Objective To explore the the detection of MMP-2,-7,-9,and-12 enzymatic activity using the CEACAM1-derived fluorescent peptide substrate Site 84,investigating the application of substrate Site 84 to distinguishing between MMP-2 and MMP-9 in the gelatinase spectrum of MMPs.Methods The fluorescent enzymatic method was employed to observe the detection of MMP-2,-7,-9,and-12 enzymatic activity using substrate Site 84;further observations were made on the sensitivity and specificity of substrate Site 84 to enzymatic activity of MMP-2 and MMP-9 within the gelatinase spectrum;the kinetic parameters(Km and Kcat)of the enzymatic reaction between substrate Site 84 and MMP-2 were obtained.Results Using Site 84 as a substrate,enzymic kinetics curves for MMP-12,-7,-2 were obtained,but no enzymatic activity curve for MMP-9 was observed.Furthermore,Site 84 specifically detected the enzymatic activity of MMP-2 within the gelatinase spectrum,capable of detecting low concentration(0.6 μM)of MMP-2 enzymatic activity,but no obvious enzymatic reaction was observed for high concentration(6 μM)of MMP-9;the kinetics parameters for the enzymatic reaction between Site 84 and MMP-2 were Km=315 μM,Kcat/Km=2 565/MS.Conclusion The CEACAM1-derived substrate Site 84 serves as a novel fluorescent peptide substrate,enabling the acquisition of enzymatic activity curves for MMP-12,-7 and-2,and specifically detecting the enzymatic activity of MMP-2 within the MMP gelatinase spectrum.

Glycogen storage disease type Ⅱ,also known as Pompe disease,is an autosomal recessive metabolic myopathy with pulmonary hypertension as a rare complication.We reported a case of pulmonary hypertension in adult with late-onset glycogen storage disease type Ⅱ.Her arterial blood gas results indicated type Ⅱ respiratory failure,lung function indicated severe restricted ventilation dysfunction,sleep monitoring indicated severe sleep apnea hypopnea,severe nocturnal hypoxemia,echocardiography-derived systolic pulmonary pressure was 62 mmHg(1 mmHg=0.133 kPa),electromyography indicated myogenic lesion,and whole exon sequencing indicated GAA gene mutation.Supportive therapy and enzyme replacement therapy are applied in this patient.

In hypoxic-ischemic brain damage (HIBD), the programmed cell death known as ferroptosis is significantly activated. Microglial cells demonstrate a high level of sensitivity to iron accumulation. Understanding how to regulate the dual role of microglia and transforming the microglial ferroptosis to a moderate and controllable process has considerable implications for the targeted treatment in HIBD. This paper serves as an overview of microglia-mediated ferroptosis in HIBD as a disease model. We discuss various aspects centered around microglia, including pathophysiological mechanisms, polarization and functions of microglia, molecular mechanisms of ferroptosis, signaling pathways, and therapeutic strategies. The review aims to provide a reference for studies of ferroptosis in microglia.
Microglia/physiology* ; Ferroptosis/physiology* ; Humans ; Animals ; Hypoxia-Ischemia, Brain/pathology* ; Signal Transduction

Glycogen storage disease type Ⅱ,also known as Pompe disease,is an autosomal recessive metabolic myopathy with pulmonary hypertension as a rare complication.We reported a case of pulmonary hypertension in adult with late-onset glycogen storage disease type Ⅱ.Her arterial blood gas results indicated type Ⅱ respiratory failure,lung function indicated severe restricted ventilation dysfunction,sleep monitoring indicated severe sleep apnea hypopnea,severe nocturnal hypoxemia,echocardiography-derived systolic pulmonary pressure was 62 mmHg(1 mmHg=0.133 kPa),electromyography indicated myogenic lesion,and whole exon sequencing indicated GAA gene mutation.Supportive therapy and enzyme replacement therapy are applied in this patient.

