Background: 5q spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by progressive muscle weakness. Nusinersen, the first disease-modifying therapy for SMA, has demonstrated efficacy in both clinical trials and real-world studies. However, the precise timing of therapeutic onset following Nusinersen administration remains unclear. Methods: This retrospective study analyzed clinical data from patients with genetically confirmed 5q SMA who received Nusinersen treatment for at least six months at Peking University First Hospital. Motor function was assessed using standardized scales prior to each dose. Results: In total, 74 patients were screened, of whom 62 were enrolled, including 14 with type 1, 29 with type 2, and 19 with type 3 SMA. Thirty-two patients completed motor function assessments. After six months of treatment, 62.5% achieved a primary clinically meaningful response (an increase of ≥4 points in CHOP-INTEND or ≥3 points in HFMSE). Seven patients (21.9%) attained or regained motor milestones. Median improvements were 6 points in CHOP-INTEND (p = 0.001), 4 points in HFMSE (p = 0.003), and 1.5 points in RULM (p = 0.045). Further analysis indicated that the available median time to treatment response was approximately 2 months. In patients with severe scoliosis or prior spinal surgery, ultrasound-guided lumbar puncture demonstrated a high success rate (94.9%). Regarding safety, intrathecal injection-related adverse events occurred in eight patients (12.9%), and no adverse events led to treatment discontinuation. Conclusions: During the loading phase, Nusinersen provides clinical benefit for the majority of patients, with a median time to therapeutic response for monitoring of approximately 2 months. Ultrasound-guided intrathecal administration is the preferred approach for individuals with complicated spinal conditions. These findings may help guide clinical expectations for physicians, patients, and caregivers.

Febrile infection-related epilepsy syndrome (FIRES) is a rare and severe epileptic encephalopathy characterized by refractory seizures following a febrile infection. FIRES is a subtype of new-onset refractory status epilepticus with an unknown etiology. Tocilizumab is an interleukin-6 receptor antagonist which has been recommended as an anti-inflammatory treatment for the acute phase of FIRES. However, the efficacy of tocilizumab for the chronic phase of FIRES remains unclear. This study aimed to analyze the efficacy and safety of tocilizumab in the treatment of pediatric patients with FIRES during the chronic phase. We conducted a retrospective cohort study in pediatric patients with FIRES during the chronic phase who received tocilizumab treatment. The primary outcome was the response rate at 16 weeks after tocilizumab initiation, defined as the proportion of pediatric patients who achieved a 50

Objective To delineate the genotype and phenotype of epilepsy patients with GPAA1-related congenital disorders of glycosylation (CDG). Methods Whole-exome sequencing was performed to all epilepsy patients suspected with genetic etiology from June 2017 to October 2025. Clinical data of five patients with GPAA1 variants from our study and 19 patients from published studies were collected and analyzed. Results This study collected five epilepsy patients with biallelic GPAA1 variants. Eight different GPAA1 variants were identified. All patients exhibited global developmental delay and hypotonia. Seizure occurred at 3-12 months of age. All five patients had myoclonic seizures, four patients had 2 or more seizure types. Cranial MRI revealed cerebellar atrophy in one patient. All patients had drug-resistant epilepsy. When combining data from this study and published studies, 28 variants were identified, including 19 missense variants, 5 frameshift variants, 3 intronic splicing variants, and one nonsense variant. The clinical manifestations included global developmental delay (100%), hypotonia (95.8%), and epilepsy (83.3%). 60% of patients experienced seizure onset before the age of one. The main seizure types were generalized tonic-clonic seizures (GTCS) (82.4%) and myoclonic seizures (70.6%). Febrile sensitivity was presented in 66.7% of patients. 60.9% of patients had cerebellar atrophy. Conclusions The phenotypes of patients with GPAA1 variants included global developmental delay, hypotonia, and epilepsy. The main seizure types were GTCS and myoclonic seizures, and two thirds of patients’ seizures were characterized by febrile sensitivity. Cerebellar atrophy occurred in 60.9% of patients.

Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused mainly by SCN1A variants, several other genes have been implicated in DS-like phenotype. DS and DS-like patients were collected from February 2005 to December 2023. Clinical data and genetic results were collected and analyzed. 1215 patients were enrolled. SCN1A variants were identified in 1061 patients (87.3

ABSTRACT The 7‐year‐old girl had recurrent anemia for 6 years, showing large cell anemia. The parent‐derived AMN double heterozygous mutation was detected to confirm the diagnosis of IGS. The hemogram was normal after intramuscular injection of vitamin B12, and there were no other complications.

