Objective:To analyze the clinical diagnosis,treatment,and prognosis of the patients with pyridoxine-dependent epilepsy(PDE)characterized by infantile epileptic spasm syndrome(IESS).Methods:A total of 75 PDE patients with ALDH7A1 variants were diagnosed at the Department of Pediat-rics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024,and five PDE patients with the phenotype of IESS were selected.The clinical manifestations,treat-ment,blood biochemistry,metabolic screening,electroencephalogram(EEG),brain magnetic resonance imaging(MRI),and gene testing results of the five PDE patients were analyzed.Results:Among the five patients diagnosed with PDE,three were female and two were male,and the phenotype was consistent with IESS.The age at the last follow-up was from one year and 3 months to 11 years and 9 months.All the five cases were delivered at term.Two cases had anoxia and asphyxia at birth,and three cases had normal birth history.The onset age of seizure ranged from one day to 4 months after birth.One case presented with epileptic spasms(ES),and three cases presented with focal seizure and ES.The other patient was started with ES,followed by multiple seizure types,including focal seizure and generalized tonic-clonic seizure,and developed epileptic status which caused secondary brain injury.The interictal EEG results showed hypsarrhythmia in three cases,generalized and multifocal discharges in one cases,and multifocal discharges in one case.No abnormalities were found in brain MRI in three cases,and secondary cerebral atrophy and hydrocephalus were observed in two cases during the course of the disease.Gene analysis confirmed that the five patients carried compound heterozygous variants of ALDH7A1,and two of them carried exon deletion variants.High dose pyridoxine treatment started at the end of 2 days,4 years,3 years,4 days.and 2 months after the onset of the disease.Up to the last follow-up,seizures of four cases were controlled,followed by normal EEG.One patient with brain atrophy had uncontrolled seizures and EEG remained abnormal.The neurodevelopment of the three patients were se-verely delayed,and two were mildly delayed.Conclusion:IESS could be a rare phenotype of PDE.High doses of pyridoxine can control or reduce the frequency of seizures.Delayed diagnosis and treatment,secondary brain injury,and the genotype,especially deletions variants,were associated with poor prognosis.

Renal cell carcinoma is one of the significant diseases endangering human health. Recent findings have shown that the human microbiome plays an important role in the occurrence and development of renal cell carcinoma, influencing its regression and treatment outcome. At present, microecological research on renal cell carcinoma are still in their initial stages, and their regulatory roles and specific mechanisms still need to be further explored. This article reviews the relationship between the human microbiome and renal cell carcinoma occurrence and development, as well as its role in diagnosis and therapies.

Enterotoxigenic Escherichia coli（ETEC）infection can induce watery diarrhea，leading to dehydration，electrolyte disturbance，and even death in severe cases. Recombinant B subunit/inactivated whole-cell cholera（rBS/WC）vaccine is effective in preventing ETEC infectious diarrhea. On the basis of the latest evidence on etiology and epidemiology of ETEC，as well as the effectiveness，safety，and health economics of rBS/WC vaccine，National Clinical Research Center for Child Health（The Children’s Hospital，Zhejiang University School of Medicine）and Zhejiang Provincial Center for Disease Control and Prevention invited experts to develop expert consensus on rBS/WC vaccine in prevention of ETEC infectious diarrhea. It aims to provide the clinicians and vaccination professionals with guidelines on using rBS/WC vaccine to reduce the incidence of ETEC infectious diarrhea.

