Objective To analyze the clinical characteristics of narcolepsy in children with obesity,and to e-valuate the impact of obesity on narcoleptic children clinically. Methods Forty cases first diagnosed as narcolepsy were recruited in the study who to see doctors at the Department of Neurology,Children's Hospital of Capital Institute of Pediatrics,from July 2012 to January 2015. According to diagnostic criteria for obesity by the body mass index(BMI) growth curve for the Chinese children and adolescents,they were divided into the obese group and the nonobese group. The general clinical data of 2 groups were analyzed,and the related metabolic indexes and the whole night polysomnog-raphy(PSG)of 2 groups were studied. Results In this group,male versus female 3: 1,obesity was found in 21 cases (52. 5% )and nonobesity was found in 19 cases(47. 5% )from the samples. The mean BMI of all patients was (21. 55 ± 3. 11)kg/ m2 . The average BMI of the obese group was(23. 09 ± 2. 46)kg/ m2 ,and BMI of the non - obese group was(19. 85 ± 2. 89)kg/ m2 . Obese children were younger at the onset of disease and by the time of diagnosis age [(7. 94 ± 2. 22)years old,(8. 76 ± 2. 36)years old]than nonobese children[(10. 75 ± 3. 10)years old,(12. 51 ± 2. 88)years old]. The fasting blood glucose and blood lipid in all patients were normal,and there was no significant difference between 2 groups. The total sleep time,sleep efficiency and the ratio of rapid eye movement(REM)phase of the obese group[(397. 45 ± 53. 76)min,(68. 70 ± 8. 90)% ,(18. 37 ± 4. 39)% ]were significantly lower than those of the non - obese group[(449. 95 ± 86. 49)min,(76. 58 ± 13. 60)% ,(22. 19 ± 6. 34)% ]. According to the sleep structure,the percentage of stageⅠnon rapid eye movement(NREM)sleep in the obese group[(20. 90 ± 6. 38)% ] was more than that in non - obese group[(16. 26 ± 4. 22)% ]. There was no difference between the percentage of stageⅡNREM sleep in the obese group[(42. 59 ± 5. 52)% ]and the non - obese group[(38. 54 ± 8. 74)% ]. Stage Ⅲ + Ⅳ(slow wave sleep)NREM sleep ratio in the obese group[(18. 14 ± 6. 97)% ]was significantly lower than that in the non - obese group[(22. 60 ± 5. 69)% ]. Conclusions Obesity is one of the most common comorbids in narcolepsy, which affects more than 50% of narcoleptic children,mostly younger at disease onset. The narcolepsy children with obe-sity has total sleep time decreased,sleep efficiency reduced and sleep structure disorder is more obvious. To improve the realization of obesity in narcolepsy children and early treatment is the key to the success of the therapy.

[Objective]To evaluate the role of mature cumulus cells from oocyte-cumulus complex(OCC)in in-vitro maturation(IVM)and establish a new culture technique which is convenient to carry out.[Methods]The cumulus cells of OCC were cut off and dispersed by 1 mL syringe.The cumulus cells were co-cultured with the immature oocytes retrieved from the COH cycles after they adherent to the bottom of the dish.The immature oocytes were experienced IVM procedures in different culture media.They were divided into 3 groups(the oocytes at germinal vesicle stage from one woman were allotted to the same group randomly).Group 1(solution A):basic culture medium+human follicular fluid(hFF);Group 2(solution B):solution A+ cumulus cells(OCC);Group 3(solution C):solution A+ OCC+ follicle stimulating hormone(FSH)+ epidermal growth factor (EGF).Then,the maturation rate,fertilization rate and formation rate of available embryo were observed.[Results]In 113 treatment cycles,298 immature oocytes were performed IVM with solution A,B,and C.The difference for 24 hour maturation rates among 3 groups wag statistically significant(A:45.2%,B:61.7%,C:78.2%,P＜0.05).There was no statistical difference for 25～48 hour maturation rates and normal fertilization rates of mature oocytes.The differences of cleavage rates and rescued embryo rates between group 1 and 2,group 1 and 3 were statistically significant(P＜0.05).The formation rates of available embryo showed an increasing trend from group 1,2,to 3.[Conclusion]After being dispersed by simply beat upon with syringe and adherent culture,the mature cumulus eells from mature OCCs in COH cycles,together with growth factors in the follicular fluid or extraneously supplemented,could promote the IVM of immature oocyte.

