Behavioral scoring based on clinical observations remains the gold standard for screening,diagnosing,and evaluating infantile epileptic spasm syndrome(IESS).The accurate identification of seizures is crucial for clini...Behavioral scoring based on clinical observations remains the gold standard for screening,diagnosing,and evaluating infantile epileptic spasm syndrome(IESS).The accurate identification of seizures is crucial for clinical diagnosis and assessment.In this study,we propose an innovative seizure detection method based on video feature recognition of patient spasms.To capture the temporal characteristics of the spasm behavior presented in the videos effectively,we incorporate asymmetric convolutions and convolution–batch normalization–ReLU(CBR)modules.Specifically within the 3D-ResNet residual blocks,we split the larger convolutional kernels into two asymmetric 3D convolutional kernels.These kernels are connected in series to enhance the ability of the convolutional layers to extract key local features,both horizontally and vertically.In addition,we introduce a 3D convolutional block attention module to enhance the spatial correlations between video frame channels efficiently.To improve the generalization ability,we design a composite loss function that combines cross-entropy loss with triplet loss to balance the classification and similarity requirements.We train and evaluate our method using the PLA IESS-VIDEO dataset,achieving an average seizure recognition accuracy of 90.59%,precision of 90.94%,and recall of 87.64%.To validate its generalization capability further,we conducted external validation using six different patient monitoring videos compared with assessments by six human experts from various medical centers.The final test results demonstrate that our method achieved a recall of 0.6476,surpassing the average level achieved by human experts(0.5595),while attaining a high F1-score of 0.7219.These findings have substantial significance for the long-term assessment of patients with IESS.展开更多
The intimate anatomical relationship of the facial nerve to the parotid parenchyma has a significant influence on the presenting signs and symptoms, diagnosis and treatment of parotid neoplasms.However, to our knowled...The intimate anatomical relationship of the facial nerve to the parotid parenchyma has a significant influence on the presenting signs and symptoms, diagnosis and treatment of parotid neoplasms.However, to our knowledge, hyperactivity of this nerve, presenting as facial spasm, has never been described as the presenting sign or symptom of a parotid malignancy.We report a case of carcinoma arising in a recurrent pleomorphic adenoma of the left parotid gland(i.e., carcinoma ex pleomorphic adenoma) that presented with hemifacial spasms.We outline the differential diagnosis of hemifacial spasm as well as a proposed pathophysiology.Facial paralysis, lymph node enlargement, skin involvement, and pain have all been associated with parotid malignancies.To date the development of facial spasm has not been reported with parotid malignancies.The most common etiologies for hemifacial spasm are vascular compression of the ipsilateral facial nerve at the cerebellopontine angle(termed primary or idiopathic)(62%), hereditary(2%), secondary to Bell's palsy or facial nerve injury(17%), and hemifacial spasm mimickers(psychogenic, tics, dystonia, myoclonus, myokymia, myorthythmia, and hemimasticatory spasm)(17%).Hemifacial spasm has not been reported in association with a malignant parotid tumor but must be considered in the differential diagnosis of this presenting symptom.展开更多
Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adren...Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adrenocorticotropic hormone(ACTH)is one of the first-line and effective treatment plans for IESS,it has serious side effects and is not sufficiently effective.Methods A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate(MgSO_(4))therapy for IESS in two hospital centers was conducted.The major outcome of the single and combined treatment was evaluated by changes in seizure frequency and improvements in hypsarrhythmia electroencephalography(EEG).To reduce the confounding bias between the two groups,we used SPSS for the propensity score matching(PSM)analysis.Results We initially recruited 1205 IESS patients from two Chinese hospitals and treated them with ACTH combined with MgSO_(4) and ACTH alone.Only 1005 patients were enrolled in the treatment(ACTH combined with MgSO_(4):744,ACTH:261),and both treatment plans had a more than 55% response rate.However,compared to patients treated with ACTH alone,those patients treated with ACTH combined with MgSO_(4) had better performance in terms of the seizure frequency and hypsarrhythmia EEG.After PSM,the two groups also showed significant differences in responder rate[70.8%(95% confidence interval,CI)=66.7%–74.8%)vs.53.8%(95%CI=47.4%–60.2%),P<0.001],seizure frequency(P<0.001)and hypsarrhythmia EEG resolution(P<0.001).Notably,multivariate analysis revealed that the lead time to treatment and the number of antiseizure medications taken before treatment were two factors that may affect the clinical outcome.Patients with less than 3 months of lead time responded to the treatment much better than those with>3 months(P<0.05).In addition,the overall incidence of adverse reactions in the ACTH combined with MgSO_(4) group was much lower than that in the ACTH group(31.4%vs.63.1%,P<0.001).During the treatment,only infection(P=0.045)and hypertension(P=0.025)were significantly different between the two groups,and no baby died.Conclusion Our findings support that ACTH combined with MgSO_(4) is a more effective short-term treatment protocol for patients with IESS than ACTH alone,especially for those patients with short lead times to treatment.展开更多
Background In this study,we aimed to assess the efcacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome(IESS)and examine the factors infuencing the post-surgical outcomes.Meth...Background In this study,we aimed to assess the efcacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome(IESS)and examine the factors infuencing the post-surgical outcomes.Methods The clinical data of 30 children(18 males and 12 females)with epileptic spasms(ES)who underwent surgery at the Epilepsy Center of Shenzhen Children’s Hospital between June 2018 and June 2020 were retrospectively analyzed.Post-surgical outcomes were evaluated using the Engel Epilepsy Surgery Outcome Scale.Scalp electroencephalography and developmental quotient were assessed preoperatively and postoperatively.Univariate analysis and exact logistic regression analyses were used to identify the factors afecting the postoperative efcacy.Results Of the 30 patients who underwent surgical resection,22(73.3%)achieved Engel’s classⅠ-Ⅱoutcomes.Additionally,motor and cognitive functions improved in 14 patients(46.7%).The development of 12(40%)patients remained at the preoperative development level.The median number of antiseizure medications taken preoperatively was 5.27(range 2-10),which decreased to 1.90(range 0-4)at the last follow-up.Seizure duration,etiology,positive positron emission tomography-magnetic resonance imaging(PET-MRI),surgery type,and lesion location were signifcantly correlated with the postoperative efcacy(P<0.05).Positive PET/MRI fndings and lesion location predicted independently the postoperative outcomes.Permanent impairments of motor or language function were rare,with only two cases reporting hydrocephalus and one reporting hemiplegia.Conclusions Surgery is an efective treatment option for children with IESS.Early referral and comprehensive preoperative evaluation are essential for identifcation of surgically treatable structural lesions.The primary surgically treatable cause is cortical malformation,followed by perinatal brain injury.Hemispheric disconnection is a preferred surgical approach.Positive PET/MRI fndings and lesion location predicted the postoperative outcomes.展开更多
Backgroud Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms(LOS).However,there is a lack of comprehensive analysis and summary of clinical data related to ...Backgroud Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms(LOS).However,there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms(TS),including seizures,video-electroencephalogram(V-EEG),synchronous electromyography(EMG)and follow-up data.Methods To investigate the characteristics of TS,we prospectively collected the clinical data,including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020.The patients were prescribed anti-seizure medications(ASMs)and followed up for 2–7 years.Results The average age of epilepsy onset was 48.06±16.07 months(range:25 to 88 months).Among the enrolled patients,22 patients presented with mild intellectual deficits.During the 24-h video-EEG monitoring,an average of 6.94 TS events(range:3 to 21)were recorded,and these TS seizures often occurred in clusters.In addition to TS,26 patients experienced generalized tonic-clonic seizures(GTCS),atypical absence seizures,myoclonic seizure,and epileptic spasms.None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording.A total of 28 patients showed normal EEG backgrounds.Interictal epileptic discharges,including slow waves(SW),spike/sharp slow waves(SSW),and spikes,often displayed multifocally.Notably,two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine(OXC),which was associated with normalization of the EEG.Conclusions It is difficult to classify the patients with TS as any existing epileptic syndromes,which were distinct from West syndrome or Lennox-Gastaut syndrome.TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.展开更多