AIM:To explore the phenotypic spectrum and refine the genotype-phenotype correlation of YWHAG-related epilepsy. METHOD:This study used a retrospective cohort design to evaluate the clinical data of 15 patients with epilepsy and YWHAG variants in our Chinese cohort (nine males, six females; median age: 6 years 4 months; range: 1 year 6 months-12 years 8 months) and 40 patients with epilepsy with YWHAG variants from published studies (21 males, 19 females; median age: 10 years; range: 3 years-67 years). RESULTS:In our cohort, seven variants were de novo and five were new. Seizure onset for 14 of 15 patients occurred within the first 2 years of life. Nine of 15 patients had a history of febrile seizures. Seizure types included generalized tonic-clonic seizures (GTCS) and myoclonic seizures. Developmental delay was present in 11 of 15 patients. Three patients were diagnosed with febrile seizures plus, one was diagnosed with myoclonic epilepsy in infancy, one had infantile epileptic spasm syndrome, and 10 had developmental and epileptic encephalopathy that could not be further classified into a specific epilepsy syndrome. Seizures were controlled in 7 of 15 patients; most were treated with valproate and levetiracetam. Collectively, in our cohort and from published studies, most variants (38 of 55, 69.1%) were located in the highly conserved triad (HCT) domain of Arg132-Arg57-Tyr133. Mild phenotypes were more frequently observed in patients with variants located outside the HCT domain, with a significant difference of 70.6% versus 27.0% (p < 0.01). INTERPRETATION:Most patients with YWHAG variants were diagnosed during infancy. The most common seizure types were GTCS and myoclonic seizures. The phenotypic spectrum of epilepsy ranged from mild febrile seizures to severe developmental delay and epileptic encephalopathy. Most variants were localized in the HCT domain; variants residing outside the HCT domain were correlated with milder phenotypes.

BACKGROUND AND OBJECTIVE:To understand the prevalence and risk factors of acute symptomatic seizures (ASSs) and epilepsy in children with central nervous system inflammatory demyelinating diseases (CIDDs). METHODS:The cohort of children with CIDDs in pediatric department of Peking University First Hospital between January 2013 and June 2024 were followed up. We evaluated and compared the incidence of ASSs among patients with different CIDDs. The correlation between clinical information and the occurrence of ASS was further analyzed. The incidence of epilepsy was analyzed in patients with disease course longer than 1 year. RESULTS:Of 204 patients with CIDDs, 97 were female (47.5 %), and the age at onset was 6.75 (IQR: 4.50, 9.73) years, with a total of 598 attacks. Of 204 patients, 75 (36.8 %) experienced ASSs, and the incidence of ASSs were significantly higher in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) (39/94, 41.5 %) and seronegative CIDDs (31/72, 43.1 %). Among 598 attacks, 143 (23.9 %) were accompanied by ASSs. ASSs were more likely to occur in attacks manifested as acute disseminated encephalomyelitis (ADEM) and cerebral cortical encephalitis (CCE) phenotypes. Fever (OR=0.453) and cortical involvement on brain MRI (OR=0.191) were independent risk factors for ASSs. Prevalence of epilepsy was 9.9 % (19/192). Patients with multiple demyelinating attacks were more likely to develop epilepsy. CONCLUSION:The incidence of ASS in children with CIDDs was 36.8 %, which was more common in children with MOGAD or seronegative CIDDs. ASSs were more likely to occur in attacks presented with ADEM and CCE. Prevalence of epilepsy was 9.9 %.

ObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients. Clinical data of 15 epilepsy patients in current study and 21 epilepsy patients from published studies were collected and analyzed.ResultsIn this study, 15 patients were identified with 13 de novo PPP3CA variants. Among these, seven frameshift variants and one gene inversion between intron 11 and intron 13 (including exons 12 and 13) were novel. 80% of patients experiencing seizure onset before the age of one. The seizure types observed included epileptic spasms (93.3%), tonic seizures (46.7%), myoclonic seizures (46.7%), focal seizures (40.0%), atypical absence seizures (13.3%), generalized tonic-clonic seizures (6.7%) and myoclonic atonic seizures (6.7%). All patients exhibited global developmental delay. MRI abnormalities were noticed in 9 patients, including widened subarachnoid space, bilateral ventricular width, poor myelination of white matter, and dysplasia of the corpus callosum. 80% specifically diagnosed with infantile epileptic spasms syndrome (IESS). When combining data from this study and published studies, 66.7% of patients experienced seizure onset before the age of one, and 77.8% were diagnosed with IESS. In patients with variants located in the catalytic domain (CD), 45.4% patients exhibited multiple seizure types, while 45.4% patients presented only with epileptic spasms. In contrast, among patients with variants in regulatory domain (RD), 87% had multiple seizure types and only 8.7% had epileptic spasms alone. Additionally, 45.5% of patients with CD variants had comorbid autism spectrum disorders, compared to 13% patients with RD variants. Recurrent variants included p.His92Arg, p.Asp234Glu, p.Glu282Lys, and p.Ser419Asnfs*31.ConclusionThis study is the first to report a gene inversion in PPP3CA-related DEE. Patients with only epileptic spasms were more prevalent in those with CD variants, compared to those with RD variants. Conversely, patients with multiple seizure types were more common among those with RD variants. The most frequently diagnosed epileptic syndrome was IESS. Additionally, comorbid ASD were more commonly observed in patients with CD variants than in those with RD variants.

We summarize the copy number variations (CNVs) and phenotype spectrum of infantile epileptic spasms syndrome (IESS) in a Chinese cohort. The CNVs were identified by genomic copy number variation sequencing. The CNVs and clinical data were analyzed. 74 IESS children with CNVs were enrolled. 35 kinds of CNVs were identified. There were 11 deletions and 5 duplications not reported previously in IESS, including 2 CNVs not reported in epilepsy. 87.8% were de novo, 9.5% were inherited from mother and 2.7% from father. Mosaicism occurred in one patient with Xq21.31q25 duplication. 16.2% (12/74) were 1p36 deletion, and 20.3% (15/74) were 15q11-q13 duplication. The age of seizure onset ranged from 17 days to 24 months. Seizure types included epileptic spasms, focal seizures, tonic seizures, and myoclonic seizures. All patients displayed developmental delay. Additional features included craniofacial anomaly, microcephaly, congenital heart defects, and hemangioma. 29.7% of patients were seizure-free for more than 12 months, and 70.3% still had seizures after trying 2 or more anti-seizure medications. In conclusion, CNVs is a prominent etiology of IESS. 1p36 deletion and 15q duplication occurred most frequently. CNV detection should be performed in patients with IESS of unknown causes, especially in children with craniofacial anomalies and microcephaly.

目的 总结SYNGAP1基因变异患儿神经系统表型谱及基因变异特点.方法 回顾性收集2015年5月至2022年3月在北京大学第一医院儿科门诊就诊的23例SYNGAP1基因变异患儿临床资料,对其临床表型、基因变异特点及治疗预后进行分析.结果 23例SYNGAP1基因变异患儿中,男7例、女16例,23例均为新生变异,其中错义变异9例,无义变异7例,移码变异6例,剪切位点变异1例.23例均有发育落后,其中21例(91.3％,21/23)患儿有癫痫发作,癫痫发作起病年龄为8个月～5岁(中位起病年龄2岁1月).发作类型包括不典型失神8例,眼睑肌阵挛伴或不伴失神6例,肌阵挛发作6例,失张力发作3例,痉挛发作2例,全面强直阵挛发作1例.脑电图提示背景活动慢于同龄儿,发作间期广泛性放电22例,无异常放电1例.23例头颅磁共振成像均未见异常.癫痫综合征表型诊断为眼睑肌阵挛伴失神4例,婴儿痉挛症1例,Doose综合征1例,热性惊厥1例.3例(13％,3/23)有孤独症样表现.21例有癫痫发作的患儿中,20例口服抗癫痫发作药物(ASM),7例发作控制1年以上,其中用丙戊酸6例,左乙拉西坦3例,拉莫三嗪2例,托吡酯1例,其中4例患儿联合2～3种ASM.13例发作未控制,1例热性惊厥患儿未用药.结论 SYNGAP1基因变异均为新生变异,变异类型主要包括错义、无义、插入及缺失变异,少数为剪切位点变异.SYNGAP1基因变异相关临床特点为均有发育落后;90％以上有癫痫发作,少数有孤独症样表现.癫痫多在儿童早期起病,发作类型多样,常见发作类型为不典型失神、眼睑肌阵挛伴或不伴失神和肌阵挛发作.癫痫综合征表型包括眼睑肌阵挛伴失神、婴儿痉挛症和Doose综合征,少数表型为热性惊厥.癫痫治疗应选择广谱ASM.

