitis.

AIMS: Anti-leucine-rich glioma-inactivated 1 (LGI1) autoimmune encephalitis (AE) is characterized by complex manifestations of seizures. Here, we report a new seizure semiology, attempt to classify the disease by semiology type, and explore the metabolic pattern of each group. METHODS: Anti-LGI1 AE patients were retrospectively screened between May 2014 and September 2019 in our tertiary epilepsy center. All enrolled patients had seizures during long-range video electroencephalogram (EEG) recordings, and all patients (except one) underwent [18 F] fluoro-2-deoxyglucose (FDG) positron emission tomography (PET) scans. Voxel-based metabolic analysis and z-distribution analysis were carried out to determine the metabolic pattern. RESULTS: Thirty-three patients were enrolled. According to the patients' seizure semiology, we divided the patients into four groups: focal impaired awareness seizures (FIAS, n = 17), faciobrachial dystonic seizures (FBDS)-only (n = 6), FBDS-plus (n = 8), and focal aware motor seizures (FAMS) (n = 2). No significant differences were found in the clinical manifestations or accessory tests except for the onset age (FIAS < FBDS-plus) and seizure semiology. This was the first study to extensively describe the clinical manifestations and EEG of FAMS in anti-LGI1 AE patients. In addition, we found that the patients with different semiologies all showed a wide range of abnormal metabolism, which is not limited to the temporal regions and basal ganglia, and extends far beyond our previous interpretation of FDG-PET data. CONCLUSION: Our results showed that FAMS can serve as a rare indicative seizure semiology of anti-LGI1 AE and that individuals with this disease exhibited widespread functional network alterations.

Clinical Characteristics and Long-Term Prognosis of Anti-LGI1 Encephalitis: A Single-Center Cohort Study in Beijing, China.

Background: This study aimed to analyze the clinical characteristics of anti-leucine-rich glioma-inactivated protein 1 (LGI1) encephalitis patients and investigate prognostic factors by using a large-sample and long-term follow-up cohort. Methods: The clinical data of 45 patients (29 males; mean age, 57.0 years) from May 2014 to August 2019 were collected. All patients were followed up by face-to-face interviews in the third month after discharge and then by telephone and/or face-to-face interviews every 6 months until November 2020. We evaluated each patient's response to the initial treatments at the first interview and divided them into "responders" and "nonresponders." Relapses were recorded. At the end of follow-up, each patient was evaluated and reclassified into "complete recovery" or "unhealed" groups. Intergroup differences were assessed. Results: All patients presented with seizures at the initial consultation. Other common manifestations included cognitive dysfunction (82.2%), psychiatric disturbance (66.7%), sleep disorder (54.5%), and hyponatremia (66.7%). During the follow-up period (32.8 ± 13.5 months), six patients experienced relapse within 6-37 months. We observed that the patients who did not respond to the initial treatments and those who relapsed all had a poor long-term prognosis. The patients in the "unhealed" group were older (p = 0.009), had a lower incidence of generalized tonic-clonic seizures (p = 0.041), and had a higher probability of cerebrospinal fluid (CSF) abnormalities (p = 0.024) than those in the "complete recovery" group. Conclusion: Anti-LGI1 encephalitis was characterized by seizures, cognitive impairment, psychiatric disturbance, and sleep disorders and was often accompanied by hyponatremia. Patients who responded poorly to the initial treatments and those patients who relapsed had dismal long-term prognoses. Advanced age and CSF abnormalities may be risk factors for poor prognosis, but these still need to be verified.

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST-1 patients in mainland China. METHODS: We reported in detail the cases of five Chinese ST-1 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients. RESULTS: A total of 77 genetically confirmed ST-1 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0 ± 6.7 years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8 ± 2.7 years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%-100%). Cherry-red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%-90.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A > G mutation (75% and 100%, respectively) than the patients from other regions (only 0%-10.0%). Approximately 50% of Chinese mainland patients carried the c.239C > T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal, 18 F-FDG-PET analysis could reveal cerebellar and occipital lobe hypometabolism. INTERPRETATION: ST-1 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.

Intravenous methylprednisolone or immunoglobulin for anti-glutamic acid decarboxylase 65 antibody autoimmune encephalitis: which is better?