BACKGROUND Thiocolchicoside(TCC),a muscle relaxant with anti-inflammatory properties,is often used alongside nonsteroidal anti-inflammatory drugs(NSAIDs)to treat musculoskeletal pain.This synergistic approach leverage...BACKGROUND Thiocolchicoside(TCC),a muscle relaxant with anti-inflammatory properties,is often used alongside nonsteroidal anti-inflammatory drugs(NSAIDs)to treat musculoskeletal pain.This synergistic approach leverages the complementary mechanisms of action,providing more effective relief for conditions such as arthritis,muscle spasms,and soft tissue injuries.AIM To evaluate the comparative efficacy of the combination therapy of TCC and NSAIDs vs NSAID monotherapy in pain management.METHODS A systematic search of PubMed and Google Scholar databases through October 2024 was performed to evaluate the effectiveness of combined TCC and NSAID therapy vs NSAIDs alone.A retrospective analysis of electronic medical records from India spanning 3 years(2020-2023)examined treatment patterns and focused on clinical outcomes including pain relief,functional improvement,and adverse effects.Key metrics for assessment included visual analog scale scores and hand-to-floor distance,with secondary outcomes assessing patient satisfaction and adverse event(AE)incidence.RESULTS A systematic literature search revealed seven studies,involving 1137 subjects,aligning with the eligibility criteria from a total of 833 hits.Combination therapy using parenteral TCC with NSAIDs significantly reduced pain intensity[standardised mean difference(SMD):-1.33,P<0.001]and enhanced functional improvement(SMD:-1.08,P<0.001)compared to NSAIDs alone.Patients on combination therapy are 6.7 times more likely to experience over 30%pain relief and 5.2 times more likely to achieve over 50%pain relief.Post surgery pain reduction and patient satisfaction were notably higher in the combination group[odds ratio(OR)=10.14,P<0.001].There were no significant differences in mild/moderate AE rates between the groups(OR=1.30,P=0.378).CONCLUSION Evidence indicates that multimodal therapy,including parenteral TCC with NSAIDs,provides quicker and effective pain relief,reduces muscle spasms,and improves hand-to-floor distance compared to using NSAIDs or TCC alone.展开更多
Background Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate mo...Background Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS). Methods The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS. Results Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic. Age of seizure onset was 5.36 ± 1.48 months. Spasms were controlled within a week in most of the patients. At the last follow-up, EEG returned to normal in 8. Psychomotor development was normal in 6, mild delay in 3, severe delay in 2. Of the 17 patients with TPM-control IS, 10 were cryptogenic/idiopathic. The age of seizure onset was 5.58 ± 2.09 months. All patients were controlled within a month. At the last follow-up, EEG was normal in 10. Psychomotor development was normal in 8, mild delay in 5, severe delay in 4. Genetic analysis did not show any meaningful results. Conclusions The clinical characteristics and disease courses of pyridoxine responsive IS and TPM-control IS were similar, which possibly clued for a same pathogenic mechanism. Pyridoxine should be tried first in all IS patients, even in sympto-matic cases. If patients were not responsive to pyridoxine, TPM could be tried.展开更多
Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however,...Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however, ACTH therapy is ineffective for some patients. The variations in the receptor genes can contribute to antiepileptic drug resistance. This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. Methods We screened for variations in the promoter and coding region of the MC2R gene in 91 Chinese patients with infantile spasms and 94 controls, using PCR and a direct sequencing method. The frequencies of the genotypes, alleles and reconstructed haplotypes were analyzed in the cases and controls. The association between ACTH responsiveness and genetic variations of the MC2R gene was also assessed. Results Four single nucleotide polymorphisms （SNPs） were identified in the MC2R promoter, one of which was a novel specimen at position-2 from the transcription start site ATT, -2T〉C. Three SNPs （rs1893220, rs2186944 and -2T〉C） showed a significant difference between the cases and controls （P 〈0.05 for all）. The frequency of the common TCCT haplotype carrying four-SNP major alleles was significantly lower in the cases （39%） than in the controls （60%） （P=-0.00003）. The homozygous carriers of the TCCT haplotype had a much lower relative risk than the non-carriers （RR=O.42, 95%C/ 0.26-0.70, P=-0.0001）. ACTH responsiveness was strongly associated with the TCCT haplotype （P=-0.000082）. Compared with non-carriers of the TCCT haplotype, the homozygous and heterozygous carriers were more responsive to ACTH therapy （P=0.0002; P=-0.0003, respectively）. Conclusions Our results indicated that the TCCT haplotype in the MC2R promoter is strongly associated with the responsiveness of the ACTH therapy performed on patients with infantile spasms. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms.展开更多
Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we...Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we investigated the efficacy of KD therapy in the treatment of infantile spasms.Methods:In this retrospective,multicenter cohort study,clinical data from main epilepsy centers were analyzed.Patients were classified into different groups according to age,type of drug and whether glucocorticoid was used before initiation of KD.Results:From October 2014 to March 2020,481 patients(308 males and 173 females)with infantile spasms were treated with the KD therapy.The age of the patients ranged from 2 months to 20 years,with a mean age of 1 year and 10 months.The number of anti-seizure medications(ASMs)used before KD initiation ranged 0-6,with a median of 3.In different time from initiation(1,3,6,and 12 months),the rates of seizure freedom after KD were 6.9,11.6;16.0 and 16.8%,respectively(x^(2)=27.1772,P<0.0001).There was a significant difference in the rate of seizure freedom between 3 months and 1 month(x^(2)=6.5498,P=0.0105)groups,and 6 months and 3 months(x^(2)=3.8478,P=0.0498)groups,but not between 12 months and 6 months(x^(2)=0.1212,P=0.7278)groups.The rates of effectiveness were 44.7;62.8,49.1 and 32.0%(x^(2)=93.2674,P<0.0001),respectively.The retention rates were 94.0,82.5,55.7 and 33.1%(x^(2)=483.7551,P<0.0001),correspondingly.The rate of effectiveness and the retention rate of KD were significantly different among the 1,3,6 and 12 months.KD treatment was the first choice in 25 patients(5.2%),55 patients(11.4%)started KD after the failure of the first ASM,158 patients(32.8%)started KD after the failure of the second ASM,157 patients(32.6%)started KD after the failure of the third drug,and 86 patients(17.9%)started KD after the failure of the fourth and more.The KD effect was not related to the number of ASMs used before KD startup(P>0.05).Two hundred and eighteen patients(45.3%)failed to respond to corticotropin or glucocorticoid before initiation.There was no significant difference in the effectiveness rate at different time points between the group of KD therapy after glucocorticoid failure and the group after non-hormone failure (x^(2)=0.8613,P=0.8348).The rate of adverse events of KD in 1,3,6,and 12 months after KD initiation were 22.3,21.7,16.8 and 6.9%,respectively.The adverse events mainly occurred during the first 3 months of KD,and the main adverse events were gastrointestinal disturbance and constipation.Conclusions:The efficacy of the KD treatment for infantile spasms was not affected by age,medication,and glucocorticoid use before initiation.KD is one of the effective treatments for infantile spasms.展开更多