AIM:To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS).METHODS:Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pathogenic variants tested by next-generation sequencing (NGS) were enrolled.RESULTS:Mosaic variants were detected in seventeen disease-associated genes from 20 probands, 5 paternal, and 6 maternal parents. The frequency of mosaicism was 11.74% (31/264). Mosaicism in 11 genes was identified from 20 probands with the mutant allelic fractions (MAFs) of 12.95-38.00% in autosomal dominant genes. Five paternal mosaicisms were identified in genes with a MAF of 6.30-20.99%, and six maternal mosaic individuals with a MAF of 2.07-21.90%. Only four mosaic parents had milder seizure history. The affected sibling had the same phenotype consistent with that of the proband, who inherited the variant of SLC1A2 or STXBP1 from their unaffected mosaic mothers, respectively.INTERPRETATION:Mosaic phenomenon is not rare in families with epilepsy. Phenotypes of mosaic parents were milder or normal. Mosaicism detection is helpful to identify the mutation origin and it provides a theoretical basis for prenatal diagnosis of family reproduction. ADS is a reliable way of mosaicism detection for clinical application.

ObjectiveThis study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the potential prospects for personalized medicine. MethodsThrough a multicenter collaboration in China, we analyzed the genotype-phenotype correlation and antiseizure medication (ASM) of patients with GABRG2-related epilepsy. The three-dimensional protein structure of the GABRG2 variant was modeled to predict the effect of GABRG2 missense variants using PyMOL 2.3 software. ResultsIn 35 patients with GABRG2 variants, 22 variants were de novo, and 18 variants were novel. The seizure onset age was ranged from 2 days after birth to 34 months (median age: 9 months). The seizure onset age was less than 1 year old in 22 patients (22/35, 62.9%). Seizure types included focal seizures (68.6%), generalized tonic-clonic seizures (60%), myoclonic seizures (14.3%), and absence seizures (11.4%). Other clinical features included fever-sensitive seizures (91.4%), cluster seizures (57.1%), and developmental delay (45.7%). Neuroimaging was abnormal in 2 patients, including dysplasia of the frontotemporal cortex and delayed myelination of white matter. Twelve patients were diagnosed with febrile seizures plus, eleven with epilepsy and developmental delay, two with Dravet syndrome, two with developmental and epileptic encephalopathy, two with focal epilepsy, two with febrile seizures, and four with unclassified epilepsy. The proportions of patients with missense variants in the extracellular region and the transmembrane region exhibiting developmental delay were 40% and 63.2%, respectively. The last follow-up age ranged from 11 months to 17 years. Seizures were controlled in 71.4% of patients, and 92% of their seizures were controlled by valproate and/or levetiracetam. ConclusionThe clinical features of GABRG2-related epilepsy included seizure onset, usually in infancy, and seizures were fever-sensitive. More than half of the patients had cluster seizures. Phenotypes of GABRG2-related epilepsy were ranged from mild febrile seizures to severe epileptic encephalopathies. Most patients with GABRG2 variants who experienced seizures had a good prognosis. Valproate and levetiracetam were effective treatments for most patients.

