Objective:To explore the clinical characteristics and therapeutic effect of perioral myoclonia with absences (PMA), in order to improve the clinicians′ understanding of the disease.Methods:The clinical manifestations during seizures, as well as interictal and ictal electroencephalogram (EEG) features of 3 PMA patients admitted to the Epilepsy Unit, Neurology Center, Beijing Tiantan Hospital, Capital Medical University from May to October 2024 were analyzed. The clinical manifestations, EEG characteristics, differential diagnosis, treatment experience of PMA patients were summarized by retrospective analysis combined with previous literature review.Results:The onset age of these 3 PMA cases was 15, 15, and 7 years, respectively. The prominent manifestation of seizure was perioral myoclonus without disturbance of consciousness. The duration of seizures was brief, less than 10 seconds. PMA can occur several times a day and was prone to present as continuous state of perioral myoclonus. Three patients had rare generalized tonic-clonic seizures (GTCS). The seizures could be controlled by sodium valproate, lamotrigine, levetiracetam, or combined treatment. Fifteen literatures about PMA were retrieved (4 in Chinese and 11 in English). A total of 31 patients (including these 3 patients) were included in the study, of whom 17 were males and 14 were females. The onset age was from 9 months to 34 [7.63 (2.19, 11.00)] years. Perioral myoclonus with varying degrees of disturbance of consciousness was the main seizure type, and 12 patients exhibited continuous state of perioral myoclonus, 24 patients had GTCS. Eight patients had a history of fever convulsion, 6 patients had mental or learning disabilities, and 11 patients had a family history of epilepsy or febrile convulsion. The ictal EEG showed around 3 Hz generalized spike-wave/multiple spike-wave discharges accompanied with synchronous myoelectric bursts. There were no specific abnormalities in physical examination of nervous system and cranial imaging in all the patients. Ten patients were initially diagnosed as focal epilepsy. Nine patients′ seizures were increased or worsened due to improper medication. Valproate, lamotrigine and levetiracetam were the main treatments of PMA, and the seizures of 21 patients were effectively controlled.Conclusions:PMA is clinically characterized by perioral myoclonia with varying degrees of disturbance of consciousness and is easy to be misdiagnosed as focal epilepsy, so it is necessary to use video EEG combined with synchronous electromyography to confirm the diagnosis. PMA should be treated with broad-spectrum antiseizure drugs.

Botulinum toxin A (BTA), a kind of botulinum exotoxin, which may cause muscular paralysis by the impact of chemical denervation, is commonly utilized in ophthalmology, dermatology, and medical plastic surgery.In the field of ophthalmology, it was first employed to address infantile esotropia, acute concomitant esotropia, nerve paralytic strabismus, and other kinds of strabismus.In recent years, some ophthalmologists have attempted to use BTA to correct partial accommodative esotropia, restrictive strabismus and exotropia, and found that BTA may be used as an alternate approach for extraocular muscles surgery in specific forms of strabismus, such as acute concomitant esotropia, partial accommodative esotropia and infantile esotropia (≤30 prism diopter), and can enhance the effect of surgical correction in the correction of large-angle infantile esotropia and sensory exotropia.This provides a new notion for the treatment of different types of strabismus.At the same time, by improving the injection technique and using the dose increment to control the drug dosage, the local drug utilization rate has been increased, and the complications has been reduced.The mechanism, efficacy, safety, and dosage of BTA in the correction of strabismus are discussed in this article, and the efficacy of BTA in correction of various types of strabismus is analyzed and compared to provide references for the use of BTA in strabismus.

