Objective:To evaluate the efficacy and safety of rituximab in pediatric myasthenia gravis (MG).Methods:Case series study. The clinical manifestations, laboratory tests, treatment plans and prognosis of 27 pediatric MG patients treated with rituximab from June 2013 to June 2023 at Children′s Medical Center of Peking University First Hospital were retrospectively collected.Results:There were 5 males and 22 females in 27 MG children. The onset age was 2.1 (1.6, 4.8) years, ranging from 8 months to 11 years. The clinical classification included 20 children (74%) of ocular MG and 7 children (26%) of generalized MG. Seventeen children (63%) had positive MG-related pathogenic antibodies, including 17 children of anti-AchR antibody and 1 of them also had anti-MuSK antibody. Rituximab was used as first-line immunosuppressant in 13 children, second-line immunosuppressant in 13 children and third-line immunosuppressant in 1 child. Immunosuppressants used before rituximab including 8 children of cyclosporine, 3 children of tacrolimus, 1 child of azathioprine, 1 child of mycophenolate mofetil and 1 child of cyclosporine combined with azathioprine. Rituximab was used for at least half a year with a follow-up period of more than 12 months. At the last follow-up after rituximab treatment, all children achieved improved or above, 14 children (52%) achieved complete stable remission, 7 children (26%) achieved pharmacologic remission, 1 child (4%) achieved minimal manifestations, and 5 children (18%) improved. After rituximab treatment, 27 children all could reduce the immunomodulation therapy and shorten the course of glucocorticoid therapy, and 22 children (81%) had stopped the glucocorticoid therapy. Among the 14 children with poor efficacy of other immunosuppressants, rituximab had complete stable remission of 7 children. The most common adverse reaction was respiratory infection (4 children (15%)). Only 2 children had allergic reaction to rituximab and got better after symptomatic treatment.Conclusions:Rituximab has good efficacy and tolerance in pediatric MG. Early application of rituximab can improve the prognosis and shorten the course of glucocorticoid treatment.

Objective To understand the research hotspots and research trends about convolutional neural networks in the field of oncology imaging diagnosis by analyzing the characteristics of published literature at home and abroad over the past decade. Methods The SCI-E database was used as the data source to retrieve literature about convolutional neural networks in the field of oncology imaging diagnosis published from 2012 to 2022. The distribution characteristics of countries, institutions, journals, co-cited authors, and keywords of the studies were analyzed by CiteSpace software. Results A total of 1088 papers were eventually included, and they were mostly from China, the United States, and India. A total of 39 papers were published by Sun Yat-sen University, the research institution with the highest number of publications. Radiology Nuclear Medicine Medical Imaging was the journal with the highest number of publications. A total of 25 high-frequency keywords and 15 burst keywords were obtained. The formation of 12 author co-citation clusters such as image segmentation and lung nodule, as well as 11 keyword clusters such as automatic segmentation and breast cancer, was observed. Conclusion Current research on convolutional neural networks for oncology imaging diagnosis focuses on oncology segmentation, lung-nodule recognition, assisted diagnosis of breast cancer, and other high-frequency oncology.