Objective To explore the clinical characteristics,diagnosis,treatment and outcomes of anti-N-methyl-D-aspartate receptor(anti-NMDAR) encephalitis in children.Methods Six children diagnosed as anti-NMDAR encephalitis were recruited at the Department of Neurology,Capital Institute of Pediatrics,from December 2011 to April 2013.The data of clinical characteristics and laboratory examinations were retrospectively analyzed.All the children had long-term follow-ups and the prognosis was assessed.Results (1) Age and course of the disease at the time of the admission:the mean age of the 6 patients (2 female) was 3 years and 5 months,ranging from 2 years and 2 months to 6 years and 8 months.The course of the disease at the time of the admission ranged from 15 to 80 days,with a mean time of 39 days.(2)Clinical characteristics:5 cases had afebrile convulsion and 1 case had speech impairment at the onset of disease.Convulsion occurred in all the 6 cases,4 cases of whom had persistent convulsion,and 5 cases had impaired consciousness.All the 6 cases exhibited aphasia,and complicated with mental or emotional abnormalities,irritability or shouting.Five cases developed into sleep disorders such as sleep deprivation.Five cases had limb and facial involuntary movement,in which 2 cases had stereotyped action.Prominent autonomic nervous dysfunction including hidrosis was found in 1 case.(3) Laboratory examination:cerebrospinal fluid test was normal in 6 cases,and 1 case had slightly increased white blood cell level.Specific anti-NMDAR antibody was positive in serum and/or cerebrospinal fluid in the 6 cases.Electroencephalograph of the 6 cases showed slow wave background during lucid interval,and 5 cases had interictal epileptiform discharges.The skull MRI showed cerebral atrophy 4 cases,and 2 cases of them were complicated with encephalomalacia.No tumor was found in the patients.(4) Treatment and follow-ups:6 cases received gamma globulin or methylprednisolone or other immunotherapy.Three cases received combined therapy with Rituximab,1 case received plasmapheresis,and 1 case received Cyclophosphamide.Follow-ups lasted for 2 to 31 months.Three patients had clinical recovery,and varying degrees of neurological complications were found in 3 cases.Conclusions (1) Anti-NMDAR encephalitis is common in children.(2) The specificity of its clinical symptoms is not strong.The incidence of convulsion is high,and different degrees of consciousness disorders may occur in some of the severe patients.Degeneration of language function and emotional changes can be observed.Most pediatric patients have abnormal movement,and the symptoms of automatic nervous system are not prominent.(3) The disease can be confirmed by the specific anti-NMDAR antibody in the spinal fluid or plasma.(4) The time of clinical recovery is long,and an early immunotherapy is associated with a better prognosis.

AIM: To study the preventive effects of Keningfang decoction on the experimental influenza virus pneumonia in mice and its mechanism. METHODS: Fifty NIH mice were divided into five groups randomly (ten mice in each group), normal control group, model group, virazole treatment group, Keningfang I treatment group, Keningfang II treatment group. The FM 1 virus strain that kept in frozen condition were revived and cultured in chick embryo. The mice in every group that were lightly anesthetized by aether, and infected by dropping FM 1 15 LD 50 into the nose, except for the normal control group, by equal volume distilled water. Mice were treated with drugs or distilled water two days before the model was made (0 3 mL, 2 times a day). The mice were treated with drug for six days, then was killed, the lungs were collected, and kept in -70 ℃. HSP70 was measured in the lung tissue by Western blot. Pathologic changes of the mice lungs were observed under microscope. RESULTS: Compared with the normal control group, HSP70 in the other groups were increased significantly (P

