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 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 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 investigate the application value of shear wave elastography (SWE) and real-time tissue elastography (RTE) in differential diagnosis of thyroid Amereican College Radiology (ACR) TR5 nodules.Methods:Patients who underwent ultrasound examination at the Fourth Affiliated Hospital of Harbin Medical University from August 2018 to June 2019 diagnosed as ACR TR5 nodules were surveyed, and received SWE and RTE examinations to evaluate the nodules hardness. The receiver operating characteristic curve (ROC curve) was drawn to obtain the best diagnostic cutoff value for the Young's modulus maximum (Emax) of the benign and malignant thyroid ACR TR5 nodules using SWE technique; using the 5-point method, the elasticity score (ES) was used to evaluate the benign and malignant ACR TR5 nodules by RTE technology, and the pathological results were regarded as "gold standard". The accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of SWE, RTE and two elastography techniques in differential diagnosis of benign and malignant thyroid ACR TR5 nodules were compared.Results:A total of 65 patients were enrolled, with a total of 73 ACR TR5 nodules. The optimal Emax threshold for differential diagnosis of ACR TR5 nodules by SWE technology was 41.8 kPa, and 32 malignant nodules and 41 benign ones were determined. Of the 73 ACR TR5 nodules using RTE technology, 38 had ES scores of 1 to 3 and 35 had ES scores of ≥4. Pathological results showed that among 73 thyroid ACR TR5 nodules, benign nodules accounted for 45.21% (33/73), malignant nodules accounted for 54.79% (40/73). The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of SWE, RTE and two elastography techniques for differential diagnosis of benign and malignant thyroid ACR TR5 nodules were 72.50%, 77.50%, 87.50%; 90.91%, 87.88%, 87.88%; 80.82%, 82.19%, 87.67%; 90.63%, 88.57%, 89.24% and 73.17%, 76.32%, 85.29%.Conclusions:Ultrasound elastography of two different imaging principles of SWE and RTE is an effective method for differential diagnosis of benign and malignant thyroid ACR TR5 nodules. The combination of the two is more advantageous.

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 value of real-time elastography (RTE) in evaluating the characteristics and elasticity index (E-index) changes at different echo level of uterine fibroids before and after radiofrequency ablation (RFA).Methods A total of 43 patients (with 55 lesions) accepted RFA under ultrasound guidance in the Fourth Affiliated Hospital of Harbin Medical University from September 2013 to January 2015.All lesions were confirmed to have no perfusion through ultrasonography 1 h after RFA.The diameter of lesions ranging from 1.0 cm to 3.0 cm (with an average of 1.9± 1.2 cm).Preoperative lesions were classified into 3 groups for comparison based on ultrasonic echo type,group A:hypo echo (n=30);group B:hyper echo (n=12);and group C:mixed echo (n=12).Measured elasticity index E-index and internal uniformity (△ E) were analyzed.Comparisons of E value and△ E value were performed with repeated measures.RTE images features using x2 test of Fisher inspection comparison at the same time differences between groups.Results (1) Before RFA,RTE images showed blue alternating with green with green being dominated accounting for 70％ (21/30).50％ of RTE images in group B were completely covered in blue (6/12),while group C exhibited 53.9％ blue alternating with green with blue being dominated (7/13).There were statistically significant characteristics of RTE images among 3 groups (P ＜ 0.01).1 h after RFA,74.5％ lesions exhibited with blue being dominated (41/55).However,83.6％ (41/55) exhibited with blue 3 months after RFA.The difference in characteristics of RTE among 3 groups displayed no statistical significance (P ＞ 0.05).(2) The comparison of E-index revealed that before RFA,the E value was the lowest in the group A and the highest in the group B,while the group C was between them.There was significant difference between group A and B (F=19.25,P ＜ 0.01).E-index elevated in all the three groups and significant differences were found 1 h,3 month after RFA in comparison with that before RFA in the group A (F=386.75,294.68,both P ＜ 0.01).In addition,significant differences were also found 1 h,3 month after RFA in comparison with the treatment in the group B (F=29.98,45.88,both P ＜ 0.01).As for the group C,there were significant differences in E-index 1 h,3 month after RFA compared with before RFA (F=120.29,139.64,both P ＜ 0.01).3 months after RFA,E-index further elevated in the three groups and no significant inter-group difference was found at the same time points (P ＞ 0.05).(3)Before RFA,the△ E value was lower in group A and group B,while higher in the group C,group C presenting significant difference from group A and B (F=484.68,344.15,both P ＜ 0.01).At 1 h after RFA,△ E value was higher in group A and group C,while lower in group B,with group B showing significant difference from the low and mixed echo groups (F=53.58,94.79,both P ＜ 0.01).Significant difference was observed 1 h after surgery compared to before RFA in group A (F=154.35,P ＜ 0.01).Significant difference was also found 1 h after RFA compared to 3 month after RFA in group A (F=266.85,P ＜ 0.01).As for group C,there were also significant differences in△ E-index before treatment and 1 h after RFA compared with 3 month after RFA (F=103.24,76.53,both P ＜ 0.01).At 3 months after RFA,△ E-index decreased in all three groups.No significant inter-group difference was found at the same time points (all P ＞ 0.05).Conclusions RTE characteristics and the elasticity index are distinctly different among uterine fibroid at various echo intensities.RTE contributes to judging changes in hardness before and after RFA.The application of RTE for quantitative comparison of lesion hardness and uniformity can be served as the foundation for evaluating therapeutic effects of RFA.

