Objective:To summarize and analyze the clinical characteristics, treatment and prognosis of glycogen storage disease type Ⅱ(GSD Ⅱ) patients admitted to pediatric intensive care units(PICU), and to improve the pediatricians' understanding of children with severe GSD Ⅱ.Methods:Children with GSD Ⅱ admitted to PICU at Beijing Children's Hospital of Capital Medical University between January 2010 and December 2021 were included. Patient's data were collected through the electronic medical record system.After the patient was discharged,telephone follow-ups were conducted regularly for over a year.Results:A total of eight patients with a median age of 30.5 months were included. There were four patients with infantile GSD Ⅱ, whose median age of onset was 5.5 months. There were four patients with late-onset GSD Ⅱ, whose median age of onset was 36.0 months. Eight patients required continuous noninvasive/invasive respiratory support. Three patients with infantile GSD Ⅱ required respiratory support within one month of onset, and three patients with late onset GSD Ⅱ required respiratory support within one year of onset. A total of six patients had cardiac arrest during the course of the disease. One patient was regularly treated with enzyme replacement therapy during hospitalization but his condition did not improve significantly. Three patients were discharged following medical advice,including one patient continuing noninvasive respiratory support after discharge, and two patients requiring onging invasive respiratory support.A total of four children died,including one being an in-hospital death,and three occuring within one year after hospital discharge. A total of 14 genotypes were detected in eight patients, of which three were newly discovered gene mutations.Conclusion:The children with GSD Ⅱ admitted to PICU have severe respiratory dysfunction and need continuous respiratory support during the early stage of the disease. The incidence of cardiopulmonary arrest caused by infection and respiratory muscle weakness is high. It is recommended to closely monitor the lung function and cardiac function of such children, and actively give the prevention and treatment of infectious diseases. Whether enzyme replacement therapy can benefit patients with severe GSD Ⅱ and whether the newly identified mutations correlate with disease severity needs to be further evaluated.

Objective:To investigate the effects of Neibu Huangqi Decoction combined with Kangfuxin Liquid on wound healing after hemorrhoid fistula.Methods:Randomized controlled trial. A total of 90 patients with hemorrhoid fistula surgery in Tangshan Hospital of Traditional Chinese Medicine from January 2020 to June 2021 were selected as the observation objects and divided into 2 groups by random number table method, with 45 cases in each group. The control group was treated with Kangfuxin Liquid after surgery, and the observation group was treated with Neibu Huangqi Decoction. Both groups were treated continuously for 14 days. Wound symptom score was performed before and after treatment. The levels of TNF-α, IL-6 and IL-8 were determined by ELISA. The wound healing time was observed and the wound healing rate was calculated. Adverse reactions were recorded and clinical efficacy was evaluated.Results:The total effective rate was 93.33% (42/45) in the observation group and 66.67% (30/45) in the control group, with statistical significance ( χ2=9.89, P=0.002). After treatment, the scores of pain [(0.63±0.14) vs. (0.97±0.27), t=7.50], exudation [(0.67±0.12) vs. (1.09±0.31), t=8.48], edema [(0.78±0.17) vs.(1.25±0.36), t=7.92], pruritus [(0.78±0.20) vs. (1.32±0.33), t=9.39] were lower than those in the control group ( P<0.01); serum TNF-α [(33.46±2.86) μg/L vs. (45.78±3.92) μg/L, t=25.39], IL-6 [(41.86±5.84) μg/L vs. (56.12±6.75) μg/L, t=15.98], IL-8 [(27.40±3.58) ng/L vs. (36.16±3.84) ng/L, t=16.69] were lower than those in the control group ( P<0.01). The wound healing time of the observation group was shorter than that of the control group ( t=8.60, P<0.01), and the wound healing rate was higher than that of the control group ( t=24.65, P<0.01). During treatment, the incidence of adverse reactions was 11.11% (5/45) in the observation group and 6.67% (3/45) in the control group, without statistical significance ( χ2=0.14, P=0.711). Conclusion:Neibu Huangqi Decoction combined with Kangfuxin Liquid can promote wound healing, reduce inflammatory cytokines, relieve pain and exudation, improve clinical efficacy, and have few adverse reactions.