Objective:To explore the clinical characteristics, pathological features, and diagnosis and treatment strategies of nasal chondromesenchymal hamartoma (NCMH) in infants and young children.Methods:A retrospective analysis was conducted on seven cases of NCMH infants and young children admitted to Beijing Children′s Hospital, Capital Medical University from April 2015 to January 2022. The cohort included 5 males and 2 females, aged from 6 days to 2 years and 3 months. General information, clinical symptoms, imaging findings, treatment plans, postoperative complications, recurrence and follow-up time were collected, summarized and analyzed. Additionally, immunohistochemical characteristics of the lesion were examined.Results:The clinical symptoms of 7 children included nasal congestion, runny nose, open mouth breathing, snoring during sleep, difficulty feeding, and strabismus. All patients underwent electronic nasopharyngoscopy examination, with 5 cases of tumors located in the right nasal cavity and 2 cases in the left nasal cavity. No case of bilateral nasal cavity disease was found. All 7 patients underwent complete imaging examinations, with 5 patients underwent MRI and CT examinations, 1 patient underwent CT examination only, and 1 patient underwent MRI examination only. The CT results showed that all tumors were broad-based, with uneven density, multiple calcifications and bone remodeling, and some exhibited multiple cystic components. The MRI results showed that the tumor showed low signal on T1 weighted imaging and high or slightly high signal on T2 weighted imaging. All patients were diagnosed through histopathological examination and immunohistochemistry, including 7 cases of Ki-67 and SMA (+), 5 cases of S-100 and Vimentin (+), and all EMA and GFAP were negative. All patients underwent endoscopic resection surgery through the nasal approach, with 3 cases using navigation technology. Five cases of tumors were completely removed, and two cases of tumors were mostly removed. No nasal packing was performed after surgery, and no postoperative nasal, ocular, or intracranial complication occurred in all patients. Follow up assessments conducted 6 to 84 months post-surgery revealed no instances of tumor recurrence in any of the patients.Conclusions:The clinical symptoms of children with NCHM mainly depend on the size and location of the tumor. Nasal endoscopic surgery is the main treatment method. In cases where critical structures like the skull base or orbit are implicated, staged surgical interventions may be warranted. Long-term follow-up is strongly advised to monitor for any potential recurrence or complications.

Background::Given that seizures may be triggered by vaccination, this study aimed to evaluate the risk and correlative factors of seizures in patients with epilepsy (PWE) after being vaccinated against coronavirus disease 2019 (COVID-19).Methods::This study retrospectively enrolled PWE who were vaccinated against COVID-19 in the epilepsy centers of 11 hospitals in China. We divided the PWE into two groups as follows: (1) patients who developed seizures within 14 days of vaccination were assigned to the SAV (with seizures after vaccination) group; (2) patients who were seizure-free within 14 days of vaccination were assigned to the SFAV (seizure-free after vaccination) group. To identify potential risk factors for seizure reccurence, the binary logistic regression analysis was performed. Besides, 67 PWE who had not been vaccinated were also included for elucidating the effects of vaccination on seizures recurrence, and binary logistic regression analysis was performed to determine whether vaccination would affect the recurrence rate of PWE who had drug reduction or withdrawal.Results::The study included a total of 407 patients; of which, 48 (11.8%) developed seizures within 14 days after vaccination (SAV group), whereas 359 (88.2%) remained seizure-free (SFAV group). The binary logistic regression analysis revealed that duration of seizure freedom ( P < 0.001) and withdrawal from anti-seizure medications (ASMs) or reduction in their dosage during the peri-vaccination period were significantly associated with the recurrence of seizures (odds ratio= 7.384, 95% confidence interval = 1.732–31.488, P = 0.007). In addition, 32 of 33 patients (97.0%) who were seizure-free for more than three months before vaccination and had a normal electroencephalogram before vaccination did not have any seizures within 14 days of vaccination. A total of 92 (22.6%) patients experienced non-epileptic adverse reactions after vaccination. Binary logistic regression analysis results showed that vaccine did not significantly affect the recurrence rate of PWE who had the behavior of ASMs dose reduction or withdrawal ( P = 0.143). Conclusions::PWE need protection from the COVID-19 vaccine. PWE who are seizure-free for >3 months before vaccination should be vaccinated. Whether the remaining PWE should be vaccinated depends on the local prevalence of COVID-19. Finally, PWE should avoid discontinuing ASMs or reducing their dosage during the peri-vaccination period.