Objective:To investigate the effects of mixed probiotics on food allergy and the underlying mechanism.Methods:BALB/c mice on the 15 th day of pregnancy were randomly (random number table method) classified into the control group, food allergy model group and mixed probiotics group.Mice in the food allergy model and mixed pro-biotics group were subjected to ovalbumin (OVA) sensitization after birth, and those in the mixed probiotics group were then given probiotic solution by gavage from day 21 to day 35.Mice in control group were similarly given 9 g/L saline.Twenty-four hours after the last OVA sensitization, intestinal histopathological sections were prepared to observe intestinal pathological changes.Blood smears were prepared to detect eosinophil count.In addition, serum samples were collected to measure cytokine levels and OVA specific antibodies.The number of dendritic cells (DCs) and regulatory T cells (Tregs) in mouse mesenteric lymph nodes was calculated.Differences among 3 groups were compared by the One- Way ANOVA or Kruskal- Wallis H test. Results:Compared with those of food allergy model group, diarrhea score, the ratio of eosinophils and serum levels of interleukin(IL)-4, IL-5, IL-13, mast cell protease 1 (MCPT-1), and OVA specific antibodies IgE and IgG were significantly lower in mixed probiotics group[(2.00±0.71) points vs.(3.22±0.97) points, (2.28±1.61)% vs.(10.99±2.26)%, (413.68±22.81) ng/L vs.(708.78±27.66) ng/L, (36.64±3.74) ng/L vs.(46.05±4.95) ng/L, (201.37±65.61) ng/L vs.(495.22±96.66) ng/L, (31 924.15±1 177.77) ng/L vs.(36 175.77±618.29) ng/L, (9.10±8.08) ng/L vs.(19.69±0.84) ng/L, (30.50±8.81) ng/L vs.(190.32±6.40) ng/L], while IL-10 level was significantly higher[(164.12±3.88) ng/L vs.(123.90±7.31) ng/L] ( t=3.37, 8.72, 16.07, 3.90, 7.40, 7.95, 3.91, 44.00 and 7.76, respectively, all P<0.01). Compared with those of food allergy model group, programmed cell death ligand 1 (PD-L1) level on the surface of CD 103+ DCs and CD 103+ CD 80-CD 40-DCs, the proportion of Tregs in CD4 + T cells, and the level of programmed cell death 1 (PD-1) on the surface of Tregs were significantly higher in mixed probiotics group[(75.59±0.45)% vs.(45.60±4.73)%, (67.56±1.87)% vs.(37.12±6.07)%, (8.24±0.69)% vs.(6.20±0.66)%, (11.25±3.12)% vs.(4.08±2.33)%]( t=7.88, 4.48, 3.63 and 3.71, all P<0.01). Conclusions:Mixed probiotics can alleviate the symptoms of food allergy and inflammatory response of young rats through mediating Tregs via the PD-1/PD-L1 pathway.

Objective:To investigate the distribution, drug resistance and clinical significance of bacteria and fungi in pancreatic juice of patients with severe acute pancreatitis (SAP).Methods:Data of patients with severe acute pancreatitis receiving ERCP treatment and pancreatic juice bacterial culture at Department of Hepatobiliary Surgery, General Hospital of Ningxia Medical University from Jan 2019 to Jun 2020 were retrospectively analyzed.Results:A total of 97 patients were included. Pathogens were isolated from 46 (47.42%) pancreatic juice samples, with 71 strains including 43 (60.56%) gram negative bacteria, 26 (36.62%) gram positive bacteria, and 2 (2.82%) fungi. The C-reactive protein (CRP), D-dimer and Balthazar CT Score in the culture positive group were higher than those in the culture negative group ( P < 0.05). The incidence of complications and pancreatic infection in the culture positive group was also significantly higher ( P < 0.05). Conclusions:The positive rate of pancreatic juice bacterial culture in the early stage of severe acute pancreatitis is high, in which Gram-negative bacteria are most common, followed by Gram-positive bacteria and fungi. The presence of pathogens in pancreatic juice predicts ensuing infections.

Objective:To explore the application effect of Jiankuai psychosomatic active therapy in the elderly perioperative patients.Methods:From March 2018 to December 2019, 387 elderly patients in the urology department of the First People′s Hospital of Lianyungang City, Jiangsu Province were selected. According to the patients in two medical groups in the same ward, 193 patients in one medical group were divided into the experimental group and 194 patients in two medical groups as the control group. The experimental group was intervened by routine perioperative nursing combined with simple and fast psychosomatic active therapy, while the control group was only intervened by routine perioperative nursing. Self rating Anxiety Scale (SAS), Rosenberg Self-confidence Scale and General Self-efficacy Scale (GSEs) were used as the evaluation indexes before and after the implementation of the two groups.Results:The SAS score of the experimental group was 31.13 ± 3.64 and that of the control group was 48.45 ± 7.72 on the 7th day after operation. The difference between the two groups was statistically significant ( t value was 16.36, P < 0.05). The effective rate of self-confidence was 98.4% (190/193) and 94.8% (183/193) in the experimental group and 86.6% (168/194) and 85.1% (165/194) in the control group on the first day and the seventh day after operation, respectively. The difference between the two groups was statistically significant ( Z values were - 3.27 and 14.66, all P < 0.05). The GSEs score of the patients in the experimental group was 26.79 ± 2.17 and that of the control group was 16.86 ± 1.90. The difference between the two groups was statistically significant ( t value was 10.19, P < 0.05). Conclusions:The application of Jiankuai psychosomatic active therapy can effectively reduce the tension and anxiety of the elderly patients during the perioperative period, increase their self-confidence and self-efficacy, effectively improve the communication efficiency between doctors and patients, and promote rehabilitation.