Objective:To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH).Methods:In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children′s Hospital from January 2010 to January 2020. The clinical characteristics, PHEX gene variants, as well as clinical outcome of the patients were summarized. To analyze the correlation between genotype and phenotype, the patients were divided into different subgroups according to the location of the variants, including N-terminal-located vs. C-terminal-located variant, and Zn-binding domain exon 17 or 19 variant vs. non-exon 17 or 19 variant. The age at onset, height standard deviation score (HtSDS), intercondylar or intermalleolar distance, fasting serum phosphorus, and HtSDS and intercondylar or intermalleolar distance at the final follow-up were compared by rank sum test or t text. Results:Among the 25 children with XLH, 8 were boys and 17 were girls. The median age of onset was 1.2 (1.0, 1.8) years, and the median age of diagnosis was 2.5 (1.5, 4.3) years. The main clinical manifestations were abnormal gait and lower limb deformity. The HtSDS was -2.0(-3.2, -0.8), and the intercondylar or intermalleolar distance was 4.5 (3.0, 6.0) cm. The fasting serum phosphorus level was 0.8 (0.7, 0.9) mmol/L, while the serum alkaline phosphatase level was (721±41) U/L and the serum calcium level was (2.5±0.1) mmol/L. Three patients (12%) had parathyroid hormone levels above the upper limit of the normal range. Twenty-five patients (100%) showed radiographic changes of active rickets. Nephrocalcinosis was found in 2 cases (9%). Twenty-four different PHEX variations were detected in 25 patients, among whom 11 (44%) had not been reported previously. No hot spot variation was found. No statistical differences (all P>0.05) were identified in clinical features and outcomes either in comparing patients with N-terminal (21 cases) and C-terminal (4 cases) variants, or in comparing patients with variant located in exon 17 or 19 (4 cases) or not (21 cases). Twenty-four cases (96%) were treated regularly with phosphate supplements and active vitamin D. After 2.7 (1.6, 5.0) years of follow-up, clinical symptoms were relieved in 96% (24/25) of the patients. The HtSDS after treatment had no significant difference compared to that before treatment (-2.0(-3.2, -0.8) vs.-2.0(-2.8, -1.1), Z =-0.156, P>0.05), while the intercondylar or intermalleolar distance after treatment was significantly reduced compared to that before treatment (4.5(3.0, 6.0) vs. 1.5(0, 3.3) cm, Z =-3.043, P<0.05). Bone X-rays were reexamined in 17 cases after treatment, and radiographic signs of rickets were improved. Eighteen cases had secondary hyperparathyroidism and 7 cases had nephrocalcinosis. Conclusions:The main clinical manifestations of XLH are abnormal gait, lower limb deformity and short stature. A high proportion of novel variations of PHEX gene but no hot spot variation neither genotype-phenotype correlation are found. Regular treatment with phosphate supplements and active vitamin D can significantly improve the symptoms except for the height. However, the rate of adverse events including secondary hyperparathyroidism and nephrocalcinosis seems to be high.

Objective:To identify the differentially expressed snoRNAs in the carcinogenesis of cells induced by α-particles radiation and predict the targeted genes and RNA-co-expression networks.Methods:Full transcriptome expression microarray biochips were employed to screen the differentially expressed snoRNAs between human bronchial epithelial BEP2D cell line and its derivative malignantly transformed cell line BERP35T-4 established by α-particle irradiation. The expression changes of snoRNAs and their derived sdRNAs were confirmed by qRT-PCR. The functional domains, targets and co-expression networks of snoRNA were predicted by bioinformatics analysis.Results:Consistent with the result of microarray assay, the expression changes of the screened snoRNAs were confirmed by qRT-PCR. The expressions of sno116 family decreased in BERP35T-4, which was 0.105% ( t=26.60, P<0.01) of BEP2D, and they were generally down-regulated in radiation-induced carcinogenic BERP35T-4 cells and the human lung cancer cell lines A549 and H1299. It was also found that the expression level of the sdRNAs derived from sno116-14 was significantly different in the same cells. It was speculated that these less expressed sdRNAs of sno116-14 could be due to degradation as the consequence of interaction with their targets. The co-expression networks of sno116 family with other types of RNA were established, and the predicted targets of sno116-14 included ZNF280D, TFDP1, CCDC28B, RPS6KA3, CANX, RUNX1 and KALRN, which were related to the functions of cell proliferation and cytoskeletal structure. Conclusions:Some differentially expressed snoRNAs related to α-particle induced carcinogenesis have been identified. It is predicted that the target gene of sno116-14 is involved in the biological processes such as cell proliferation, cytoskeletal structure and the signaling pathways for function regulation, providing new information for the function model of C/D box snoRNAs and the mechanism of radiation carcinogenesis.