BACKGROUND: Patients positive for anti-glutamic acid decarboxylase 65 (GAD65) antibodies have attracted increasing attention. Their clinical manifestations are highly heterogeneous and can be comorbid with tumors. Currently, there is no consensus on the therapeutic regimen for anti-GAD65-associated neurological diseases due to the clinical complexity, rarity and sporadic distribution. We reported six anti-GAD65 autoimmune encephalitis (AE) patients who received intravenous methylprednisolone (IVMP) or immunoglobulin (IVIG) or both. Then, we evaluated the therapeutic effect of both by summarizing results in previous anti-GAD65 AE patients from 70 published references. RESULTS: Our six patients all achieved clinical improvements in the short term. Unfortunately, there was no significant difference between IVMP and IVIG in terms of therapeutic response according to the previous references, and the effectiveness of IVMP and IVIG was 45.56% and 36.71%, respectively. We further divided the patients into different subgroups according to their prominent clinical manifestations. The response rates of IVMP and IVIG were 42.65% and 32.69%, respectively, in epilepsy patients; 60.00% and 77.78%, respectively, in patients with stiff-person syndrome; and 28.57% and 55.56%, respectively, in cerebellar ataxia patients. Among 29 anti-GAD65 AE patients with tumors, the response rates of IVMP and IVIG were 29.41% and 42.11%, respectively. There was no significant difference in effectiveness between the two regimens among the different subgroups. CONCLUSION: Except for stiff-person syndrome, we found that this kind of AE generally has a poor response to IVMP or IVIG. Larger prospective studies enrolling large numbers of patients are required to identify the optimal therapeutic strategy in the future.

Erratum: Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene.

[This corrects the article DOI: 10.3389/fneur.2019.00347.].

Semi-quantitative FDG-PET Analysis Increases the Sensitivity Compared With Visual Analysis in the Diagnosis of Autoimmune Encephalitis.

Objective: The purpose of this study is to evaluate the potential diagnostic benefit of SPM-based semi-quantitative FDG-PET analysis in autoimmune encephalitis (AE) compared with visual analysis by experienced neuroradiologists using a larger sample size. Methods: This observational retrospective case series study was conducted from a tertiary epilepsy center between May 2014 and March 2017. Healthy individuals without any neurologic or psychiatric diseases were recruited as control. We determined brain FDG-PET abnormal glucose metabolism on medial temporal lobe and basal ganglia using semi-quantitative analysis and compared this method with visual analysis at the same time among patients with autoantibody positive AE. Results: Twenty-eight patients with clinically diagnosed AE and 53 healthy individuals without any neurologic or psychiatric diseases were recruited. On the medial temporal lobe and the basal ganglia, semi-quantitative analysis showed consistency with the visual assessment for whom they had abnormal metabolism by visual assessment. More importantly, 56% patients on medial temporal lobe and 73% patients on the basal ganglia respectively who were not identified by visual inspection can be detected by semi-quantitative analysis, demonstrating the greater sensitivity of semi-quantitative analysis compared with visual assessment. Significance: This study showed semi-quantitative brain FDG-PET analysis was better than visual analysis in view of observing the abnormal glucose metabolism of patients with autoantibody positive AE. Semi-quantitative FDG-PET analysis appears to be a helpful tool in early diagnosis of patients with AE.

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene.

Leigh syndrome (LS) is a mitochondrial disease of infancy and early childhood, that is rarely seen in adults. The high degree of genetic and clinical heterogeneity makes LS a very complex syndrome. The clinical manifestations include neurological symptoms and various non-neurological symptoms, with different mutations differing in presentations and therapies. The m.10191T>C mutation in the mitochondrial DNA gene encoding in the respiratory chain complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction and causing a broad clinical spectrum of disorders that includes LS. Patients with the m.10191T>C mutation are rare in general, even more so in adults. In the present study, we report a family of patients with very rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. The 24-year-old proband presented with seizures 6 years ago and developed refractory status epilepticus on admission. She had acute encephalopathy accompanied by lactic acidosis, symmetrical putamen and scattered cortical lesions. The video electroencephalogram suggested focal-onset seizures. She harbored the heteroplasmic m.10191T>C mutation in her blood and fibroblasts. Her aunt was diagnosed with mitochondrial disease at the age of 42, and had the heteroplasmic m.10191T>C mutation in her fibroblasts. Her aunt's son (cousin) died of respiratory failure at the age of 8, and we suspected he was also a case of LS. Furthermore, we reviewed the previously reported patients with the m.10191T>C mutation and summarized their characteristics. Recognizing the characteristics of these patients will help us improve the clinical understanding of LS or Leigh-like syndrome.