Botulinum toxin A (BTA), a kind of botulinum exotoxin, which may cause muscular paralysis by the impact of chemical denervation, is commonly utilized in ophthalmology, dermatology, and medical plastic surgery.In the field of ophthalmology, it was first employed to address infantile esotropia, acute concomitant esotropia, nerve paralytic strabismus, and other kinds of strabismus.In recent years, some ophthalmologists have attempted to use BTA to correct partial accommodative esotropia, restrictive strabismus and exotropia, and found that BTA may be used as an alternate approach for extraocular muscles surgery in specific forms of strabismus, such as acute concomitant esotropia, partial accommodative esotropia and infantile esotropia (≤30 prism diopter), and can enhance the effect of surgical correction in the correction of large-angle infantile esotropia and sensory exotropia.This provides a new notion for the treatment of different types of strabismus.At the same time, by improving the injection technique and using the dose increment to control the drug dosage, the local drug utilization rate has been increased, and the complications has been reduced.The mechanism, efficacy, safety, and dosage of BTA in the correction of strabismus are discussed in this article, and the efficacy of BTA in correction of various types of strabismus is analyzed and compared to provide references for the use of BTA in strabismus.

Objective:To explore the clinical characteristics and therapeutic effect of perioral myoclonia with absences (PMA), in order to improve the clinicians′ understanding of the disease.Methods:The clinical manifestations during seizures, as well as interictal and ictal electroencephalogram (EEG) features of 3 PMA patients admitted to the Epilepsy Unit, Neurology Center, Beijing Tiantan Hospital, Capital Medical University from May to October 2024 were analyzed. The clinical manifestations, EEG characteristics, differential diagnosis, treatment experience of PMA patients were summarized by retrospective analysis combined with previous literature review.Results:The onset age of these 3 PMA cases was 15, 15, and 7 years, respectively. The prominent manifestation of seizure was perioral myoclonus without disturbance of consciousness. The duration of seizures was brief, less than 10 seconds. PMA can occur several times a day and was prone to present as continuous state of perioral myoclonus. Three patients had rare generalized tonic-clonic seizures (GTCS). The seizures could be controlled by sodium valproate, lamotrigine, levetiracetam, or combined treatment. Fifteen literatures about PMA were retrieved (4 in Chinese and 11 in English). A total of 31 patients (including these 3 patients) were included in the study, of whom 17 were males and 14 were females. The onset age was from 9 months to 34 [7.63 (2.19, 11.00)] years. Perioral myoclonus with varying degrees of disturbance of consciousness was the main seizure type, and 12 patients exhibited continuous state of perioral myoclonus, 24 patients had GTCS. Eight patients had a history of fever convulsion, 6 patients had mental or learning disabilities, and 11 patients had a family history of epilepsy or febrile convulsion. The ictal EEG showed around 3 Hz generalized spike-wave/multiple spike-wave discharges accompanied with synchronous myoelectric bursts. There were no specific abnormalities in physical examination of nervous system and cranial imaging in all the patients. Ten patients were initially diagnosed as focal epilepsy. Nine patients′ seizures were increased or worsened due to improper medication. Valproate, lamotrigine and levetiracetam were the main treatments of PMA, and the seizures of 21 patients were effectively controlled.Conclusions:PMA is clinically characterized by perioral myoclonia with varying degrees of disturbance of consciousness and is easy to be misdiagnosed as focal epilepsy, so it is necessary to use video EEG combined with synchronous electromyography to confirm the diagnosis. PMA should be treated with broad-spectrum antiseizure drugs.

【Objective】 To evaluate and analyze the impact of COVID-19 epidemic on inventory of red blood cells (RBCs)in local and municipal blood stations in China, and to provide reference for the management of public health emergencies. 【Methods】 Relevant data from 2018 to 2021 were collected, and the differences in the volume of qualified RBCs, the usage efficiency of inventory RBCs, the average daily distribution of RBCs,the blood distribution rate of RBCs prepared by 400 mL whole blood, the difference in the average storage days of RBCs at the time of distribution, the average daily inventory of RBCs and the time of the average daily inventory of RBCs to maintain the distribution in 24 local and municipal blood stations in China during the COVID-19 epidemic and non-epidemic periods were retrospectively analyzed. 【Results】 Compared with non-epidemic periods, the volume of qualified RBCs [(117 525.979 ±52 203.175)U] and the average daily distribution of RBCs [( 156. 468 ± 70. 186) U ] increased significantly, but the usage efficiency of inventory RBCs decreased(97.24%±0.51%) significantly (P<0.05).There was no significant difference in the blood distribution rate of RBCs prepared by 400 mL whole blood(73.88%±20.30%), the average storage days of RBCs distribution(13.040 ±3.486), the average daily stock quantity of RBCs[(2 280.542 ±1 446.538) U ] and the time of the average daily inventory of RBCs to maintain the distribution[(15.062 ±7.453) d] (P>0.5). 【Conclusion】 During the COVID-19 epidemic, the inventory management of RBCs operated well, the overall inventory remained relatively stable, the stock composition and storage period showed no significant change.