Objective:To investigate the phenotype, genotype and clinical course of centronuclear myopathy(CNM) in children.Methods:Clinical data of patients with CNM in the Department of Pediatrics, Peking University First Hospital from October 2008 to December 2018 were collected.The clinical, pathological and genetic data of 9 children with CNM were retrospectively analyzed.The patients were followed up from 8 months to 8.6 years [(4.4±3.1) years].Results:(1)Clinical phenotype: there were 6 males and 3 females with onset age ranging from 1 d to 10 years.Generalized muscle weakness or motor retardation was the main complaint in 8 cases, while elevated muscle enzymes presented in 1 case.Varying degrees of skeletal muscle weakness were noted on examination in all patients, with facial muscle involvement in 4 cases.Six patients were followed up.No deterioration in motor function was noted, while 2 patients had improvement.There was no significant cardiac involvement in all 6 patients.Scoliosis occurred in 4 patients.Restrictive ventilator disorder developed in 2 out of the 5 patients who underwent pulmonary function tests.(2)Genotype: 8 out of 9 patients underwent gene test, confirmed gene diagnosis in 4 patients including: DNM2 gene (c.1856C>T, c.1893+ 1G>A was novel) de novo heterozygous mutation in 2 cases, RYR1 gene (c.2044C>G, c.6823G>A, both were novel) compound heterozygous mutation in 1 case, and TTN gene (c.107377+ 1G>A, c.2106_2107 insAAGCTGTA was novel) compound heterozygous mutation in 1 case. Conclusions:The course of centronuclear myopathy is relatively static, with more frequent involvement of facial muscles than myocardium.This study enriched the gene mutation spectrum of centronuclear myopathy (4 novel mutations).

Objective:To explore the clinical, pathological and genetic characteristics of early-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1), in order to increase awareness of the disease.Methods:In this retrospective study, the history of 3 patients, who were diagnosed with early-onset FSHD1 by molecular genetic test in Pediatric Outpatient Department of Peking University First Hospital from 4 th June 2012 to 4 th June 2018, were collected. Their clinical data, genotypes, phenotypes and pathological features of muscle biopsy were analyzed. Results:All the three patients were males at the age of 14 years, 11 years and 9 years 11 months, respectively, whose onset age was between infancy and early childhood and they got confirmed diagnosis within 4 to 10 years after the onset of illness. Their molecular genetic testing indicated that the number of D4Z4 repeat arrays located in 4qA were 2, 3 and 4, which was consistent with the characteristics of early-onset FSHD1. Their common clinical manifestations were facial, scapular and proximal lower limb muscle progressively and asymmetrically weakness. All patients had different severity of spine deformity and high-frequency dominant sensorineural hearing loss, however, the phenotype of the third patient with 4 D4Z4 repeats was significantly the most severe.Conclusions:Early-onset FSHD1 usually concealed onset and is difficult to diagnose. Its precise diagnosis depends on molecular genetic techniques, but the genotypes of 3 patients here are not corresponding to phenotypes strictly and it is necessary to accumulate more cases for further analysis in order to provide a more reliable basis for the relationship of genotype-phenotype and prognosis evaluation of the disease.

Objective: To explore clinical features and the effect of treatment of neuromyelitis optica spectrum disorders (NMOSD) in childhood. Methods: Children who were hospitalized in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2018 and meeting diagnostic criteria of NMOSD proposed by the International Panel for NMOSD Diagnosis in 2015 were summarized and followed up. The basic information, symptoms of each attack, locations and patterns of new lesions, features of cerebrospinal fluid, serologic markers, treatments and outcomes in these patients were analyzed. Thirty-three children were included in the study, with 13 males and 20 females. The median age of onset was 6.83 (4.25, 8.75) years. Compared aquaporin-4 immunoglobulin G (AQP4-IgG) associated NMOSD with myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) associated NMOSD. Mann-Whitney U test was used for continuous variables and Fisher test for categorical variables in comparison between AQP4-IgG and MOG-IgG associated NMOSD. Wilcoxon test was used for annualized relapse rate (ARR) before and after adding disease-modifying drugs. Results: Optic neuritis (39% (13/33) in initial attacks and 49% (62/127) in total attacks) and myelitis (36% (12/33) in initial attacks and 26% (33/127) in total attacks) were the top two symptoms in both the initial attacks and all 127 attacks during follow-up. There was 42% (37/89) of brain magnetic resonance imaging (MRI) scans in acute phase showing new lesions in supratentorial white matter, with 43% (16/37) showing acute disseminated encepha lomyelitis (ADEM)-like or leukodystrophy-like patterns. AQP4-IgG was detected in 30% (10/33) patients, and MOG-IgG was detected in 55% (11/20) patients, with no combined positive case. In 20 patients treated with rituximab, two were treated after the initial attack. In the other 18 patients, the median annualized relapse rate decreased from 1.86 (1.52, 2.60) before treatment to 0.28 (0, 1.13) during treatment (Z=-3.376, P=0.001). Compared with AQP4-IgG associated NMOSD (10 cases), fever of unknown origin (8/40 vs. 0/33, P=0.007) was more common, area postrema syndrome (0/40 vs. 4/33, P=0.038) was fewer, cell count of cerebrospinal fluid (49.0 (17.5, 115.0) ×10⁶/L vs. 5.5 (3.0, 15.8)×10⁶/L, Z=-3.526, P=0.000) was higher in MOG-IgG associated NMOSD (11 cases). Conclusions In childhood-onset NMOSD, optic neuritis and myelitis were top two symptoms. Childhood-onset NMOSD has high proportion of positive MOG-IgG. Lesions in supratentorial white matter are common. Rituximab could significantly decrease ARR of NMOSD in childhood. However, more studies should be conducted to explore the optimal treatment strategy in different antibody associated NMOSD.