Background Even though adrenocorticotropic hormone(ACTH)demonstrated powerful efficacy in the initially successful treatment of infantile spasms(IS),nearly half of patients have experienced a relapse.We sought to inve...Background Even though adrenocorticotropic hormone(ACTH)demonstrated powerful efficacy in the initially successful treatment of infantile spasms(IS),nearly half of patients have experienced a relapse.We sought to investigate whether features of electroencephalogram(EEG)predict relapse in those IS patients without structural brain abnormalities.Methods We retrospectively reviewed data from children with IS who achieved initial response after ACTH treatment,along with EEG recorded within the last two days of treatment.The recurrence of epileptic spasms following treatment was tracked for 12 months.Subjects were categorized as either non-relapse or relapse groups.General clinical and EEG recordings were collected,burden of amplitudes and epileptiform discharges(BASED)score and multiscale entropy(MSE)were carefully explored for cross-group comparisons.Results Forty-one patients were enrolled in the study,of which 26(63.4%)experienced a relapse.The BASED score was significantly higher in the relapse group.MSE in the non-relapse group was significantly lower than the relapse group in theγband but higher in the lower frequency range(δ,θ,α).Sensitivity and specificity were 85.71%and 92.31%,respectively,when combining MSE in theδ/γfrequency of the occipital region,plus BASED score were used to distinguish relapse from non-relapse groups.Conclusions BASED score and MSE of EEG after ACTH treatment could be used to predict relapse for IS patients without brain structural abnormalities.Patients with BASED score≥3,MSE increased in higher frequency,and decreased in lower frequency had a high risk of relapse.展开更多
Importance:Infantile spasm(IS)is a kind of refractory epilepsy.The first-line treatments for IS are adrenocorticotropic hormone(ACTH),oral corticosteroids,and vigabatrin.Objective:This study aimed to evaluate the effi...Importance:Infantile spasm(IS)is a kind of refractory epilepsy.The first-line treatments for IS are adrenocorticotropic hormone(ACTH),oral corticosteroids,and vigabatrin.Objective:This study aimed to evaluate the efficacy of magnesium sulfate and ACTH(MgSO_(4)+ACTH)combination therapy in patients with IS who failed first-line treatments.Methods:In this retrospective study,the clinical data of patients with IS who failed first-line treatments were collected in the Chinese PLA General Hospital.Patients received MgSO_(4)+ACTH combination therapy after first-line treatments failed.The course of treatments was 2 weeks.The therapeutic dose of ACTH and MgSO_(4)was 2.5 U·kg^(-1)·d^(-1)and 0.25 g·kg^(-1)·d^(-1),respectively.Results:A total of 229 patients with IS who failed the first-line treatments were collected.At the end of the MgSO_(4)+ACTH combination treatment,the seizure-free rate was 48.5%(111/229),and the resolution of hypsarrhythmia on electroencephalogram(EEG)was 72.1%(165/229).About 21.4%(49/229)of patients showed side effects,including infectious diseases,hypokalemia,and diarrhea.Interpretation:For patients with IS who failed first-line treatments,in terms of the seizure-free rate and resolution of hypsarrhythmia on EEG,MgSO_(4)+ACTH combination therapy can be considered.展开更多
Background:Infantile spasms(IS)are the most common childhood epileptic encephalopathy.Focal cortical dysplasia(FCD)and gray matter heterotopias(GH)are common structural causes of IS.The recommended first-line treatmen...Background:Infantile spasms(IS)are the most common childhood epileptic encephalopathy.Focal cortical dysplasia(FCD)and gray matter heterotopias(GH)are common structural causes of IS.The recommended first-line treatment for IS patients with structural causes is surgical intervention,according to the International League Against Epilepsy(ILAE)commission guidelines.However,there is currently no consensus on appropriate timings of surgery.Case presentations:Two structural IS cases are presented here:one was caused by FCD,and the other by GH.Both patients exhibited recurrent seizures at the age of 2 months,had poor responses to various antiepileptic drugs(AEDs)and displayed severe mental and motor developmental retardation.Seizure types included focal seizures and spasms.Brain magnetic resonance imaging showed abnormal gray signal or suspicious FCD lesions that coincided with the origin of the focal seizures.The patients underwent lesion resection before the age of 6 months.Follow-up observation showed that seizures of both patients were completely controlled several days after the surgery.All AEDs were gradually reduced in dosage within 1 year,and the mental and motor development almost returned to normal.Conclusion:Early resection of lesions in structural IS patients has benefits of effectively controlling convulsions and improving developmental retardation.Infants at several months of age can well tolerate craniotomy,and their cognitive development is more likely to return to normal after early surgery.展开更多
To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-...To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-propeller protein-associated neurodegeneration (BPAN),is caused by mutation of the WDR45 gene.To date,59 novel WDR45 mutations have been reported.The literature indicates that it is difficult to detect the disorder in early childhood because no specific clinical or imaging features exist. In this report,we describe the case of a 9-month-old male Chinese infant with a novel mutation (c.977-1 C >T)in the WDR45 gene.展开更多
BACKGROUNDA mid-esophageal diverticulum is an outpouching located in the midsection ofthe esophagus, posterior to the bifurcation of the right and left bronchi. The conditionis characterized by an outward protrusion o...BACKGROUNDA mid-esophageal diverticulum is an outpouching located in the midsection ofthe esophagus, posterior to the bifurcation of the right and left bronchi. The conditionis characterized by an outward protrusion of the inner esophageal wall. Midesophagealdiverticula are relatively rare and may coexist with diffuse esophagealspasm. However, the potential esophageal motility disorders associated withthese lesions are frequently overlooked in clinical practice. The use of endoscopicinterventions may offer a novel approach for the alleviation of dysphagia associatedwith this condition.CASE SUMMARYWe present a case of a 74-year-old woman with dysphagia, diagnosed with midesophagealdiverticulum and diffuse esophageal spasm. Due to her physical condition,submucosal tunneling endoscopic septum division (STESD) was initiallyperformed for the diverticulum. One month later, the esophageal spasm wastreated using per-oral endoscopic myotomy (POEM). This combined treatmentsignificantly improved her dysphagia, and she was discharged.CONCLUSIONSTESD and POEM are effective and safe for the treatment of dysphagia caused bymid-esophageal diverticula with diffuse esophageal spasm.展开更多
To the Editor:Hemimasticatory spasm(HMS)is a relatively rare type of unilateral trigeminal nerve(TN)motor branch dysfunction,whose pathogenesis is currently unknown.The clinical manifestations of HMS are involuntary p...To the Editor:Hemimasticatory spasm(HMS)is a relatively rare type of unilateral trigeminal nerve(TN)motor branch dysfunction,whose pathogenesis is currently unknown.The clinical manifestations of HMS are involuntary paroxysmal convulsions of the muscles innervated by the associated unilateral trigeminal motor branch.Recently,the academic community has proposed two etiologies for HMS:TN compression and central lesion theory.[1]Clinically,HMS must be distinguished from oromandibular dystonia,facial muscle spasm,multiple sclerosis pain spasm,and focal epilepsy.Generally,electromyography(EMG)can confirm the diagnosis.The current outcomes of multidrug and botulinum toxin injection treatments remain unsatisfactory.Only patients with cranial neurovascular conflicts have an excellent response to microvascular decompression(MVD)surgery.展开更多
Epileptic spasm(ES)is one of the most common types of seizures in children.It is primarily characterized by brief axial contractions lasting less than 2 s and recurring in short clusters.It usually occurs in children ...Epileptic spasm(ES)is one of the most common types of seizures in children.It is primarily characterized by brief axial contractions lasting less than 2 s and recurring in short clusters.It usually occurs in children of 3 to 12 months of age,although it can also occur after the age of 1 year.In general,children with ES develop other symptoms of epilepsy,such as tonic,tonic-clonic,or focal seizures,after 3 to 5 years of age.ES in children is often damaging and usually results in developmental regression.First-line treatments for spasm seizures include adrenocorticotropic hormone(ACTH)and vigabatrin.However,many patients fail to respond to these medications,and continued to have spasms associated with progressive neurodevelopmental degeneration.Therefore,it is important to consider whether children with drug resistance meet surgical indications to consider surgical treatment in such conditions.In this study,we reviewed and summarized the importance of preoperative evaluation in order to provide surgical options for treatment of children with ES.展开更多