ObjectiveThe aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A variants.MethodsThe SCN2A variants were detected by next-generation sequencing. All patients were followed up at a pediatric neurology clinic in our hospital or by telephone.ResultsIn 72 patients with SCN2A variants, the seizure onset age ranged from the first day of life to 2 years and 6 months. The epilepsy phenotypes included febrile seizures (plus) (n = 2), benign (familial) infantile epilepsy (n = 9), benign familial neonatal-infantile epilepsy (n = 3), benign neonatal epilepsy (n = 1), West syndrome (n = 16), Ohtahara syndrome (n = 15), epilepsy of infancy with migrating focal seizures (n = 2), Dravet syndrome (n = 1), early infantile epileptic encephalopathy (n = 15), and unclassifiable developmental and epileptic encephalopathy (n = 8). Approximately 79.2% (57/72) patients had varying degrees of developmental delay. All patients had abnormal MRI findings with developmental delay. 91.7% (55/60) patients with de novo SCN2A variants had development delay, while only 16.7% (2/12) patients with inherited SCN2A variants had abnormal development. 83.9% (26/31) SCN2A variants that were located in transmembrane regions of the protein were detected in patients with development delay. Approximately 69.2% (9/13) SCN2A variants detected in patients with normal development were located in the non-transmembrane regions. Approximately 54.2% (39/72) patients were seizure-free at a median age of 8 months. Oxcarbazepine has been used by 38 patients, and seizure-free was observed in 11 of them (11/38, 28.9%), while 6 patients had seizure worsening by oxcarbazepine. All 3 patients used oxcarbazepine and with seizure onset age > 1 year presented seizure exacerbation after taking oxcarbazepine. Valproate has been used by 53 patients, seizure-free was observed in 22.6% (12/53) of them.ConclusionThe phenotypic spectrum of SCN2A-related epilepsy was broad, ranging from benign epilepsy in neonate and infancy to severe epileptic encephalopathy. Oxcarbazepine and valproate were the most effective drugs in epilepsy patients with SCN2A variants. Sodium channel blockers often worsen seizures in patients with seizure onset beyond 1 year of age. Abnormal brain MRI findings and de novo variations were often related to poor prognosis. Most SCN2A variants located in transmembrane regions were related to patients with developmental delay.

Objective To analyze the genotype and clinical features of children with epilepsy associated with CACNA1A variants. Methods The genotype, phenotype and neuroimaging features of 27 patients with CACNA1A variants in the pediatrics department of Peking University First Hospital from September 2013 to February 2022 were analyzed. Results There were 9 males and 18 females, whose age ranged from 6 months to 19 years old（medium: 4 years old and 3 months）. There were 22 missense variants, three nonsense variants and two frameshift variants. 25 variants were de novo. Age at seizure onset ranged from 1 day to 8 years old and 6 months（medium: 14 months）.Multiple seizure types were observed, including focal seizures in 20 patients, generalized tonic–clonic seizures（GTCS）in 7 patients, absence seizures in 5 patients, myoclonic seizures in 3 patients, epileptic spasms and tonic seizures in 1patient respectively. 16 patients had status epilepticus, including focal motor status epilepticus in 14 patients and generalized motor status epilepticus occurred in two patients. Two patients had acute encephalopathy. All 27 patients showed developmental delay. Interictal electroencephalogram showed generalized discharges in 8 patients, multi-focal discharges in 4 patients and focal discharges in 11 patients. Unilateral cortical atrophy occurred in 5 patients after focal motor status epilepticus. Two patients had bilateral cerebral atrophy after acute encephalopathy. Cerebellar atrophy in2 patients. The age of last follow-up ranged from one year old to 17 years old and 3 months. Six patients were seizure-free,whereas 21 still had seizures. Conclusion The seizure onset age of patients with CACNA1A variants usually began in infancy. The common seizure types include focal seizures, GTCS and absence seizures. Seizures are prone to status epilepticus, mainly focal motor status epilepticus. Patients usually had developmental delay. Unilateral cortical atrophy may occur after focal motor status epilepticus. Epilepsy associated with CACNA1A variants is usually refractory.

ObjectiveTo analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity.MethodsClinical data and peripheral blood samples of 11 male mosaic patients were collected and analyzed in our study. The VAF of the PCDH19 gene from peripheral blood was quantified using amplicon-based deep sequencing. Additional 20 mosaic male patients with PCDH19-RE were collected from the published literature, with 10 patients whose VAFs of the PCDH19 gene were available for analytic purposes.ResultsIn our cohort of 11 patients, 10 variants were identified, and four were novel. The VAF of the PCDH19 gene from peripheral blood ranged from 27 to 90%. The median seizure onset age was 6 months (range: 4–9 months). Clinical manifestations included cluster seizures (100%), fever sensitivity (73%), focal seizures (91%), developmental delay/intellectual disability (DD/ID, 82%), and autistic features (45%). Thirty-one mosaic male patients collected from our cohort and the literature developed seizures mostly (87%) within one year of age. Variant types included missense variants (42%), truncating variants (52%), splice variants (3%), and whole PCDH19 deletion (3%). Among 21 patients with a definite VAF from our cohort and the literature, nine had a low VAF ( ≤ 50%) and 12 had a high VAF (> 50%). Seventy-five percent of variants from the high VAF group were missense, whereas 89% of those from the low VAF group were truncations. The median seizure onset age was 6 months in the low VAF group and 9 months in the high VAF group (p = 0.018). Forty-four percent (4/9) of patients from the low VAF group achieved seizure-free for ≥1 year, whereas none of the 12 patients from the high VAF group did (p = 0.021). DD/ID was present in 83% (10/12) of the high VAF group and 56% (5/9) of the low VAF group (p = 0.331).ConclusionThe predominant variant types were truncating and missense variants. Missense variants tended to have higher VAFs. Patients with a high VAF were more likely to have a more severe epileptic phenotype. Our findings shed light on the phenotypic implications of VAF in mosaic males with PCDH19-RE.

Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

近年来,免疫检查点抑制剂(ICI)广泛应用于肺癌的治疗中,ICI引起的不良反应亦逐渐被认识.其中,ICI相关肝毒性(IMH)多表现为丙氨酸氨基转移酶及天门冬氨酸氨基转移酶升高,ICI相关肝硬化性肝毒性报道少见.本文报道1例本科室收治的70岁男性肺鳞状细胞癌(LSCC)病例,该患者应用帕博利珠单抗(200 mg d1 Q3w)维持治疗期间出现腹胀、纳差、乏力、肝功能异常及肝硬化改变,结合患者病史、症状及检验检查结果诊断为ICI相关肝硬化性肝毒性,经口服泼尼松(60 mg qd)治疗,患者腹胀等症状消失、肝功能及肝硬化改变部分好转.通过报道该例ICI治疗相关不良反应,为临床一线医生处理相关问题时提供了一种思路.

To explore the phenotypic spectrum and refine the genotype–phenotype correlation of DYNC1H1‐related epilepsy.

Background: To analyze the efficacy and safety of dendritic cell - cytokine - induced killer (DC-CIK) immunotherapy combined with chemotherapy for colorectal cancer. Method: A retrospective analysis was conducted in 116 patients from February 2012 to December 2017, who were divided into postoperative adjuvant chemotherapy group alone, combined DC-CIK immunotherapy group, advanced cancer palliative care group, and palliative care + DC-CIK immunotherapy group, to evaluate cellular immune function, disease-free survival(DFS) and overall survival(OS). Results: In the adjuvant therapy and palliative care group, the percentages of CD3+, CD8+ and NK cells after treatment were significantly lower than before, whereas in the other two groups given DC-CIK immunotherapy, the percentages of CD3+, CD8+, NK and NKT cells after treatment were all higher than before, with a significant increase compared with the chemotherapy group (P < .05). DFS (42.4 ± 5.26 m) in the group receiving postoperative adjuvant chemotherapy + DC-CIK immunotherapy was significantly longer than that (23.5 ± 2.79 m) in the group only given postoperative adjuvant chemotherapy (P < .05). OS in the group receiving palliative care + DC-CIK immunotherapy was slightly longer than that in the group only given palliative care for advanced cancer (29 m vs 26 m, P > .05).Conclusion: Combination with DC-CIK immunotherapy could effectively improve cellular immune function. Postoperative adjuvant chemotherapy in combination with DC-CIK immunotherapy could significantly prolong DFS, but palliative care in combination with DC-CIK immunotherapy did not significantly prolong OS in patients with advanced cancer.

目的 分析轻度胃肠炎伴良性婴幼儿惊厥(BICE)和患儿肠道内微生物的变化间的相关性.方法 回顾分析2017年1月至2018年12月在我院诊治的BICE患儿40例,作为研究组,将2019年1月至12月我院诊治的40例单纯轻度胃肠炎患儿作为对照组,两组均行粪便轮状病毒抗原检测、相关病菌检测及肠黏膜屏障功能检测,记录试验数据,并进行比对分析.结果 研究组及对照组轮状病毒感染率分别为47.5％、15.0％;粪便内大肠杆菌、肠球菌、乳酸杆菌、双歧杆菌数量及DAO、D-乳酸、NO水平,研究组均高于对照组(P＜0.05)差异有统计学意义.结论 肠道微生物改变可影响BICE发生及发展,轮状病毒及肠内益生菌减少可促使BICE病情发展,损坏肠黏膜屏障功能.