Objective:To investigate the clinical and electroencephalographic characteristics of photosensitive occipital lobe epilepsy (POLE) in children.Methods:The clinical data, electroencephalogram (EEG), treatment and prognosis of 22 children with POLE in the Department of Pediatrics, Peking University First Hospital from January 2006 to December 2019 were retrospectively analyzed.Results:Among the 22 patients, 12 cases were female and 10 cases were male.There were 3 cases combined with mild mental retardation.Classified by seizure symptoms, only 3 patients complained of subjective symptoms of visual aura, and the common symptoms were eye movement in 11 patients, headache in 3 patients, vomiting in 6 patients and dizziness in 3 patients.All patients had focal seizures during the course of disease.Twenty patients had secondary bilateral tonic-clonic seizures, and 5 patients also had generalized myoclonic seizures.Interictal epileptiform discharges were monitored in EEG of all children, including pure focal discharges in 6 patients, pure generalized discharges in 10 patients, and coexistence of generalized and focal discharges in 6 patients.Photoparoxysmal responses were induced in 19 patients, including pure focal discharges in 4 patients, pure generalized discharges in 6 patients, and coexisting focal and generalized discharges in 9 patients.Photoconvulsive responses were induced in 16 patients, including focal seizures with occipital lobe onset or focal secondary to bilateral tonic-clonic seizures in 15 patients, and myoclonic seizures in 1 patient.Eighteen patients were treated with anti-seizure medications (ASMs) and followed up.The top 3 commonly used drugs were Valproic acid (12 patients), Levetiracetam (8 patients), and Lamotrigine (4 patients), and 13 cases had controlled seizures.Conclusions:The visual aura of POLE is not obvious, and the relationship between epilepticseizures and light stimuli in daily life should be actively inquired to avoid misdiagnosis or underdiagnosis of the syndrome.The EEG of POLE often visualizes the coexistence of focal and generalized discharges, which may be accompanied by generalized seizures.The coexistence phenomenon should be considered when ASMs are medicated during treatment, and odium channel blockers should be selected carefully.

Objective:To analyze the clinical phenotype and genotype characteristics of infantile spasm (IS) associated with UBA5 gene mutation. Methods:Four cases of IS caused by UBA5 gene variation diagnosed at the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were retrospectively analyzed.The clinical manifestations, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), treatment, and follow-up results were summarized. Results:In this study, 4 cases (3 males and 1 female) were clinically diagnosed with IS and carried complex heterozygous variation of UBA5 gene.Genetic analysis confirmed that a total of 6 different mutation sites were found, five of which were unreported.All the 4 cases presented with epileptic spasms at the age of 1 d to 8 months after birth, and 2 cases had focal seizures during the course of disease.The EEG of 4 cases showed hypsarrhythmia and cluster or isolated epileptic spasms were detected.Of the 3 patients who had brain MRI results, 2 cases showed nonspecific abnormalities and 1 case was normal.All the 4 patients had developmental delayed before seizure onset, and regressed to varying degrees and made slow progress after onset.One case had microcephaly, and 3 cases had hypertonia.At the last follow-up, the age of the 4 patients ranged from 7 months to 6 years and 4 months.All 4 patients were treated with multiple antiepileptic drugs, but none of them were under control. Conclusions:Children with IS associated with UBA5 gene variation have an early onset age, often accompanied by developmental delayed, microcephaly, dystonia, and refractory seizures.

Post-traumatic tetanus is the main type of non-neonatal tetanus.To reduce the incidence and mortality rateof tetanus and guide the primary medical institutions to prevent and control tetanus after trauma,the National Immunization Planning Technical Working Group of the Chinese Center for Disease Control and Prevention has compiled this document in the reference with Position Paper by World Health Organization,and the latest research progress both at home and abroad.The guidelines focus on the basic procedures for the prevention and treatment of post-traumatic tetanus,the application of tetanus vaccines and immune preparation,and pre-exposure immunization in high-risk populations of trauma.

Objective:To examine the effect of childhood abdominal obesity on abdominal obesity in adulthood.Methods:Based on data from the "China Health and Nutrition Survey (CHNS)" 1993-2011, the participants who were followed up at least once in childhood (7-17 years old) and adulthood (≥18 years old) were the potential eligible ones for the inclusion. The first follow- up data in childhood and the last follow-up data in adulthood were finally included in this study, and there were 1 366 participants (males: 61.4 %). Partial correlation analysis was used to examine the correlation of waist circumference in childhood with adult waist circumference. Cox regression model was used to examine the effect of abdominal obesity in childhood on abdominal obesity in adulthood. Results:The median follow-up of this cohort was 10.4 years. 36.4 % (28/77) of children with abdominal obesity remained abdominally obese in adulthood. The coefficient of partial correlation was moderate for association of childhood waist circumference with adult waist circumference ( r=0.32, P<0.001). The risk of abdominal obesity in adulthood was significantly increased in abdominal obese children ( HR=7.54, 95 %CI: 4.91-11.58) compared with children with normal waist circumference. Conclusion:Children with abdominal obesity significantly increases the risk of abdominal obesity in adulthood.