Objective To analyze the clinical characteristics and genetic variation of megalencephalic leu-koencephalopathy with subcortical cysts(MCL),then to explore the genetic characteristics so as to help families by pro-viding genetic counseling. Methods The clinical data of the children and their family members were collected,and the peripheral blood DNA of the children and family members were extracted. Then,the MLC1 gene mutation in the children was detected by using the target sequence capture high-throughput sequencing technology and Sanger sequencing tech-nology. Results (1)MCL often presented abnormal head circumference in infants as the first symptom. The main clini-cal manifestations were hypoevolutism in motor development,retrogression of early school age,then the movement disor-der progressed and finally paralyzed;epilepsy was common in early childhood;head magnetic resonance imaging showed white matter in bilateral cerebral hemisphere diffusing abnormal signal with temporal lobe cystic change in the early stage,and then showed brain atrophy. (2)The gene results showed that the 2 girls with MLC had both c. 368C >T (p. Thr123Ile)and c. 353C > T (p. Thr118Met)complex heterozygous variation,which existed in the MLC1 gene. The girls′ father and a sister carried c. 368C > T (p. Thr123Ile),while the mother carried c. 353C > T (p. Thr118Met) heterozygous variation,all of whom were normal phenotypes. Conclusions MCL is one cause of hypoevolutism in motor development in children and abnormal head circumference of infants is usually the first symptom. The MLC1 gene c. 368C> T(p. Thr123Ile)is a pathogenic mutation for MLC,and may be another new pa-thogenic mutation.

Objective:To analyze the effect of comprehensive health management on the prognosis of children with type Ⅰ spinal muscular atrophy (SMA).Methods:Eighty patients with type Ⅰ SMA (39 males and 41 females) visited-Capital Institute of Pediatrics from January 2003 to December 2017, were enrolled in this case-control study retrospectively. They were divided into the health management group and the natural history group. Main statistical parameter, including demographic indicators, survival time, 2-year survival rate and incidence of complications were compared and analyzed. Patients were evaluated every 3-6 months. All data were processed by SPSS 19.0. Differences between the two groups were compared using rank sum test or chi square test. Survival analysis was performed by using Kaplan-Meier method, and survival difference test was performed by log-rank method.Results:Among 80 SMA patients, 14 cases (7 males and 7 females) were in the health management group and 66 cases (32 males and 34 females) in the natural history group. There was no statistically significant difference in gender ratio between the two groups (χ 2=0.01, P=0.918) . The ages of onset and death in the two groups were 2 (0-8) and 1 (0-14) month, 11 (5-17) and 6 (1-60) months, without statistically significant difference ( Z=0.91, 1.19; P=0.386, 0.116) . As of the follow-up date (June 2019) , 10 patients died and 4 survived in the health management group, while 62 (93.9%) died and 4 (6.1%) survived in the natural history group (χ 2=6.50, P=0.011) . The median survival time in the health management group was 12 months, and the 1, 2 and 3-year survival rates were 77.9%, 54.5% and 34.1%, respectively. The median survival time of the natural history group was 6 months, and the 1, 2 and 3-year survival rates were 48.5%, 15.2% and 7.6%, respectively. For the two groups, the difference in survival rates was statistically significant (χ 2=9.11 P=0.003). The incidence rate of pneumonia combined with respiratory failure in the health management group was lower than that in the natural history group. Conclusion:Active health management can improve the survival rate of type Ⅰ SMA patients, reduce the incidence of complications, and also improve the prognosis of patients.

