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 Utilizing transcriptomic sequencing,this study aimed to monitor the expression alterations of GIMAP8 and SEC14L5 throughout the progression of pulmonary fibrosis,thereby providing insights into the underlying mechanisms of its pathogenesis and evolution.Methods C57BL/6 male mice were assigned in a randomized manner to either the Silica or PBS group.The Silica group underwent non-exposed endotracheal intubation on days 0 and 14 with 50 μL 100 mg/mL silica suspension,while the control group received 50 μL phosphate-buffered saline solution.On day 28,lung function was detected and the mice were sacrificed,and lung morphology,fibrosis,and mRNA levels were observed.Results When contrasted with individuals in good health,a differential expression analysis of mRNA in patients with pneumoconiosis identified a total of 584 mRNAs with significant expression differences.Among these,the expression of 242 mRNA was observed to be markedly elevated,while that of 342 mRNA was found to be considerably diminished.The enrichment analysis indicated that the primarily affected mRNAs with altered expression were associated with pathways such as p53,nuclear factor-κB,tumor necrosis factor,AMP-activated protein kinase,and other signaling pathways.In the Silica mice,the alveolar structures were compromised,characterized by the presence of collagen fiber accumulation and the formation of fibrous masses.In contrast,the PBS mice maintained a normal pulmonary architecture.GIMAP8 expression was up-regulated whereas SEC14L5 expression was down-regulated in lung tissues in the Silica mice,and mice in the Silica group had poorer lung function.Conclusions The onset and progression of pulmonary fibrosis may be significantly influenced by GIMAP8 and SEC14L5 expression in patients with pneumoconiosis and in silicosis animal models.This association could serve as a foundational molecular insight,paving the way for the development of preventative and therapeutic strategies against these conditions.

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.

In growing children, growth plate cartilage has limited self-repair ability upon fracture injury always leading to limb growth arrest. Interestingly, one type of fracture injuries within the growth plate achieve amazing self-healing, however, the mechanism is unclear. Using this type of fracture mouse model, we discovered the activation of Hedgehog (Hh) signaling in the injured growth plate, which could activate chondrocytes in growth plate and promote cartilage repair. Primary cilia are the central transduction mediator of Hh signaling. Notably, ciliary Hh-Smo-Gli signaling pathways were enriched in the growth plate during development. Moreover, chondrocytes in resting and proliferating zone were dynamically ciliated during growth plate repair. Furthermore, conditional deletion of the ciliary core gene Ift140 in cartilage disrupted cilia-mediated Hh signaling in growth plate. More importantly, activating ciliary Hh signaling by Smoothened agonist (SAG) significantly accelerated growth plate repair after injury. In sum, primary cilia mediate Hh signaling induced the activation of stem/progenitor chondrocytes and growth plate repair after fracture injury.
Mice ; Animals ; Hedgehog Proteins/genetics* ; Receptors, G-Protein-Coupled/metabolism* ; Cilia/metabolism* ; Cartilage/metabolism* ; Regeneration

Objective:To explore the effects of the extract of Sanchen powder(ESCP)combined with vancomycin on methicillin-resistant Staphylococcus aureus(MRSA)planktonic cells,biofilms,and virulence factors.Methods:The herbs in Sanchen powder(SCP)were extracted separately with 50％ethanol.Then,the content of hydroxysafflower yellow A(HSYA)and cholic acid in the extract of artificial cattle bezoar(artificial Calculus bovis)and safflower(Carthamus tinctorius L.)was measured by ultraviolet visible-vis spectrophotometry and high-performance liquid chromatography.The effects of ESCP combined with vancomycin on MRSA by observing its biofilm viability were assessed using a 2,3-bis-(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium5-carboxanilide reduction assay and scanning electron microscopy.Additionally,enzyme activity was measured by plasma coagulase test and DNase test.Results:The cholic acid content of the artificial C.bovis extract was 7.34(0.81)mg/g,and the HSYA content of the C.tinctorius extract was 9.18(0.09)mg/g.The minimal inhibitory concentrations of ESCP and vancomycin were 25.6 mg/mL and 2 μg/mL.The minimum bactericidal concentration of ESCP was 51.2 mg/mL.ESCP combined with vancomycin could inhibit the expression of coagulase and bacteria in mature biofilms.Neither ESCP nor vancomycin had a significant effect on DNase.Conclusion:This study is the first to show that ESCP combined with vancomycin inhibits coagulase and MRSA embedded in mature biofilms and that it represents a promising treatment for MRSA infection.

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 explore the effect of insulin subcutaneous pump combined with psychological intervention on gestational diabetes mellitus.Methods A total of 118 patients were enrolled in this study from November 2015 to October 2016 in Lishui central hospital.The patients were randomly divided into the experimental group and the control group according to the time of hospitalization.The experimental group was given insulin subcutaneous pump combined with psychological intervention.The control group was given insulin subcutaneous pump.Results After intervention, the degree of complete compliance in the experimental group was 86.44% and 28.81% before intervention, the difference was statistically significant(P<0.05).Compared with before treatment, blood glucose and glycosylated hemoglobin were decreased after treatment(P<0.05).The incidence of complications in the two groups include: pregnant women with excessive amniotic, neonatal hypoglycemia, pregnancy induced hypertension syndrome and so on.The difference of complication rate between the two groups was statistically significant(P<0.05).Conclusion The timely and accurate psychological guidance of pregnant women with diabetes mellitus can control the blood glucose in the normal range, reduce the occurrence and development of maternal and child complications, and ensure the safe and healthy mother and child health.

Meridians in human body were classified as white meridian and black meridian according to Tibetan medicine.Season and environment,improper diet,toxic heat and trauma were recognized as main reasons damaging the white meridian in Tibetan Medicine,leading to the emerge of white meridian disease induced by Long (one of the three factors) and blood disorder.White meridian disease in Tibetan medicine involved a series diseases,such as many clinical diseases,due to the damage of white meridian system caused by pathogenic factors.Stroke also belonged to white meridian disease.Drugs and treatments were selected based on the nature of disease such as cold and heat,onset,thelocation of disease and the three factors (Chi Ba,Long and Pei Gen).It was the fundamental principle of the treatment rules of white meridian disease in Tibetan medicine,namely,prescribing medication with the rule of diagnosis and treatment,comprehensive analysis of the causes of diseases and mastering the change law of diseases and syndromes in clinic.

Objective To study the effect of ultrasound guided curettage after methotrexate and mifepristone in the treatment of endogenous caesarean scar pregnancy.Methods A retrospective analysis was performed on 43 patients of endogenous caesarean scar pregnancy undergoing treatment of ultrasound guided curettage after methotrexate and mifepristone.Results 39 cases were successful,4 cases were transformed to laparotomy because of intraoperative blood loss,7 cases of bleeding after curettage were successful by uterine carity placed double lumina Foley catheter. Conclusion Ultrasound guided curettage after methotrexate and mifepristone is a safe,effective,little trauma and low cost method in the treatment of endogenous caesarean scar pregnancy,it especially adapts to primary hospital.