Objective: In this study we analyzed the genetic characteristics of echovirus 30 (E-30) VP1 gene sequences from Yunnan province isolated from viral meningitis (VM) cases in 2010-2013. Methods: RT-PCR and VP1 gene sequencing were done for 9 E-30 strains isolated from VM cases in 2010-2013. VP1 gene sequences of E-30 reference strains were downloaded from the GenBank and their nucleotide (nt) and amino acid (aa) diversities were calculated by MEGA 5.1 software, the phylogenetic tree was constructed and the genetic characteristics and molecular epidemiology were analyzed. Results: In 2010-2013, 9 strains of E-30 viruses were detected from 79 VM cases caused by echoviruses, accounting for 11.39%(9/79), the overall positive rate was 1.63%(9/553). Phylogenetic analysis revealed that E-30 strains can be divided into four genotypes (genotype A, B, C and D), and genotype D can be further divided into seven sub-genotypes. Nine Yunnan VM isolates were distributed in D7 sub-genotype, and can be further clustered into 3 branches: 5 strains isolated in 2010 were clustered in branch 1, it is evident that these viruses were responsible for an aseptic meningitis outbreak in Kunming in that year; one 2011 isolate, together with 2013 isolate and one isolate from healthy children in 2010 were clustered in branch 2, these two branches were Yunnan special branches, and two 2011 isolates had the highest homology with 2003 VM outbreaks′ strains isolated from Shandong, Jiangsu, and Zhejiang, showing that these strains may have the same evolutionary sources. Conclusions Nine Yunnan VM isolates were distributed in D7 sub-genotype, and these strains have different evolutionary sources, showing that at different times E-30 viruses in the same sub-genotypes branch might prevail in different areas.

Post-traumatic tetanus is the main type of non-neonatal tetanus. To reduce the incidence and mortality rate of tetanus and guide the primary medical institutions to prevent and control tetanus after trauma, National Immunization Planning Technical Working Group of the Chinese Center for Disease Control and Prevention has compiled this document in the reference with Position Paper by World Health Organization, the latest research progress from home and abroad. The guidelines focus on the basic procedures for the prevention and disposition of post-traumatic tetanus, the application of tetanus vaccines and immune preparation, and the pre-exposure immunization in high-risk populations of trauma.

Objective: To evaluate the population immunity to measles and explore the factors associated with measles susceptibility in Yunnan residents aged ≥20 years. Methods: 2 689 residents aged ≥20 years were selected by multistage stratified systematic randomized sampling in 252 villages of 42 counties in Yunnan Province between June and September in 2015. Each subject was surveyed by the same questionnaire, including general information, measles contained vaccine history, measles history, and 5 ml blood sample of each subject was collected. Serum IgG antibodies against measles virus were measured by ELISA. Positive was defined as the antibody concentration ≥250 mU/ml, and negative as <250 mU/ml. Non-conditional logistic regression model was used analyze the factors associated with measles susceptibility in adults. Results: Among 2 689 subjects, 1 214 were males (45.15%), and the overall positive rate of measles IgG antibody was 89.77%. Compared with subjects from the region where economic development was low, subjects from the region where economic development was moderate were likely to be susceptible to measles virus (OR=1.81, 95%CI: 1.33-2.47). Four age groups had higher risk of being susceptible to measles virus (compared with ≥40 years: 20-24 years old, OR=2.04, 95%CI: 1.26-3.31; 25-29 years old, OR=3.72, 95%CI: 2.37-5.86; 30-34 years old, OR=1.94, 95%CI: 1.22-3.09; 35-39 years old, OR=1.81, 95%CI: 1.07-3.05). Conclusion Our results suggest that the serological susceptibility in adults (20-39 years), especially adults from the regions where the economic development was moderate, should be concerned. The additional vaccination strategy targeting young adults is important for reducing the risk of measles infection.