Correlation between tumor necrosis factor alpha mRNA and microRNA-155 expression in rat models and patients with temporal lobe epilepsy.

Accumulative evidence demonstrates that there is an inseparable connection between inflammation and temporal lobe epilepsy (TLE). Some recent studies have found that the multifunctional microRNA-155 (miR-155) is a key regulator in controlling the neuroinflammatory response of TLE rodent animals and patients. The aim of the present study was to investigate the dynamic expression pattern of tumor necrosis factor alpha (TNF-α) as a pro-inflammatory cytokine and miR-155 as a posttranscriptional inflammation-related miRNA in the hippocampus of TLE rat models and patients. We performed real-time quantitative PCR (qRT-PCR) on the rat hippocampus 2 h, 7 days, 21 days and 60 days following kainic acid-induced status epilepticus (SE) and on hippocampi obtained from TLE patients and normal controls. To further characterize the relationship between TNF-α and miR-155, we examined the effect of antagonizing miR-155 on TNF-α secretion using its antagomir. Here, we found that TNF-α secretion and miR-155 expression levels were correlated after SE. The expression of TNF-α reached peak levels in the acute phase (2h post-SE) of seizure and then gradually decreased; however, it rose again in the chronic phase (60 days post-SE). miR-155 expression started to increase 2 h post-SE, reached peak levels in the latent phase (7 days post-SE) of seizure and then gradually decreased. The variation in the trend of miR-155 lagged behind that of TNF-α. In patients with TLE, the expression levels of both TNF-α and miR-155 were also significantly increased. Furthermore, antagonizing miR-155 inhibited the production of TNF-α in the hippocampal tissues of TLE rat models. Our findings demonstrate a critical role for miR-155 in the physiological regulation of the TNF-α pro-inflammatory response and elucidate the role of neuroinflammation in the pathogenesis of TLE. Therefore, regulation of the miR-155/TNF-α axis may be a new therapeutic target for TLE.

The role of the microRNA-146a/complement factor H/interleukin-1ß-mediated inflammatory loop circuit in the perpetuate inflammation of chronic temporal lobe epilepsy.

Increasing evidence indicates that neuroinflammation plays a crucial role in the pathogenesis of temporal lobe epilepsy (TLE). However, it is unclear how the perpetuate inflammation develops. Some recent studies have suggested the possible involvement of microRNA-146a (miR-146a) in the modulation of inflammatory signaling occurring in TLE. To understand how miR-146a modulates inflammatory signaling in TLE, we investigated the role of interleukin-1ß (IL-1ß), miR-146a and human complement factor H (CFH) in the perpetuate inflammation in rat models of chronic TLE and U251 cells. We found that enhancive miR-146a could upregulate the expression of IL-1ß and downregulate the expression of CFH, whereas reductive miR-146a could downregulate the expression of IL-1ß and upregulate the expression of CFH, in hippocampi of chronic TLE rat models. Meanwhile, enhancive miR-146a could increase the abnormal wave forms in the chronic TLE rat models. Additionally, enhancive IL-1ß could feedback downregulate the expression of CFH, upregulate the expression of miR-146a and increase the abnormal wave forms in chronic TLE rat models. After CFH gene knockdown in U251 cells, enhancive miR-146a did not upregulate the expression of IL-1ß. In summary, this study shows that enhancive miR-146a can upregulate the inflammatory factor IL-1ß in chronic TLE by downregulating CFH, and that upregulation of IL-1ß plays an important feedback-regulating role in the expression of miR-146a and CFH, forming a miR-146a-CFH-IL-1ß loop circuit that initiates a cascade of inflammation and then leads to the perpetuate inflammation in TLE. Therefore, modulation of the miR-146a-CFH-IL-1ß loop circuit could be a novel therapeutic target for TLE.

Seizure semiology: an important clinical clue to the diagnosis of autoimmune epilepsy.

Objective: The purpose of this study is to analyze the seizure semiologic characteristics of patients with autoimmune epilepsy (AE) and describe the investigation characteristics of AE using a larger sample size. Methods: This observational retrospective case series study was conducted from a tertiary epilepsy center between May 2014 and March 2017. Cases of new-onset seizures were selected based on laboratory evidence of autoimmunity. At the same time, typical mesial temporal lobe epilepsy (MTLE) patients with hippocampal sclerosis (HS) were recruited as the control group from the subjects who underwent presurgical evaluation during the same period. Results: A total of 61 patients with AE were identified. Specific autoimmune antibodies were detected in 39 patients (63.93%), including anti-VGKC in 23 patients (37.70%), anti-NMDA-R in 9 patients (14.75%), anti-GABAB-R in 6 patients (9.84%), and anti-amphiphysin in 1 patient (1.64%). Regarding the seizure semiology, no significant differences were noted between AE patients with autoantibody and patients with suspected AE without antibody. Compared to typical MTLE patients with HS, both AE patients with autoantibody and patients with suspected AE without antibody had the same seizure semiologic characteristics, including more frequent SPS or CPS, shorter seizure duration, rare postictal confusion, and common sleeping SGTC seizures. Significance: This study highlights important seizure semiologic characteristics of AE. Patients with autoimmune epilepsy had special seizure semiologic characteristics. For patients with autoimmune epilepsy presenting with new-onset seizures in isolation or with a seizure-predominant neurological disorder, the special seizure semiologic characteristics may remind us to test neuronal nuclear/cytoplasmic antibodies early and initiate immunomodulatory therapies as soon as possible. Furthermore, the absence of neural-specific autoantibodies does not rule out AE.

Status epilepticus-related etiology, incidence and mortality: A meta-analysis.

Status epilepticus (SE) is a severe medical condition. To determine its epidemiology and outcome of SE, we performed a meta-analysis to investigate the etiology, incidence and mortality of SE. We searched PubMed and Embase between Jan 1, 2000, and Oct 31, 2016, with no regional restrictions, for observational studies of the etiology, incidence and mortality of SE. Forty-three studies were included in the meta-analysis. The pooled crude annual incidence rate, the pooled case fatality rate and the pooled crude annual mortality rate of SE were 12.6/100,000 (95% CI: 10.0-15.3), 14.9% (95% CI: 11.7-118.7) and 0.98/100,000 (95% CI: 0.74-1.22), respectively. Elderly subjects with SE had a higher case fatality rate (28.4% (95% CI: 17.7-42.3)) and crude annual incidence rate (27.1% (95% CI: 15.8-38.2)). The most important etiology-specific attributable fraction of patients with SE was acute symptomatic etiology (OR 0.411, 95% CI: 0.315-0.507). Age and economic income contributed to differences in SE incidence and short-term case fatality rate.

Significance of MDR1 gene C3435T polymorphism in predicting childhood refractory epilepsy.

The association between the MDR1 gene C3435T polymorphism and childhood intractable epilepsy remains controversial. In this study, we performed a meta-analysis to clarify this issue. We searched the PubMed, Medline, Embase and CNKI databases for studies published through October 2016 that evaluated the association between the MDR1 C3435T polymorphism and childhood refractory epilepsy. Eleven studies involving 863 cases in the group with drug-resistant epilepsy and 915 cases in the group with drug-responsive epilepsy were included in this systematic review and meta-analysis. The analysis showed that there was not a significant association of the MDR1 C3435T polymorphism overall with risk of drug-resistance. But the allelic association of MDR1 C3435T and the association of the MDR1 3435 CC genotype with risk of drug-resistance were significant among European population and a '>2010' group based on publication year subgroup analysis. The relationship between the MDR1 C3435T polymorphism and childhood refractory epilepsy needs further validation.

Circular RNA: a new star in neurological diseases.

Circular RNAs (circRNAs) are novel endogenous non-coding RNAs characterized by the presence of a covalent bond linking the 3' and 5' ends generated by backsplicing. In this review, we summarize a number of the latest theories regarding the biogenesis, properties and functions of circRNAs. Specifically, we focus on the advancing characteristics and functions of circRNAs in the brain and neurological diseases. CircRNAs exhibit the characteristics of species conservation, abundance and tissue/developmental-stage-specific expression in the brain. We also describe the relationship between circRNAs and several neurological diseases and highlight their functions in neurological diseases.

Inhibition of myocyte-specific enhancer factor 2A improved diabetic cardiac fibrosis partially by regulating endothelial-to-mesenchymal transition.