Background:To investigate the effects of acupuncture on post-stroke limb spasm model rats and the underlying mechanism.Methods:A total of 50 Sprague-Dawley rats were randomly divided into three groups,Control group(10...Background:To investigate the effects of acupuncture on post-stroke limb spasm model rats and the underlying mechanism.Methods:A total of 50 Sprague-Dawley rats were randomly divided into three groups,Control group(10),Model group(20)and Zhishen Tiaoxing(ZSTX)acupuncture group(20).Middle cerebral artery occlusion was conducted in SD rats to establish post-stroke limb spasm rats,which were treated with ZSTX acupuncture.Behavioral assays were determined by the Narrow ally test,the limb muscle tension was detected by the BL-420S test system,and infarct volume was assessed after the cerebral infarction by 2,3,5-triphenyltetrazolium chloride staining.Heterogeneous neurotransmitterγ-aminobutyric acid(GABA)and its receptors GABAA and GABAB in the cerebral cortex of the infarct area were determined by immunofluorescence assay.The release of Trkb and K-Cl cotransporter isoform 2 was detected by an immunofluorescence double labeling study.Western Blot was utilized to measure the expression of BDNF and Trkb.Results:The results showed that the behavioral assays in post-stroke limb spasm rats were significantly improved by the treatment of ZSTX acupuncture.14 days of ZSTX acupuncture can effectively inhibit muscle tone and decrease Infarct volume,which was measured with BL-420S biological function experiment system and triphenyltetrazolium chloride.Meanwhile,the results of Double-Label Immunofluorescence Assays showed that ZSTX acupuncture improved the expression of GABA,GABAA,GABAB,BDNF,and K-Cl cotransporter isoform 2.Double-Label Immunofluorescence Assays and WB results showed that 14 days ZSTX acupuncture declined the expression of Trkb.Conclusions:Our results suggest that 14 days of ZSTX acupuncture can significantly improve post-stroke limb spasm.Meanwhile,the pathogenesis of post-stroke limb spasm and the efficacy of ZSTX acupuncture involve metabolic pathways of neurotransmitters,and electro-acupuncture can treat post-stroke limb spasm by regulating BDNF/Trkb-KCC2 signaling pathway.展开更多
BACKGROUND Although the spasm provocation test(SPT)can diagnose coronary spasms,it would be helpful if it could also predict their occurrence.AIM To investigate whether coronary spasms can be predicted using changes i...BACKGROUND Although the spasm provocation test(SPT)can diagnose coronary spasms,it would be helpful if it could also predict their occurrence.AIM To investigate whether coronary spasms can be predicted using changes in intracoronary artery pressure measured using a pressure wire during the SPT.METHODS Seventy patients underwent SPTs with pressure-wire measurement of intracoronary artery pressure.During each SPT,the pressure wire was advanced into the distal portion of the right coronary artery(RCA)and left anterior descending coronary artery,and the ratio of intracoronary pressure to aortic pressure(Pd/Pa)was monitored.Coronary spasm was defined as an arterial narrowing of>90%in response to the administration of acetylcholine(ACh),with chest symptoms and/or ischemic electrocardiographic changes.ACh was administered to the RCA at low,moderate,or high doses of 20,50,or 80μg,respectively,and to the left coronary artery(LCA)at low,moderate,or high doses of 50,100,or 200μg,respectively.Coronary arteries with coronary spasms at low doses of ACh were defined as group L,and those with coronary spasms at moderate or high doses were defined as group MH.Those who did not occur coronary spasms at any ACh dose were designated as group N.RESULTS Among the 132 coronary arteries assessed using a pressure wire,there were 49 in group N,25 in group L,and 58 in group MH.Baseline Pd/Pa was the lowest in group L(P=0.001).The decrease in the Pd/Pa between baseline to low doses of ACh was lower in group MH than in group N(P<0.001).A receiver-operating characteristics analysis showed that the cutoff baseline Pd/Pa value for predicting group L was 0.95,with a sensitivity of 0.600(15/25)and a specificity of 0.713(76/107)and that the cutoff value of Pd/Pa from baseline to low doses of ACh for predicting group MH was−0.04,with a sensitivity of 0.741(43/58)and a specificity of 0.694(34/49).CONCLUSION These findings suggest that indices of intracoronary pressure during SPT may be useful means for predicting the occurrence of coronary spasms.展开更多
BACKGROUND Peroral endoscopic myotomy(POEM)has been widely performed as a standard treatment for achalasia;however,its efficacy and safety for treating distal esophageal segmental spasms induced by cancer metastasis r...BACKGROUND Peroral endoscopic myotomy(POEM)has been widely performed as a standard treatment for achalasia;however,its efficacy and safety for treating distal esophageal segmental spasms induced by cancer metastasis remain unknown.CASE SUMMARY A 72-year-old male was referred to our hospital and complained of progressive dysphagia for two years.Endoscopy revealed a 2 cm long segment esophageal stenosis with intact mucosa and normal cardia.Computed tomography showed a right upper lung mass,and pathology of the right pleural effusion confirmed the diagnosis of right upper lung adenocarcinoma with multiple rib and mediastinal lymph node metastases and right malignant pleural effusion.Individualized POEM was performed first to alleviate dysphagia,and the final diagnosis was changed to esophageal muscle metastasis arising from lung adenocarcinoma.After treatment,the patient could eat soft solid food and received multiple rounds of pembrolizumab-combination chemotherapy.The patient’s progression-free survival was approximately 16 months.Long stable disease was obtained during the 24-month follow-up.CONCLUSION The incidence of distal esophageal segmental spasms induced by muscular metastasis arising from lung adenocarcinoma is extremely low.Individualized POEM can effectively improve a patient’s nutritional status before subsequent chemotherapy can be combined with immune checkpoint inhibitors.展开更多
No recommended guidelines currently exist for the therapeutic concentration or dose of botulinum toxin type A （BTXA） injected into the muscle to treat limb spasticity. Therefore, in this randomized controlled trial,...No recommended guidelines currently exist for the therapeutic concentration or dose of botulinum toxin type A （BTXA） injected into the muscle to treat limb spasticity. Therefore, in this randomized controlled trial, we explored the safety and efficacy of two concentrations and two doses of BTXA in the treatment of spastic toot after stroke to optimize this treatment in these patients. Eligible patients （n = 104） were randomized into four groups. The triceps surae and tibialis posterior on the affected side were injected with BTXA at one of two doses （200 U or 400 U） and two concentrations （50 U/mL or 100 U/mL）. 2he following assessments were conducted before as well as 4 days and 1, 2, 4, and 12 weeks after treatment： spasticity, assessed using the modified Ashworth scale; basic functional mobility, assessed using a timed up and go test; pace, assessed using a 10-meter timed walking test; and the ability to walk, assessed using Holden＇s graded scale and a visual analog scale. The reported results are based on the 89 patients that completed the study. We found significant differences for the two doses and concentrations of BTXA to improve the ability of patients to walk independently, with the high-dose/low-concentration combination providing the best effect. Onset and duration of the ameliorating effects of BTXA were 4-7 days and 12 weeks, respectively. Thus, BTXA effectively treated foot spasms after stroke at an optimal dose of 400 U and concentration of 50 U/mL.展开更多
基金the National Social Science Foundation of China(No.21BTQ106),the Natural Science Foundation of Beijing(No.7222187),and the Key Project of Innovation Cultivation Fund of the Seventh Medical Center of PLA General Hospital(No.qzx-2023-1)。
文摘Behavioral scoring based on clinical observations remains the gold standard for screening,diagnosing,and evaluating infantile epileptic spasm syndrome(IESS).The accurate identification of seizures is crucial for clinical diagnosis and assessment.In this study,we propose an innovative seizure detection method based on video feature recognition of patient spasms.To capture the temporal characteristics of the spasm behavior presented in the videos effectively,we incorporate asymmetric convolutions and convolution–batch normalization–ReLU(CBR)modules.Specifically within the 3D-ResNet residual blocks,we split the larger convolutional kernels into two asymmetric 3D convolutional kernels.These kernels are connected in series to enhance the ability of the convolutional layers to extract key local features,both horizontally and vertically.In addition,we introduce a 3D convolutional block attention module to enhance the spatial correlations between video frame channels efficiently.To improve the generalization ability,we design a composite loss function that combines cross-entropy loss with triplet loss to balance the classification and similarity requirements.We train and evaluate our method using the PLA IESS-VIDEO dataset,achieving an average seizure recognition accuracy of 90.59%,precision of 90.94%,and recall of 87.64%.To validate its generalization capability further,we conducted external validation using six different patient monitoring videos compared with assessments by six human experts from various medical centers.The final test results demonstrate that our method achieved a recall of 0.6476,surpassing the average level achieved by human experts(0.5595),while attaining a high F1-score of 0.7219.These findings have substantial significance for the long-term assessment of patients with IESS.