Objective To investigate the effect of montmorillonite powder combined with racecadotril granules on serum levels of interleukin-2 (IL-2),interleukin-6 (IL-6),interleukin-10 (IL-10) and high-sensitivity C-reactive protein (hs-CRP) in children with rotavirus enteritis.Methods From June 2014 to July 2016,76 children with rotavirus enteritis in the People's Hospital of Pujiang County were selected and randomly divided into control group and study group according to the digital table,with 38 cases in each group.The two groups were given basic treatment after admission,on the basis,the control group was treated with montmorillonite powder,and the study group was treated with montmorillonite powder combined with racecadotril granules.The two groups were treated for 3 days.The clinical efficacy,clinical symptoms (stool,stool frequency,dehydration,vomiting,fever) recovery time,serum IL-2,IL-6,IL-10 and hs-CRP levels at admission and after treatment,and the incidence of adverse reactions were statistically compared between the two groups.Results The clinical efficacy of the study group (mild constipation,rash,nausea) was better than the control group[19 cases(50.00％) vs.11 cases(28.95％),16 cases(42.11％)vs.15 cases(39.47％),3 cases(7.89％) vs.12 cases(31.58％)],the difference was statistically significant(Z =2.358,P ＜ 0.05).The recovery time of stool character[(45.58 ± 10.11) h],stool frequency [(44.96 ± 10.03) h],dehydration[(33.15 ± 10.27)h],vomit[(18.16 ±6.46)h],and fever[(25.51 ± 10.32)h]of the study group were less than those of the control group(t =9.618,8.344,8.557,3.921,9.487,all P ＜ 0.05).The serum levels of IL-2,IL-6,IL-10 and hs-CRP before treatment between the two groups had no statistically significant differences (all P ＞ 0.05).After treatment,the serum levels of IL-2 and IL-10 in the study group were higher than those in the control group,the serum levels of IL-6 and hs-CRP were lower than those in the control group,the differences were statistically significant(t =5.545,7.705,7.090,10.352,all P ＜ 0.05).The incidence rate of adverse reactions between the study group and the control group had no statistically significant difference(10.52％ vs.13.15％,x2 =0.000,P ＞ 0.05).Conclusion Montmorillonite powder combined with racecadotril granules in the treatment of rotavirus enteritis can effectively relieve the clinical symptoms,improve the serum inflammatory factors level,reduce the inflammatory reaction in vivo,improve the therapeutic effect and has high safety.

Objective: To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods: A prospective self-control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People′s Liberation Army General Hospital from January 2011 to January 2019 were collected. The long-term rapamycin treatment for all patients initiated at 1 mg/(m²·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results: Ninety-two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow-up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0,7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750,P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and ≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102,P=0.393,0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and ≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0,18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm)(Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214,P=0.345,0.225,0.301,0.058,0.109,0.225, respectively).Twenty-nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions Rapamycin could decrease the diameter of TSC-related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.

To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods A prospective self?control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People's Liberation Army General Hospital from January 2011 to January 2019 were collected. The long?term rapamycin treatment for all patients initiated at 1 mg/(m2·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results Ninety?two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow?up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0, 7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750, P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102, P=0.393, 0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0, 18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm) (Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214, P=0.345, 0.225, 0.301, 0.058, 0.109, 0.225, respectively). Twenty?nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions Rapamycin could decrease the diameter of TSC?related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.