Objective To summarize the clinical and electroencephalogram features of neuronal ceroid lipofus-cinosis (NCL). Methods A retrospective analysis of the clinical phenotypes and electroencephalogram features of pa-tients diagnosed with NCL in Department of Pediatrics,Peking University First Hospital from February 2000 to August 2015 were conducted. Results Among the 30 patients,18 were male and 12 were female. The age of onset was between 9 months to 7 years old. The first symptoms included seizure in 22 patients,psychomotor developmental delay or regre-ssion in 7 cases,and visual loss in 1 case. Clinical manifestations included psychomotor regression in 29 cases,epilepsy in 28 cases,visual impairment in 19 cases,ataxia in 20 patients,and positive pyramidal tract sign in 13 cases. Twenty-one patients accepted fundus oculi examination. Seven patients were found with macular degeneration,8 cases with optic nerve atrophy,2 cases with retinal pigment degeneration,and 8 patients were normal. Brain atrophy were found in all 30 cases,including diffuse brain atrophy in 14 cases,only cerebellar atrophy in 6 cases,and cerebral atrophy with periven-tricular T2W high signal in 10 cases. Video electroencephalogram(EEG)examination was performed in 27 patients and their backgrounds were diffuse slow waves. Seven patients didn't have physiological vertex sharp waves or sleep spin-dles. Generalized epileptiform discharges were captured in 6 cases,focal epileptiform discharges in 15 cases. Both of generalized and focal epileptiform discharges were captured in 6 cases. Generalized slow wave burst in 4 cases,and in-termittent photic stimulation evoked epileptiform discharges in 3 cases. Ten patients were observed with clinical sei-zures,including 4 cases of myoclonic episodes,3 cases of atypical absences,3 cases of focal seizures,1 case of atonic and one of tonic spasms. Peripheral blood enzyme examination was taken in 13 patients,among whom 8 patients were identified with tripeptidyl peptidase 1 (TPP1)deficiency and 1 patient with palmitoyl protein thioesterase 1 (PPT1) deficiency. Twenty-eight patients accepted skin and/or muscle electron microscope examination. Osmiophilic granular was found in 2 cases,curvilinear bodies in 15 cases,fingerprint profiles in 2 cases,curvilinear and linear bodies in 1 case,fingerprint profiles and osmiophilic granular in 1 case. NCL-related gene detection was conducted in 3 patients, with 1 patient identified with CLN6 compound heterozygous mutations and 2 patients with TPP1 homozygous mutations. Thirty patients were classified into 3 groups based on the onset age,enzymatic examination results and pathological examination of skin and muscle,including 5 cases of infantile NCL,20 cases of late-infantile NCL,and 5 cases of juvenile NCL. Conclusions The clinical features of NCL included multiple types of epileptic seizures (among which myoclonus was the most common type),psychomotor developmental delay or regression,vision loss,ataxia,and positive pyramidal tract sign. Its MRI was characterized with brain atrophy. EEG showed diffuse slow wave activity,with focal and/or generalized epileptiform discharges. Specific enzyme examination,and skin or muscle pathology or gene test could help to make diagnosis.