基金support of this research by the Mount Sinai Health System and the THANC Foundation
文摘The intimate anatomical relationship of the facial nerve to the parotid parenchyma has a significant influence on the presenting signs and symptoms, diagnosis and treatment of parotid neoplasms.However, to our knowledge, hyperactivity of this nerve, presenting as facial spasm, has never been described as the presenting sign or symptom of a parotid malignancy.We report a case of carcinoma arising in a recurrent pleomorphic adenoma of the left parotid gland(i.e., carcinoma ex pleomorphic adenoma) that presented with hemifacial spasms.We outline the differential diagnosis of hemifacial spasm as well as a proposed pathophysiology.Facial paralysis, lymph node enlargement, skin involvement, and pain have all been associated with parotid malignancies.To date the development of facial spasm has not been reported with parotid malignancies.The most common etiologies for hemifacial spasm are vascular compression of the ipsilateral facial nerve at the cerebellopontine angle(termed primary or idiopathic)(62%), hereditary(2%), secondary to Bell's palsy or facial nerve injury(17%), and hemifacial spasm mimickers(psychogenic, tics, dystonia, myoclonus, myokymia, myorthythmia, and hemimasticatory spasm)(17%).Hemifacial spasm has not been reported in association with a malignant parotid tumor but must be considered in the differential diagnosis of this presenting symptom.
基金funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081)National Key Research and Development Program of China(No.2016YFC1000707).
文摘Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adrenocorticotropic hormone(ACTH)is one of the first-line and effective treatment plans for IESS,it has serious side effects and is not sufficiently effective.Methods A retrospective study of the clinical outcomes of ACTH combined with magnesium sulfate(MgSO_(4))therapy for IESS in two hospital centers was conducted.The major outcome of the single and combined treatment was evaluated by changes in seizure frequency and improvements in hypsarrhythmia electroencephalography(EEG).To reduce the confounding bias between the two groups,we used SPSS for the propensity score matching(PSM)analysis.Results We initially recruited 1205 IESS patients from two Chinese hospitals and treated them with ACTH combined with MgSO_(4) and ACTH alone.Only 1005 patients were enrolled in the treatment(ACTH combined with MgSO_(4):744,ACTH:261),and both treatment plans had a more than 55% response rate.However,compared to patients treated with ACTH alone,those patients treated with ACTH combined with MgSO_(4) had better performance in terms of the seizure frequency and hypsarrhythmia EEG.After PSM,the two groups also showed significant differences in responder rate[70.8%(95% confidence interval,CI)=66.7%–74.8%)vs.53.8%(95%CI=47.4%–60.2%),P<0.001],seizure frequency(P<0.001)and hypsarrhythmia EEG resolution(P<0.001).Notably,multivariate analysis revealed that the lead time to treatment and the number of antiseizure medications taken before treatment were two factors that may affect the clinical outcome.Patients with less than 3 months of lead time responded to the treatment much better than those with>3 months(P<0.05).In addition,the overall incidence of adverse reactions in the ACTH combined with MgSO_(4) group was much lower than that in the ACTH group(31.4%vs.63.1%,P<0.001).During the treatment,only infection(P=0.045)and hypertension(P=0.025)were significantly different between the two groups,and no baby died.Conclusion Our findings support that ACTH combined with MgSO_(4) is a more effective short-term treatment protocol for patients with IESS than ACTH alone,especially for those patients with short lead times to treatment.
基金supported by grants from the Shenzhen Health and Family Planning Commission(SZSM201812005)the Shenzhen Key Discipline Fund(SZXK033)the Shenzhen Science and Technology Plan Project(JCY20210324135211030).
文摘Background In this study,we aimed to assess the efcacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome(IESS)and examine the factors infuencing the post-surgical outcomes.Methods The clinical data of 30 children(18 males and 12 females)with epileptic spasms(ES)who underwent surgery at the Epilepsy Center of Shenzhen Children’s Hospital between June 2018 and June 2020 were retrospectively analyzed.Post-surgical outcomes were evaluated using the Engel Epilepsy Surgery Outcome Scale.Scalp electroencephalography and developmental quotient were assessed preoperatively and postoperatively.Univariate analysis and exact logistic regression analyses were used to identify the factors afecting the postoperative efcacy.Results Of the 30 patients who underwent surgical resection,22(73.3%)achieved Engel’s classⅠ-Ⅱoutcomes.Additionally,motor and cognitive functions improved in 14 patients(46.7%).The development of 12(40%)patients remained at the preoperative development level.The median number of antiseizure medications taken preoperatively was 5.27(range 2-10),which decreased to 1.90(range 0-4)at the last follow-up.Seizure duration,etiology,positive positron emission tomography-magnetic resonance imaging(PET-MRI),surgery type,and lesion location were signifcantly correlated with the postoperative efcacy(P<0.05).Positive PET/MRI fndings and lesion location predicted independently the postoperative outcomes.Permanent impairments of motor or language function were rare,with only two cases reporting hydrocephalus and one reporting hemiplegia.Conclusions Surgery is an efective treatment option for children with IESS.Early referral and comprehensive preoperative evaluation are essential for identifcation of surgically treatable structural lesions.The primary surgically treatable cause is cortical malformation,followed by perinatal brain injury.Hemispheric disconnection is a preferred surgical approach.Positive PET/MRI fndings and lesion location predicted the postoperative outcomes.
基金National Natural Science Foundation of China(81401073 to XP)National Key R&D Program of China(2022YFC2503806)and NSFC(8237203)to YLProvince Natural Science Foundation of Shaanxi Province(2021SF-094 to XW).