Objective:To explore the clinical characteristics of paroxysmal kinesigenic dyskinesia (PKD) secondary to pseudohypoparathyroidism (PHP), so as to improve the clinicians′ understanding of the disease.Methods:The clinical data of 2 cases of PKD secondary to PHP in Beijing Tiantan Hospital, Capital Medical University from June 2022 to October 2022 were summarized, and the related literature was reviewed to analyze the pathogenesis, clinical manifestations, laboratory examination and imaging characteristics of the disease, as well as its treatment and prognosis.Results:Ten cases of PKD secondary to PHP were previously reported. A total of 12 cases (including these 2 cases) were included in the study, of which 7 were males (7/12) and 5 were females (5/12). The onset age was 8-23 years. The clinical manifestations of the disease included paroxysmal limb torsion, limb stiffness, limb tremor, throwing movements, and dance like movements. There were 3 cases (3/12) who had seizure at the same time. Ten cases (10/12) were induced by exercise, while 2 cases (2/12) were not mentioned the inducing factor. Eleven cases (11/12) with paroxysmal symptoms lasting less than 2 minutes can be relieved automatically. Only 1 case had a family history. Laboratory examination of all patients showed low calcium, high phosphorus and significant elevation of parathyroid hormone. The head CT scans of 10 cases (10/12) showed multiple intracranial calcifications. There were 9 cases (9/12) alone received the supplementation of calcium and active vitamin D, while 3 cases (3/12) were additionally treated with antiepileptic drugs. All cases had good prognosis.Conclusions:PHP is a rare cause of secondary PKD. A small number of patients can have seizures at the same time. Most patients have a good prognosis after receiving calcium and active vitamin D supplementation.

Objective:To improve the knowledge of clinicians about absence status epilepsy (ASE).Methods:The ictal clinical manifestations, the interictal and ictal phase electroencephalogram (EEG) characteristics of 1 patient with ASE in the Department of Epilepsy, Beijing Tiantan Hospital, Capital Medical University on November 20, 2022 were analyzed, and the pathogenesis, clinical and EEG characteristics, differential diagnosis, treatment experience of ASE were summarized by retrospective analysis combined with previous literature review.Results:The patient was a 38-year female, with onset age of 18 years. The main clinical manifestations were repeated prolonged decline of consciousness with generalized tonic-clonic seizures. The long-range video EEG showed generalized spike-slow wave and slow wave sporadic in the interictal period, and continuous or sub-continuous 2.5-3.0 Hz generalized spike-slow wave discharge in the ictal period, and the laboratory and imaging findings were normal. A total of 17 patients consistent with ASE diagnosis were reported in 7 English literatures, and there were totally 18 cases (including this patient) analyzed in this paper. ASE is a specific subtype of idiopathic generalized epilepsy (IGE). The ratio of male to female was 1∶1. The onset age of 16/18 patients was in youth to middle age, and the average onset age was 25.3 years. Absence status epilepticus was the representative or main seizure type, and 15/18 patients presented with infrequent generalized tonic-clonic seizures, no independent myoclonic seizures were found. The interictal EEG showed generalized or incomplete generalized spike-wave or poly spike-wave discharges around 3.0 Hz under normal background, and may have focal non-localizing discharges. The ictal EEG presented as continuous or sub-continuous rhythmical or non-rhythmical≥2.5 Hz (mainly 2-4 Hz) generalized spike or poly spike-wave discharges. ASE mainly needed to be distinguished from de novo late-onset absence status epilepticus, adult IGE with phantom absences. The first choice of drugs included valproate sodium and lamotrigine. The correct drug selection resulted in better prognosis. Conclusions:ASE is clinically rare. By far, its pathogenesis is not well understood. ASE can easily be misdiagnosed as non-epileptic or focal seizure. For patients with late onset, infrequent generalized tonic-clonic seizures who are clinically consistent with IGE, ASE is necessary to be vigilant when there are long-term changes in consciousness, response ability and behavior. Long-term video EEG monitoring should be perfected in time to avoid misdiagnosis and mistreatment.