Cardiac fibrosis is an important pathological process of diabetic cardiomyopathy, the underlying mechanism remains elusive. This study sought to identify whether inhibition of Myocyte enhancer factor 2A (MEF2A) alleviates cardiac fibrosis by partially regulating Endothelial-to-mesenchymal transition (EndMT). We induced type 1 diabetes mellitus using the toxin streptozotocin (STZ) in mice and injected with lentivirus-mediated short-hairpin RNA (shRNA) in myocardium to inhibit MEF2A expression. Protein expression, histological and functional parameters were examined twenty-one weeks post-STZ injection. We found that Diabetes mellitus increased cardiac MEF2A expression, aggravated cardiac dysfunction and myocardial fibrosis through the accumulation of fibroblasts via EndMT. All of these features were abolished by MEF2A inhibition. MEF2A gene silencing by shRNA in cultured human umbilical vein endothelial cells (HUVECs) ameliorated high glucose-induced phenotypic transition and acquisition of mesenchymal markers through interaction with p38MAPK and Smad2. We conclude that inhibition of endothelial cell-derived MEF2A might be beneficial in the prevention of diabetes mellitus-induced cardiac fibrosis by partially inhibiting EndMT through interaction with p38MAPK and Smad2.

An early warning scoring system for the prevention of acute heart failure.

BACKGROUND: Early prediction and identification of the onset of acute heart failure (AHF) in high-risk patients are of great significance for preemptive treatment and a better prognosis. We sought to find a scoring system to predict the onset of AHF in patients in the acute heart failure unit (AHFU). METHODS: Data for 433 patients at of AHF in the AHFU were analyzed. We recorded sex, age, history of coronary artery disease, hypertension, diabetes, and primary percutaneous coronary intervention. We also reviewed temperature, pulse, SpO2, respiratory rate, urine volume, and emotional state every hour before the onset of AHF. All admission and follow-up data were retrieved from hospital charts. Factors were analyzed using a binary logistic regression model to create the SUPER (SpO2, urine volume, pulse, emotional state, and respiratory rate) scoring model. We divided the scoring system into four levels: low-, intermediate-, high-, and extremely high-risk. Patients fitting the four risk levels were followed up for 6 to 24 months. RESULTS: SpO2, hourly urine volume, pulse, emotional state and respiratory rates were associated with an independent increased risk for the onset of AHF. The SUPER score for the patients in the AHFU predicted the onset of AHF 3.90 ± 1.94 h (1-17 h) earlier. The areas under the ROC curve for the SUPER score and the modified early warning score were 0.811 and 0.662 (p<0.05), indicating that the SUPER score provided a better warning of the AHF. A low-, intermediate-, high-, and very high-risk SUPER predicted the likelihood of AHF at 17.3%, 61.3%, 84.4%, and 94.0%, respectively. The differences in mortality rates between the four levels were statistically significant (p<0.05). CONCLUSIONS: In patients at high risk of AHF, the SUPER scoring system could predict the onset of AHF 2 to 6h earlier. Preemptive treatment according to the SUPER score may prevent or delay AHF occurrence to improve quality of life and reduce mortality.

Temporal lobe epilepsy with amygdala enlargement: a subtype of temporal lobe epilepsy.

BACKGROUND: Some recent studies suggest that some imaging-negative temporal lobe epilepsy (TLE) had significant amygdala enlargement (AE). Contradictory data were also reported in previous studies regarding the association between AE and TLE. The present study was to investigate the clinical characters of a group of TLE with AE and compare the amygdala volume of the same patient before and after antiepileptic drugs treatment by a larger sample size. METHODS: This study recruited 33 mesial TLE patients with AE and 35 healthy volunteers. The clinical history, seizure semiology, electroencephalogram (EEG), fluorodeoxyglucose-positron emission tomography (FDG-PET) and amygdala volume were investigated. The amygdala volume were compared between ipsilateral and contralateral sides, TLE patients and 35 healthy controls, and patients at first and follow-up visit by 3.0 T MRI. RESULTS: Average seizure onset age was 42.0 years (SD 14.3). All patients had complex partial seizures, fourteen had occasional generalized tonic-clonic seizures which often happened during sleep. Ninety percent patients suffered from anxiety or depression. Thirty percent patients had memory decline. Interictal epileptiform discharges appeared predominantly in the anterior or inferior temporal area ipsilateral to AE. Interictal FDG-PET showed regional glucose hypometabolism in the ipsilateral temporal lobe. No hippocampal sclerosis (HS) was suspected in all patients. 22 patients demonstrated good seizure control and significantly reduced volume of the enlarged amygdala after treatment (P < 0.01). The other 11 patients showed initial response to treatment, followed by a gradual increase in seizure frequency over time, and no volume change of the enlarged amygdala after treatment. CONCLUSIONS: TLE with AE probably represents a distinct nosological and probably less homogeneous syndrome which is most likely a subtype of TLE without ipsilateral HS. The chronic and long lasting inflammatory processes or focal cortical dysplasia could lead to amygdala enlargement possibly.