文摘Backgroud Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms(LOS).However,there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms(TS),including seizures,video-electroencephalogram(V-EEG),synchronous electromyography(EMG)and follow-up data.Methods To investigate the characteristics of TS,we prospectively collected the clinical data,including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020.The patients were prescribed anti-seizure medications(ASMs)and followed up for 2–7 years.Results The average age of epilepsy onset was 48.06±16.07 months(range:25 to 88 months).Among the enrolled patients,22 patients presented with mild intellectual deficits.During the 24-h video-EEG monitoring,an average of 6.94 TS events(range:3 to 21)were recorded,and these TS seizures often occurred in clusters.In addition to TS,26 patients experienced generalized tonic-clonic seizures(GTCS),atypical absence seizures,myoclonic seizure,and epileptic spasms.None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording.A total of 28 patients showed normal EEG backgrounds.Interictal epileptic discharges,including slow waves(SW),spike/sharp slow waves(SSW),and spikes,often displayed multifocally.Notably,two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine(OXC),which was associated with normalization of the EEG.Conclusions It is difficult to classify the patients with TS as any existing epileptic syndromes,which were distinct from West syndrome or Lennox-Gastaut syndrome.TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.
文摘BACKGROUND Thiocolchicoside(TCC),a muscle relaxant with anti-inflammatory properties,is often used alongside nonsteroidal anti-inflammatory drugs(NSAIDs)to treat musculoskeletal pain.This synergistic approach leverages the complementary mechanisms of action,providing more effective relief for conditions such as arthritis,muscle spasms,and soft tissue injuries.AIM To evaluate the comparative efficacy of the combination therapy of TCC and NSAIDs vs NSAID monotherapy in pain management.METHODS A systematic search of PubMed and Google Scholar databases through October 2024 was performed to evaluate the effectiveness of combined TCC and NSAID therapy vs NSAIDs alone.A retrospective analysis of electronic medical records from India spanning 3 years(2020-2023)examined treatment patterns and focused on clinical outcomes including pain relief,functional improvement,and adverse effects.Key metrics for assessment included visual analog scale scores and hand-to-floor distance,with secondary outcomes assessing patient satisfaction and adverse event(AE)incidence.RESULTS A systematic literature search revealed seven studies,involving 1137 subjects,aligning with the eligibility criteria from a total of 833 hits.Combination therapy using parenteral TCC with NSAIDs significantly reduced pain intensity[standardised mean difference(SMD):-1.33,P<0.001]and enhanced functional improvement(SMD:-1.08,P<0.001)compared to NSAIDs alone.Patients on combination therapy are 6.7 times more likely to experience over 30%pain relief and 5.2 times more likely to achieve over 50%pain relief.Post surgery pain reduction and patient satisfaction were notably higher in the combination group[odds ratio(OR)=10.14,P<0.001].There were no significant differences in mild/moderate AE rates between the groups(OR=1.30,P=0.378).CONCLUSION Evidence indicates that multimodal therapy,including parenteral TCC with NSAIDs,provides quicker and effective pain relief,reduces muscle spasms,and improves hand-to-floor distance compared to using NSAIDs or TCC alone.
文摘Background Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS). Methods The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS. Results Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic. Age of seizure onset was 5.36 ± 1.48 months. Spasms were controlled within a week in most of the patients. At the last follow-up, EEG returned to normal in 8. Psychomotor development was normal in 6, mild delay in 3, severe delay in 2. Of the 17 patients with TPM-control IS, 10 were cryptogenic/idiopathic. The age of seizure onset was 5.58 ± 2.09 months. All patients were controlled within a month. At the last follow-up, EEG was normal in 10. Psychomotor development was normal in 8, mild delay in 5, severe delay in 4. Genetic analysis did not show any meaningful results. Conclusions The clinical characteristics and disease courses of pyridoxine responsive IS and TPM-control IS were similar, which possibly clued for a same pathogenic mechanism. Pyridoxine should be tried first in all IS patients, even in sympto-matic cases. If patients were not responsive to pyridoxine, TPM could be tried.
基金This study was supported by the grants from the National Natural Science Foundation of China （No. 30770747）, the Beijing Municipal Natural Science Foundation （No. 7081002, No. 7042024） and the Capital Development Foundation of Beijing （No. 2003-2007）.
文摘Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however, ACTH therapy is ineffective for some patients. The variations in the receptor genes can contribute to antiepileptic drug resistance. This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. Methods We screened for variations in the promoter and coding region of the MC2R gene in 91 Chinese patients with infantile spasms and 94 controls, using PCR and a direct sequencing method. The frequencies of the genotypes, alleles and reconstructed haplotypes were analyzed in the cases and controls. The association between ACTH responsiveness and genetic variations of the MC2R gene was also assessed. Results Four single nucleotide polymorphisms （SNPs） were identified in the MC2R promoter, one of which was a novel specimen at position-2 from the transcription start site ATT, -2T〉C. Three SNPs （rs1893220, rs2186944 and -2T〉C） showed a significant difference between the cases and controls （P 〈0.05 for all）. The frequency of the common TCCT haplotype carrying four-SNP major alleles was significantly lower in the cases （39%） than in the controls （60%） （P=-0.00003）. The homozygous carriers of the TCCT haplotype had a much lower relative risk than the non-carriers （RR=O.42, 95%C/ 0.26-0.70, P=-0.0001）. ACTH responsiveness was strongly associated with the TCCT haplotype （P=-0.000082）. Compared with non-carriers of the TCCT haplotype, the homozygous and heterozygous carriers were more responsive to ACTH therapy （P=0.0002; P=-0.0003, respectively）. Conclusions Our results indicated that the TCCT haplotype in the MC2R promoter is strongly associated with the responsiveness of the ACTH therapy performed on patients with infantile spasms. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms.
基金This study was supported by the Sanming Project of Medicine in Shenzhen(SZSM201812005)Shenzhen Key Medical Discipline Construction Fund(No.SZXK033)Shenzhen Fund for Guangdong Provincial High Level Clinical Key Specialties(No.SZGSPO12).
文摘Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we investigated the efficacy of KD therapy in the treatment of infantile spasms.Methods:In this retrospective,multicenter cohort study,clinical data from main epilepsy centers were analyzed.Patients were classified into different groups according to age,type of drug and whether glucocorticoid was used before initiation of KD.Results:From October 2014 to March 2020,481 patients(308 males and 173 females)with infantile spasms were treated with the KD therapy.The age of the patients ranged from 2 months to 20 years,with a mean age of 1 year and 10 months.The number of anti-seizure medications(ASMs)used before KD initiation ranged 0-6,with a median of 3.In different time from initiation(1,3,6,and 12 months),the rates of seizure freedom after KD were 6.9,11.6;16.0 and 16.8%,respectively(x^(2)=27.1772,P<0.0001).There was a significant difference in the rate of seizure freedom between 3 months and 1 month(x^(2)=6.5498,P=0.0105)groups,and 6 months and 3 months(x^(2)=3.8478,P=0.0498)groups,but not between 12 months and 6 months(x^(2)=0.1212,P=0.7278)groups.The rates of effectiveness were 44.7;62.8,49.1 and 32.0%(x^(2)=93.2674,P<0.0001),respectively.The retention rates were 94.0,82.5,55.7 and 33.1%(x^(2)=483.7551,P<0.0001),correspondingly.The rate of effectiveness and the retention rate of KD were significantly different among the 1,3,6 and 12 months.KD treatment was the first choice in 25 patients(5.2%),55 patients(11.4%)started KD after the failure of the first ASM,158 patients(32.8%)started KD after the failure of the second ASM,157 patients(32.6%)started KD after the failure of the third drug,and 86 patients(17.9%)started KD after the failure of the fourth and more.The KD effect was not related to the number of ASMs used before KD startup(P>0.05).Two hundred and eighteen patients(45.3%)failed to respond to corticotropin or glucocorticoid before initiation.There was no significant difference in the effectiveness rate at different time points between the group of KD therapy after glucocorticoid failure and the group after non-hormone failure (x^(2)=0.8613,P=0.8348).The rate of adverse events of KD in 1,3,6,and 12 months after KD initiation were 22.3,21.7,16.8 and 6.9%,respectively.The adverse events mainly occurred during the first 3 months of KD,and the main adverse events were gastrointestinal disturbance and constipation.Conclusions:The efficacy of the KD treatment for infantile spasms was not affected by age,medication,and glucocorticoid use before initiation.KD is one of the effective treatments for infantile spasms.