Objective To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods The natural history,clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family.Whole exon sequence(WES)analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing. The genotype-phenotype features were compared with previously reported cases. Results A novel pathogenetic LGI1 frameshift mutation p.T134fs was identified in this study. The clinical phenotype was different from reported. Conclusion This study reports a pathogenic LGI1 mutation in a Chinese ADLTE family for the first time, which suggests that LGI1 is a new genetic abnormality of ADLTE in Chinese.

Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging ( MRI ) and 18 F-fluoro-deoxy-glucose positron emission tomography ( FDG-PET ) , inflammatory cerebrospinal fluid ( CSF ) , electroencephalography ( EEG ) , and associated tumour in autoimmune epilepsy ( AE) patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1(LGI1) in 24, anti-N-methyl-D-aspartate receptor ( NMDAR ) in nine. The case series of 42 patients had an average age of (49. 9 ± 14. 5) years with a male to female ratio of 5:1. Except anti-NMDAR associated AE, most patients (21/33) presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs ( AEDs) and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures. All AE patients present as drug refractory epilepsy initially. Seizures in AE patients can be well controlled by immunotherapy combined with AEDs.

Objective To investigate the expression of plasma microRNA-214 in patients with acute myocardial infarction (AMI) and its correlation with left ventricular remodeling (LVR). Methods A total of 158 AMI patients and 85 controls were selected from Hebei province Zhuozhou City Hospital. According to the left ventricular remodeling after PCI operation, AMI patients were divided into LVR group (n=41) and non LVR group (n=105). Real-time quantitative reverse transcription-polymerase chain reaction (RT-PCR) was used to detect the plasma microRNA-214 levels, and the brain natriuretic peptide (BNP) and C-reactive protein (CRP) levels were detected by immunoassay. Pearson correlation analysis of plasma microRNA-214 levels and the correlation between CRP and BNP were analyzed in patients with LVR. The receiver operating characteristic (ROC) curve analysis of plasma microRNA-214, BNP and CRP were used to predict the efficacy of LVR in patients with AMI after PCI. Logistic regression model was used to analyze the relationship between the above indexes and LVR. Results Compared with the control group, left ventricular ejection fraction (LVEF) and left ventricular short axis shortening (FS) were significantly decreased in LVR group and non LVR group, and which were decreased more significantly in LVR group compared with those of non LVR group (P<0.05). The left ventricular end diastolic diameter (LVDD), left ventricular end diastolic volume (LVEDV) and left ventricular end systolic volume (LVESV) were significantly increased in LVR group and non LVR group, and which were increased more significantly in LVR group than those in non LVR group (P<0.05). The levels of plasma microRNA-214, BNP and CRP were significantly higher in LVR group than those in non LVR group and control group (P<0.05). Correlation analysis showed that microRNA-214, BNP and CRP were positively correlated in patients with LVR (r=0.684 and r=0.405, P<0.01). The area under ROC curve (AUC) and 95%CI predicted by plasma microRNA-214 and BNP were 0.824 (0.757-1.015) and 0.785 (0.721-0.864) in patients with AMI and LVR, which were higher than CRP [0.716 (0.645-0.837), P=0.0167]. The sensitivity and specificity of plasma microRNA-214 in predicting the occurrence of LVR were 72.6% and 86.2% in patients with AMI, respectively. Logistic regression model analysis showed that plasma microRNA-214 and BNP were risk factors of LVR. Conclusion High expression of plasma microRNA-214 is found in LVR patients, which is expected to be the biological indicator for predicting the occurrence of LVR after PCI in patients with AMI.