Objective:To summarize the clinical manifestations, diagnosis, treatment and prognosis of acute flaccid myelitis (AFM) in children.Methods:Clinical characteristics of 4 AFM cases from Department of Neurology, Children′s Hospital Affiliated to Capital Institute of Pediatrics, from September 2018 to November 2022, were analyzed retrospectively.Results:The age of 4 children with AFM was 7 years, 4 years and 3 months, 7 years and 1 month, 6 years and 5 months, respectively. There were 2 boys and 2 girls. Prodromal infection status showed 3 children of respiratory tract infection and 1 child of digestive tract infection. The main manifestation was asymmetrical limb weakness after infection, and the affected limb range was from monoplegia to quadriplegia. Cranial nerve injury was involved in 1 child, no encephalopathy. Magnetic resonance imaging in the spinal cord of all 4 children showed long T1 and T2 signals, mainly involving gray matter. Cerebrospinal fluid cell-protein separation was observed in 2 children. Pathogen detected in 1 child pharyngeal swab was enterovirus D68. Antibody IgM to adenovirus was positive in the blood of 1 child. Antibody IgG against Echo and Coxsackie B virus were positive in the blood of another child. After glucocorticoid, human immunoglobulin or simple symptomatic treatment and at the same time under later rehabilitation training, muscle strength recovered to different degrees, but there were disabilities left in 3 children.Conclusions:AFM should be considered in children with acute and asymmetrical flaccid paralysis accompanied by abnormal magnetic resonance imaging signal in the central region of spinal cord, especially post-infection. The effective treatment is limited and the prognosis is poor.

Objective:To explore the distribution of the copy number of survival motor neuron gene 2 ( SMN2) and the transcript level of the full-length SMN2 ( fl-SMN2) transcript level in patients with type 1-3 spinal muscular atrophy (SMA), and to evaluate their influences on disease severity, progression, and prognosis. Methods:It was a retrospective study involving 78 therapy-naive SMA patients with SMN1 gene homozygous deletion who were diagnosed and treated in the Capital Institute of Pediatrics from January 2019 to December 2021.Cross-sectional clinical data, including age at onset, motor milestones, and complications were recorded.They were followed up for monitoring motor function degeneration and survival.The copy number of SMN2 and the transcript level of fl-SMN2 were detected.Differences between groups were compared by the Student′s t-test or One- Way ANOVA or Chi- square test.Kaplan-Meier analysis was used for survival analysis, and Kendall′ s tau- c was performed to assess the correlation of these two biomarkers with SMA phenotypes, age at onset, motor milestones, and survival. Results:Of the 78 SMA patients, there were 17 cases (21.8%) of type 1, 34 cases(43.6%) of type 2, and 27 cases(34.6%) of type 3.Seven cases(41.2%) type 1 SMA patients died, with a median survival time of 11 months, and no deaths were observed in type 2 and type 3 SMA patients.There was a significant difference in the median age at onset among SMA patients with 2, 3, and 4 copies of SMN2 (1.8, 12.0, and 24.0 months, respectively; F=4.943, P=0.01). The mean transcript level of fl-SMN2 in type 1, 2 and 3 SMA patients were 196.25±68.79, 331.21±108.79 and 455.69±122.27, respectively ( F=37.154, P<0.001). The survival rate of SMA with 2 SMN2 copies at 1, 2, and 5 years were 50.5%, 0, and 0, respectively, and their median survival age was 7 months.The survival rate of SMA with 3 and 4 SMN2 copies at 5 years were 97.4% and 100.0%, respectively.Moreover, a negative correlation was observed between the transcript level of fl-SMN2 and phenotype severity ( Kendall′ s tau- c=-0.444, P<0.001), and the transcript level of fl-SMN2 of the survival group was much higher than that of the death group (342.93±125.74 vs.212.14±92.31). More copies of SMN2 and higher transcript level of fl- SMN2 indicated more motor function acquisitions (head control, sitting and walking) ( P<0.001). In addition, there was a significant difference in the transcription level of fl-SMN2 between the undegenerated group and the degenerated group in sitting and standing ( F=5.432, P=0.023 and F=4.315, P=0.047, respectively). Conclusions:Both the copy number of SMN2 and the transcript level of fl-SMN2 are correlated with SMA severity, survival, and motor milestones, serving as valuable biomarkers for evaluating phenotypic severity of SMA.The transcript level of fl-SMN2 s may play an important role in the degeneration of sitting and standing.