Seizure semiology and electroencephalography in young children with lesional temporal lobe epilepsy.

PURPOSE: This study aimed to discuss the clinical features of seizure semiology and electroencephalography (EEG) in young children with lesional temporal lobe epilepsy (TLE). METHOD: Children with lesional TLE received presurgical evaluation for intractable epilepsy. They were followed up for more than one year after temporal lobectomy. We reviewed the medical history and video-EEG monitoring of children with TLE to analyze the semiology of seizures and EEG findings and compared the semiology of seizures and EEG findings of childhood TLE and adult TLE. RESULTS: A total of 84 seizures were analyzed in 11 children (aged 23-108 months). The age of seizure onset was from 1 month to 26 months (a mean of 17.6 months). All of the patients exhibited prominent motor manifestations including epileptic spasm, tonic seizure, and unilateral clonic seizure. Seven children manifested behavioral arrest similar to an automotor seizure in adult TLE but with a shorter duration and higher frequency. The automatisms were typically orofacial, whereas manual automatisms were rarely observed. The EEG recordings revealed that diffuse discharge patterns were more common in younger children, whereas focal or unilateral patterns were more typical in older children. All of the patients were seizure-free after temporal lobectomy with more than one-year follow-up. All of the children had a mental development delay or regression; however, there was improvement after surgery, especially in those with surgery performed early. CONCLUSION: In contrast to TLE in adults, young children with lesional TLE probably represent a distinct nosological and probably less homogeneous syndrome. Although they had generalized clinical and electrographic features, resective epilepsy surgery should be considered as early as possible to obtain seizure control and improvement in mental development.

Somatosensory reflex seizures in a patient with hypertrophic cranial pachymeningitis.

Somatosensory-evoked reflex epilepsy is characterized by seizures in response to specific stimuli. It is highly uncommon for somatosensory-evoked focal seizures to be caused by movement or a change in posture. Reflex epilepsy induced by both somatosensory and proprioceptive stimulations has not been previously reported. In this study, we present a case of reflex epilepsy evoked by somatosensory and proprioceptive stimulation in a patient with hypertrophic cranial pachymeningitis. After comparing our patient with other cases of previously reported somatosensory-evoked reflex epilepsy, we determined that our patient had an unusual cause of reflex epilepsy.

Role of aldehyde dehydrogenase 2 Glu504lys polymorphism in acute coronary syndrome.

This study aimed to investigate the association of the aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism, which exists in 30-50% of East Asians, and risk of acute coronary syndrome (ACS). We enrolled 1092 unrelated Han Chinese, including 546 with ACS and 546 age- and sex-matched controls. Subjects with ALDH2 mutant genotypes showed significantly higher ACS than did controls (46.7% versus 31.9%, P < 0.001). Logistic regression analysis revealed the ALDH2 mutant independently associated with ACS (odds ratio [OR] 1.95, 95% confidence interval [CI]: 1.31-2.92, P = 0.001), but the association was weaker on adjusting for alcohol consumption (OR 1.82, 95% CI: 1.23-2.70, P = 0.003). Similar results were found in a subgroup analysis of patients with primary ST-segment elevation myocardial infarction (STEMI). The ALDH2 mutant was significantly associated with level of high-sensitivity C-reactive protein (hs-CRP) in patients with ACS (P = 0.002) and in controls (P = 0.009) and number of circulating endothelial progenitor cells (EPCs) (P = 0.032); furthermore, inclusion of hs-CRP level and EPCs number as independent variables in regression analysis reduced the importance of ALDH2 polymorphism in ACS or primary STEMI. However, ALDH2 polymorphism was not associated with number of coronary arteries with significant stenosis, Gensini score or flow-mediated dilation of the brachial artery. Our results suggest that ALDH2 mutation is a genetic risk marker for ACS, which is explained in part by alcohol consumption, inflammation and number of circulating EPCs.