Objective To analyze the relationship between the morphological characteristics and rotator cuff tear (RCT) by MR.Methods The data of clinic and shoulder MRI of 37 patients with RCT (patients group) were analyzed retrospectively,and 19 healthy volunteers were collected in control group.The acromial shapes were classified into type Ⅰ (flat),type Ⅱ (curved),type Ⅲ (hooked) and type Ⅳ (convex).Additional measurements about pathogenesis of RCT including acromio-humeral distance (AHD),acromial index (AI),lateral acromial angle (LAA) and acromial thickness were performed for further assessment.Results Type Ⅱ was the most commonly encountered acromial shape in patients group (16/37,43.24 ％) and control group (11/19,57.89 ％).There was no statistically significant difference in the incidence of each acromial shape between two groups (P＞0.05).However,the AHD,AI,LAA and acromial thickness showed statistically significant difference between the patients group and control group (all P＜0.05).The type Ⅲ acromion was signifi candy different from the other types in patients group (P＜0.05).Conclusion MRI can clearly display RCT.The AHD and LAA are smaller,the AI and acromial thickness are bigger in RCT patients.Type Ⅲ acromion may increase risks for RCT.

Objective To explore the effect of abortion, effect of Yunnan Baiyao Combined with Wujia Shenghua capsule in patients with medical abortion vaginal bleeding time.MethodsSelect 98 cases from March 2014 to May 2016 by drug abortion in second hospital of shandong university, were randomly divided into combined group and control group with 49 cases in each group, two groups were given routine drug treatment, combined group was given Yunnan Baiyao combined with Wujia Shenghua capsule, comparing the two groups of patients with abortion, vaginal bleeding time.ResultsCombined group and control group differences in the complete abortion rate was not statistically significant, combinde group of pregnant sac discharge time is shorter than the control group (P<0.05);combined group with the duration of vaginal bleeding, vaginal bleeding and vaginal bleeding in 7~14 days>14 days the percentage of patients were lower than those in control group (P<0.05);combinde group of vaginal bleeding (16.33%), the amount of menstrual and menstrual amount (59.18%), > menstruation (24.49%) and the control group (12.24%, 38.78%, 46.94%) with significant difference (P<0.05);combined group of menses time, menstrual duration compared with the control group, the difference was not statistically meaning.ConclusionYunnan Baiyao combined with Wujia Shenghua capsule can accelerate the gestational sac discharge, shorten the time of vaginal bleeding, reduce the amount of vaginal bleeding.

Objective To investigate the clinical benefits and the impacts on distribution and antibiotic resistance of pathogenic bacterium associated with fluoroquinolone prophylaxis during neutropenia in patients with acute leukemia.MethodsA total of 62 infection episodes occurred in patients with acute leukemia were retrospectively analyzed from October 2013 to October 2015.The patients admitted in ward A (group A,n=31) received Cephalosporin drugs as contrast, and received quinolones in ward B (group B,n=31).ResultsTo observe the implementation of quinolones in treatment of patients, the bacteria decreased significantly, the Klebsiella pneumoniae was the most common, but compared with the control group, there are still differences (P<0.05, and the observation group of patients with oral ulcer infection rate was 9.68%, upper respiratory tract infection rate was 6.45%, the infection rate of lung 6.45%, the digestive tract infection rate was 6.45%, the infection rate was 3.23%, perianal skin infection rate was 3.23%, the infection rate was 3.23%, which is significantly lower than the control group (P<0.05, and the observation group of patients with severe neutropenia, duration of neutropenia lack degree is significantly better than the control group (P<0.05).ConclusionThe fluoroquinolone prophylaxis induces diminishing proportion of normal flora and increasing frequency of Escherichia coli in severely neutropenic patients with acute leukemia,may not influence the distribution of other bacteria.The susceptility of main pathogens may not be affected by antibiotic prophylaxis.The fluoroquinolone don't decrease the incidence of septicemia and infection in gastrointestinal tract.Our data suggest that more prudent use of antibiotic prophylaxis may be reasonable even in patients at high-risk for developing infection.