基金This research was partially supported by National Natural Science Foundation of China(Nos.62171028,62001026)the Natural Science Foundation of Beijing,China(No.7222187)+2 种基金the Medical Big Data and Artificial Intelligence Research and Development Project of the Chinese PLA General Hospital(No.2019MBD-004)the Epilepsy Research Fund of China Association Against Epilepsy(No.CU-B-2021-11)the Nutrition and Care of Maternal&Child Research Fund Project of Guangzhou Biostime Institute of Nutrition&Care(No.2021BINCMCF030).
文摘Background Even though adrenocorticotropic hormone(ACTH)demonstrated powerful efficacy in the initially successful treatment of infantile spasms(IS),nearly half of patients have experienced a relapse.We sought to investigate whether features of electroencephalogram(EEG)predict relapse in those IS patients without structural brain abnormalities.Methods We retrospectively reviewed data from children with IS who achieved initial response after ACTH treatment,along with EEG recorded within the last two days of treatment.The recurrence of epileptic spasms following treatment was tracked for 12 months.Subjects were categorized as either non-relapse or relapse groups.General clinical and EEG recordings were collected,burden of amplitudes and epileptiform discharges(BASED)score and multiscale entropy(MSE)were carefully explored for cross-group comparisons.Results Forty-one patients were enrolled in the study,of which 26(63.4%)experienced a relapse.The BASED score was significantly higher in the relapse group.MSE in the non-relapse group was significantly lower than the relapse group in theγband but higher in the lower frequency range(δ,θ,α).Sensitivity and specificity were 85.71%and 92.31%,respectively,when combining MSE in theδ/γfrequency of the occipital region,plus BASED score were used to distinguish relapse from non-relapse groups.Conclusions BASED score and MSE of EEG after ACTH treatment could be used to predict relapse for IS patients without brain structural abnormalities.Patients with BASED score≥3,MSE increased in higher frequency,and decreased in lower frequency had a high risk of relapse.
基金The National Key Research and Development Program of China(2016YFC1000707)
文摘Importance:Infantile spasm(IS)is a kind of refractory epilepsy.The first-line treatments for IS are adrenocorticotropic hormone(ACTH),oral corticosteroids,and vigabatrin.Objective:This study aimed to evaluate the efficacy of magnesium sulfate and ACTH(MgSO_(4)+ACTH)combination therapy in patients with IS who failed first-line treatments.Methods:In this retrospective study,the clinical data of patients with IS who failed first-line treatments were collected in the Chinese PLA General Hospital.Patients received MgSO_(4)+ACTH combination therapy after first-line treatments failed.The course of treatments was 2 weeks.The therapeutic dose of ACTH and MgSO_(4)was 2.5 U·kg^(-1)·d^(-1)and 0.25 g·kg^(-1)·d^(-1),respectively.Results:A total of 229 patients with IS who failed the first-line treatments were collected.At the end of the MgSO_(4)+ACTH combination treatment,the seizure-free rate was 48.5%(111/229),and the resolution of hypsarrhythmia on electroencephalogram(EEG)was 72.1%(165/229).About 21.4%(49/229)of patients showed side effects,including infectious diseases,hypokalemia,and diarrhea.Interpretation:For patients with IS who failed first-line treatments,in terms of the seizure-free rate and resolution of hypsarrhythmia on EEG,MgSO_(4)+ACTH combination therapy can be considered.
基金the National Natural ScienceFoundation of China(No.81671297).
文摘Background:Infantile spasms(IS)are the most common childhood epileptic encephalopathy.Focal cortical dysplasia(FCD)and gray matter heterotopias(GH)are common structural causes of IS.The recommended first-line treatment for IS patients with structural causes is surgical intervention,according to the International League Against Epilepsy(ILAE)commission guidelines.However,there is currently no consensus on appropriate timings of surgery.Case presentations:Two structural IS cases are presented here:one was caused by FCD,and the other by GH.Both patients exhibited recurrent seizures at the age of 2 months,had poor responses to various antiepileptic drugs(AEDs)and displayed severe mental and motor developmental retardation.Seizure types included focal seizures and spasms.Brain magnetic resonance imaging showed abnormal gray signal or suspicious FCD lesions that coincided with the origin of the focal seizures.The patients underwent lesion resection before the age of 6 months.Follow-up observation showed that seizures of both patients were completely controlled several days after the surgery.All AEDs were gradually reduced in dosage within 1 year,and the mental and motor development almost returned to normal.Conclusion:Early resection of lesions in structural IS patients has benefits of effectively controlling convulsions and improving developmental retardation.Infants at several months of age can well tolerate craniotomy,and their cognitive development is more likely to return to normal after early surgery.
文摘To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-propeller protein-associated neurodegeneration (BPAN),is caused by mutation of the WDR45 gene.To date,59 novel WDR45 mutations have been reported.The literature indicates that it is difficult to detect the disorder in early childhood because no specific clinical or imaging features exist. In this report,we describe the case of a 9-month-old male Chinese infant with a novel mutation (c.977-1 C >T)in the WDR45 gene.
基金Supported by Natural Science Foundation of Shandong Province,No.81700472Clinical+X Project Fund of Binzhou Medical College,No.BY2021LCX11and Binzhou Medical University Science and Technology Program Projects,No.BY2019KJ13.
文摘BACKGROUNDA mid-esophageal diverticulum is an outpouching located in the midsection ofthe esophagus, posterior to the bifurcation of the right and left bronchi. The conditionis characterized by an outward protrusion of the inner esophageal wall. Midesophagealdiverticula are relatively rare and may coexist with diffuse esophagealspasm. However, the potential esophageal motility disorders associated withthese lesions are frequently overlooked in clinical practice. The use of endoscopicinterventions may offer a novel approach for the alleviation of dysphagia associatedwith this condition.CASE SUMMARYWe present a case of a 74-year-old woman with dysphagia, diagnosed with midesophagealdiverticulum and diffuse esophageal spasm. Due to her physical condition,submucosal tunneling endoscopic septum division (STESD) was initiallyperformed for the diverticulum. One month later, the esophageal spasm wastreated using per-oral endoscopic myotomy (POEM). This combined treatmentsignificantly improved her dysphagia, and she was discharged.CONCLUSIONSTESD and POEM are effective and safe for the treatment of dysphagia caused bymid-esophageal diverticula with diffuse esophageal spasm.
文摘To the Editor:Hemimasticatory spasm(HMS)is a relatively rare type of unilateral trigeminal nerve(TN)motor branch dysfunction,whose pathogenesis is currently unknown.The clinical manifestations of HMS are involuntary paroxysmal convulsions of the muscles innervated by the associated unilateral trigeminal motor branch.Recently,the academic community has proposed two etiologies for HMS:TN compression and central lesion theory.[1]Clinically,HMS must be distinguished from oromandibular dystonia,facial muscle spasm,multiple sclerosis pain spasm,and focal epilepsy.Generally,electromyography(EMG)can confirm the diagnosis.The current outcomes of multidrug and botulinum toxin injection treatments remain unsatisfactory.Only patients with cranial neurovascular conflicts have an excellent response to microvascular decompression(MVD)surgery.