Objective:To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA). Methods:Two male children with complicated SMA diagnosed at the Children′s Hospital Affiliated to Capital Institute of Pediatrics respectively in July 2021 and April 2022 due to delayed or retrograde motor development were selected as the study subjects. Clinical data of the children were collected. Primary culture of skin fibroblasts was carried out, and peripheral blood samples were collected from both children and their parents. Multiplex ligation-dependent probe amplification, combined long-range PCR and nested PCR, and Sanger sequencing were carried out to detect the copy number and variants of the SMN1 gene. Absolute quantitative real-time PCR, Western blotting and immunofluorescence were used to determine the transcriptional level of the SMN gene, expression of the SMN protein, and the number of functional SMN protein complexes (gems body), respectively. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Capital Institute of Pediatrics (Ethics No. SHERLLM2021009). Results:Child 1, a 1-year-old boy, was clinically diagnosed with type 1 SMA. Child 2, a 2-and-a-half-year-old boy, was clinically diagnosed with type 3 SMA. Both children were found to harbor a paternally derived SMN1 deletion and a maternally derived SMN1 gene variant, namely c. 824G>T (p.Gly275Val) and c. 884A>T (p.*295Leu). Compared with the normal controls and carriers, the levels of full-length SMN1 transcripts in their peripheral blood and skin fibroblast cell lines were significantly decreased ( P<0.05), and the levels of SMN protein normalized to that of β-actin, and the numbers of gems bodies in the primary fibroblast cells were also significantly lower ( P<0.05). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic (PS3+ PM3+ PM5+ PP3; PS3+ PM3+ PM4+ PP3). Following the diagnosis, both children had received nusinersen treatment. Although their motor function was improved, child 1 still died at the age of 2 due to severe pulmonary infection. The walking ability of child 2 was significantly improved, and his prognosis appeared to be good. Conclusion:Two cases of clinically complicated SMA have been confirmed by genetic testing and experimental studies, which has provided a reference for their accurate treatment.

Objective:To summarize the clinical characteristics and laboratory diagnostic methods of infant botulism caused by Clostridium botulinum type B. Methods:Clinical data of 3 infants with type B botulism who were admitted to Children′s Hospital Affiliated to Capital Institute of Pediatrics from May to November 2018 were retrospectively analyzed. Botulinum toxin was detected in fecal samples or fecal enrichment solution of the patients, and Clostridium botulinum was cultured and isolated from fecal samples. Results:The age of onset of the patients (two boys and one girl) was 3, 3 and 8 months old, respectively. Two cases had the onset in May and one case had the onset in November. There were two cases with mixed feeding and one case with breast feeding. One case′s family members engaged in meat processing. All of them were previously healthy. All the children presented with acute flaccid paralysis, cranial nerve involvement and difficult defecation. Two cases had secondary urinary tract infection. Electromyograms of two cases showed that action potential amplitude of the motor nerve were lower than those of their peers. After treatments including intravenous human immunoglobulin, respiratory tract management, urethral catheterization, nasal feeding, etc., three cases recovered completely 2 to 4 months later. Type B botulinum toxin was detected in the fecal diluent of one patient, and the TPGYT enrichment solution and cooked meet medium of the feces of 3 patients, respectively. Clostridium botulinum B was identified from the feces of 3 infants after culture, isolation and purification. Conclusions:Combined with typical clinical manifestations including acute flaccid paralysis, cranial nerve involvement symptoms and difficult defecation examination, infant botulism can be clinically diagnosed. The detection of fecal botulinum toxin and the culture and isolation of Clostridium botulinum are helpful for the diagnosis.