Objective:To investigate the application value of real-time ultrasound elastography in the treatment of fibroids radiofrequency ablation (RFA).Methods:Transvaginal ultrasonography,Real-time ultrasound elastography (RTE) and contrast-enhanced ultrasonography (CEUS) were performed on 34 patients with a total of 38 uterine fibroids who had the treatment of RFA before,1 hour and 3 months after the treatment of RFA.Detected the diameters of the lesions with the three methods of CEUS,RTE and 2D.Analysed the elastic image features and divided into groups,Measured the elastic strain ratio and compared the E/E0 in and between the group.The difference of lesion diameter between 2D,RTE and CEUS was compared.When the image of lesions showed blue and green was taken as the cirterion of incomplete ablation after RFA,conpared with CEUS,analysed the consistency of RTE and CEUS in evaluating the degree of ablation.Results:The lesions were divided into 3 groups according to the preoperative elastic image,with 8 (21.1％) in the blue group,20 (52.6％) in blue-based and 10 (26.3％) in green-based group.The difference was obvious in E/E0 between the 3 groups before RFA.There was no significant difference in E/E0 between 1 hour and 3 months after RFA (P ＞ 0.05).In each group the E/E0 of lesions were significantly increased at 1 hour and 3 months after the treatment of FRA,and the hardness of 3 months after RFA was harder than that of 1 hour after RFA(P＜0.05).The diameter measured by RTE was larger than that by 2D and CEUS before RFA(P＞0.05).The diameter measured by 2D was larger than that by RTE and CEUS at 1 hour after RFA (P＜0.05).No statistically significant difference was found in the lesion diameters among the three methods of2D,RTE and CEUS at 3 months after the treatment ofRFA (P＞0.05).CEUS and RTE had the basic consistent in the evaluation of lesions ablation degree at 1 hour (kappa=0.46) and 3 months (kappa=0.54) after the treatment of RFA.Conclusions:After RFA,the myoma gradually hardens,and RTE can reflect the change of the hardness,RTE can clearly show the boundary of uterine ftbroids especially after the treatment of RFA,can be used in the prediction of lesions ablation degree,so there was a certain application value of RTE used in RFA.

Objective To explore the influences of guided education training on quality of life of long-term inpatients with schizophrenia. Methods A total of 79 inpatients ( at last one year for being hospitalized) with schizophrenia were divided into control group ( routine treatment and nursing ) and observation group ( routine treatment and nursing combined with guided education rehabilitation training ) according to random number table method from April 2013 to March 2014. Patients between two groups were evaluated with insight and treatment attitude questionnaire ( ITAQ) , scale of social function for psychosis in-patients ( SSFPI) , social support rating scale ( SSRS) , generic quality of life inventory ( GQOLI) one day before intervention and twelve, twenty-four weeks after intervention. Results Twelve weeks after intervention, quality of life of patients in observation group was higher than that in control group with a significant difference (P<0. 05), while there were no significant difference among other aspects(P>0. 05). Twenty-four weeks after intervention, the scores of ITAQ, SSFPI, SSRS, GQOLI in observation group were better than those in control group with significant differences (P<0. 05). Conclusions The guided education training can effectively improve the quality of life of long-term inpatients with schizophrenia.

ObjectiveTo explore changes of immune factors in serum before and after ultrasound-guided (US-guided ) interventional treatment of ovarian endometrial cyst.MethodsNine patients with ovarian endometrial cyst were selected between December 2011 and December 2013 in the fourth affiliated hospital of Harbin Medical University. All patients performed US-guided interventional treatment, the serum specimens were collected before and after three months of treatment respectively. NimbleGen genome microarray of serum specimens were performed to analysis the gene function and gene pathways of related factors of ovarian endometrial cyst and to find out factors with significant expression differences before and after treatment. The relevance between factors with significant expression differences and the pathogenesis of ovarian endometrial cyst were analyzed.ResultsThe expression of CD36, NR4A1and HES1 were found to be down-regulated after US-guided interventional treatment of ovarian endometrial cyst by NimbleGen genome microarray. The gene function of CD36, NR4A1 and HES1participating in angiogenesis, chemotaxis, cell adhesion was relevant to the pathogenesis of the ovarian endometrial cyst, and played roles through Adipocytokine signaling pathway, MAPK signalig pathway, Maturity onset diabetes of the young signaling pathways.ConclusionSerum CD36, NR4A1 and HES1of ovarian endometrial cyst were down-regulated after US-guided ethanol sclerotherapy , and involved in the pathogenesis of ovarian endometrial cyst .