文摘Epileptic spasm(ES)is one of the most common types of seizures in children.It is primarily characterized by brief axial contractions lasting less than 2 s and recurring in short clusters.It usually occurs in children of 3 to 12 months of age,although it can also occur after the age of 1 year.In general,children with ES develop other symptoms of epilepsy,such as tonic,tonic-clonic,or focal seizures,after 3 to 5 years of age.ES in children is often damaging and usually results in developmental regression.First-line treatments for spasm seizures include adrenocorticotropic hormone(ACTH)and vigabatrin.However,many patients fail to respond to these medications,and continued to have spasms associated with progressive neurodevelopmental degeneration.Therefore,it is important to consider whether children with drug resistance meet surgical indications to consider surgical treatment in such conditions.In this study,we reviewed and summarized the importance of preoperative evaluation in order to provide surgical options for treatment of children with ES.
基金the National Key R&D Program of China(Grant No.2019YFC1709900)National Natural Science Foundation of China(Grant No.71804022)+1 种基金Natural Science Foundation of Henan province(Grant No.232300420256)Medical technologies R&D Program of Henan province(Grant No.LHGJ20220348).
文摘Background:To investigate the effects of acupuncture on post-stroke limb spasm model rats and the underlying mechanism.Methods:A total of 50 Sprague-Dawley rats were randomly divided into three groups,Control group(10),Model group(20)and Zhishen Tiaoxing(ZSTX)acupuncture group(20).Middle cerebral artery occlusion was conducted in SD rats to establish post-stroke limb spasm rats,which were treated with ZSTX acupuncture.Behavioral assays were determined by the Narrow ally test,the limb muscle tension was detected by the BL-420S test system,and infarct volume was assessed after the cerebral infarction by 2,3,5-triphenyltetrazolium chloride staining.Heterogeneous neurotransmitterγ-aminobutyric acid(GABA)and its receptors GABAA and GABAB in the cerebral cortex of the infarct area were determined by immunofluorescence assay.The release of Trkb and K-Cl cotransporter isoform 2 was detected by an immunofluorescence double labeling study.Western Blot was utilized to measure the expression of BDNF and Trkb.Results:The results showed that the behavioral assays in post-stroke limb spasm rats were significantly improved by the treatment of ZSTX acupuncture.14 days of ZSTX acupuncture can effectively inhibit muscle tone and decrease Infarct volume,which was measured with BL-420S biological function experiment system and triphenyltetrazolium chloride.Meanwhile,the results of Double-Label Immunofluorescence Assays showed that ZSTX acupuncture improved the expression of GABA,GABAA,GABAB,BDNF,and K-Cl cotransporter isoform 2.Double-Label Immunofluorescence Assays and WB results showed that 14 days ZSTX acupuncture declined the expression of Trkb.Conclusions:Our results suggest that 14 days of ZSTX acupuncture can significantly improve post-stroke limb spasm.Meanwhile,the pathogenesis of post-stroke limb spasm and the efficacy of ZSTX acupuncture involve metabolic pathways of neurotransmitters,and electro-acupuncture can treat post-stroke limb spasm by regulating BDNF/Trkb-KCC2 signaling pathway.
文摘BACKGROUND Although the spasm provocation test(SPT)can diagnose coronary spasms,it would be helpful if it could also predict their occurrence.AIM To investigate whether coronary spasms can be predicted using changes in intracoronary artery pressure measured using a pressure wire during the SPT.METHODS Seventy patients underwent SPTs with pressure-wire measurement of intracoronary artery pressure.During each SPT,the pressure wire was advanced into the distal portion of the right coronary artery(RCA)and left anterior descending coronary artery,and the ratio of intracoronary pressure to aortic pressure(Pd/Pa)was monitored.Coronary spasm was defined as an arterial narrowing of>90%in response to the administration of acetylcholine(ACh),with chest symptoms and/or ischemic electrocardiographic changes.ACh was administered to the RCA at low,moderate,or high doses of 20,50,or 80μg,respectively,and to the left coronary artery(LCA)at low,moderate,or high doses of 50,100,or 200μg,respectively.Coronary arteries with coronary spasms at low doses of ACh were defined as group L,and those with coronary spasms at moderate or high doses were defined as group MH.Those who did not occur coronary spasms at any ACh dose were designated as group N.RESULTS Among the 132 coronary arteries assessed using a pressure wire,there were 49 in group N,25 in group L,and 58 in group MH.Baseline Pd/Pa was the lowest in group L(P=0.001).The decrease in the Pd/Pa between baseline to low doses of ACh was lower in group MH than in group N(P<0.001).A receiver-operating characteristics analysis showed that the cutoff baseline Pd/Pa value for predicting group L was 0.95,with a sensitivity of 0.600(15/25)and a specificity of 0.713(76/107)and that the cutoff value of Pd/Pa from baseline to low doses of ACh for predicting group MH was−0.04,with a sensitivity of 0.741(43/58)and a specificity of 0.694(34/49).CONCLUSION These findings suggest that indices of intracoronary pressure during SPT may be useful means for predicting the occurrence of coronary spasms.
基金Supported by The Young and Middle-aged Mainstay Talent Training Program of Fujian Provincial Health System,China,No.2017-ZQN-16The Science and Technology Project of Fujian Province,China,No.2020Y0068The Joint Funds for the Innovation of Science and Technology of Fujian Province,China,No.2023Y9414.
文摘BACKGROUND Peroral endoscopic myotomy(POEM)has been widely performed as a standard treatment for achalasia;however,its efficacy and safety for treating distal esophageal segmental spasms induced by cancer metastasis remain unknown.CASE SUMMARY A 72-year-old male was referred to our hospital and complained of progressive dysphagia for two years.Endoscopy revealed a 2 cm long segment esophageal stenosis with intact mucosa and normal cardia.Computed tomography showed a right upper lung mass,and pathology of the right pleural effusion confirmed the diagnosis of right upper lung adenocarcinoma with multiple rib and mediastinal lymph node metastases and right malignant pleural effusion.Individualized POEM was performed first to alleviate dysphagia,and the final diagnosis was changed to esophageal muscle metastasis arising from lung adenocarcinoma.After treatment,the patient could eat soft solid food and received multiple rounds of pembrolizumab-combination chemotherapy.The patient’s progression-free survival was approximately 16 months.Long stable disease was obtained during the 24-month follow-up.CONCLUSION The incidence of distal esophageal segmental spasms induced by muscular metastasis arising from lung adenocarcinoma is extremely low.Individualized POEM can effectively improve a patient’s nutritional status before subsequent chemotherapy can be combined with immune checkpoint inhibitors.
基金supported by a grant from the Shandong Science and Technology Development Plan Project in China,No.2012YD18031
文摘No recommended guidelines currently exist for the therapeutic concentration or dose of botulinum toxin type A （BTXA） injected into the muscle to treat limb spasticity. Therefore, in this randomized controlled trial, we explored the safety and efficacy of two concentrations and two doses of BTXA in the treatment of spastic toot after stroke to optimize this treatment in these patients. Eligible patients （n = 104） were randomized into four groups. The triceps surae and tibialis posterior on the affected side were injected with BTXA at one of two doses （200 U or 400 U） and two concentrations （50 U/mL or 100 U/mL）. 2he following assessments were conducted before as well as 4 days and 1, 2, 4, and 12 weeks after treatment： spasticity, assessed using the modified Ashworth scale; basic functional mobility, assessed using a timed up and go test; pace, assessed using a 10-meter timed walking test; and the ability to walk, assessed using Holden＇s graded scale and a visual analog scale. The reported results are based on the 89 patients that completed the study. We found significant differences for the two doses and concentrations of BTXA to improve the ability of patients to walk independently, with the high-dose/low-concentration combination providing the best effect. Onset and duration of the ameliorating effects of BTXA were 4-7 days and 12 weeks, respectively. Thus, BTXA effectively treated foot spasms after stroke at an optimal dose of 400 U and concentration of 50 U/mL.