Objective:To study the effect of sublingual immunotherapy on children with mite allergic rhinitis.Methods:Four hundred and ninety patients with mite allergic rhinitis have been recruited by Beijing Children′s Hospital from March 2014 to September 2019 and divided into 4 groups of young children group, different treatment duration group, individualized dose adjustment group and multiple allergy evaluation group, the clinical scores of total nasal symptoms score (TNSS), visual analogue scale scores (VAS) and total medication score were recorded at the first visit, 12 months, 24 months and 36 months after treatment, and the combined symptom and medication score(CSMS) score was calculated.Results:A total of 374 patients (76.32%) completed this study.Among them, the CSMS(2.20±1.61, 2.50±1.78), TNSS(2.80±2.32, 3.60±2.71) and VAS(3.50±1.16, 3.90±1.43) in ≤3-year-old group and children over 3-year-old group of young children set after use of 12 months were significantly lower than the score at the first time of diagnosis (respectively CSMS: 4.50±1.44, 5.30±1.32; TNSS: 6.20±1.89, 7.50±2.19; VAS: 5.40±2.33, 5.90±1.61). In addition, in the duration and efficacy set, the patients who completed the immunotherapy for 36 months can only be observed in the 3-year group, the scores were TNSS(0.90±0.97), VAS (1.30±1.19), CSMS (1.70±1.28); the scores of patients who completed the immunotherapy for 24 months in 2-year group and 3-year group were TNSS (2.10±0.95, 2.00±0.97), VAS (3.00±1.56, 3.10±1.68) and CSMS (3.10±1.15, 2.90±1.19) and the patients who completed 12-month immunotherapy were scored in 1-year group, 2-year group and 3-year group with TNSS(3.20±1.27, 3.10±1.41, 3.20±1.41), VAS(4.50±2.11, 4.70± 2.19, 4.50±2.17) and CSMS(4.20±1.39, 3.70±1.32, 4.10±1.39) respectively; patients with poor efficacy in sublingual immunotherapy achieved a score similar to the control group after 6 months of dose adjustment (equals to 12 months after treatment), that were CSMS(2.90±1.56, 2.90±1.88, 2.40±1.69), TNSS(4.70±2.98, 3.90±2.77, 3.80±2.45) and VAS(4.20±1.29, 4.50±1.65, 4.20±1.14) of 4 drops group, 5 drops group and control group; sublingual immunotherapy for patients with multiple allergens for 2 years finally achieved similar efficacy to patients with single allergen, with CSMS (2.30±0.50, 2.10±1.01, 1.90±1.01), TNSS (3.50±2.62, 3.70±2.62, 3.20±2.82) and VAS (4.50±1.00, 4.10±1.57, 3.80±1.54) in single allergen group, combined with 1-2 allergens group and combined with 3+ allergens group.Conclusions:Sublingual immunotherapy plays a corresponding role in the treatment of low-age children, multiple allergy children, and some children get better after dose adjustment.

Objective:To analyze the serum anti-Müllerian hormone (AMH) levels in women of childbearing age in different age groups in Henan, and establish the medical reference intervals based on measurement results from this population.Methods:From January to June 2017, 620 healthy women of childbearing age (20-34 years old), who underwent pre-pregnancy eugenics and pre-marital checkups in 13 project sites in Henan, were included in this study. Participants were divided into 3 age groups: 20-24 years group ( n=210), 25-29 years group ( n=207), and 30-34 years group ( n=203). Spearman correlation coefficient was used to evaluate the correlation between serum AMH level and age; Kruskal-Wallis H test was used to compare the serum AMH levels of different age groups; Wilcoxon test was used for comparison between pairs; the percentile method ( P2.5, P97.5) was used to establish medical reference interval of serum AMH in women of childbearing age for the whole population and different age groups, respectively. Results:The correlation coefficient between serum AMH and age in women of childbearing age (20-34 years old) is -0.17 ( P<0.001). There was a statistically significant difference in the overall frequency distribution of serum AMH levels among the three different age groups ( H=21.978, P<0.05). Among them, there is a statistically significant difference between the 20-24 years group and the 30-34 years group ( Z=4.292, P<0.05). There is a statistically significant difference between the 25-29 years group and the 30-34 years group ( Z=3.803, P<0.05). The reference range of serum AMH is 0.281-9.693 μg/L in this cohort; the reference range of serum AMH is 0.524-10.760, 0.229-9.200, 0.115-8.200 μg/L for women of childbearing age at 20-24, 25-29 and 30-34 years, respectively. Conclusion:The serum AMH level of women of childbearing age (20-34 years old) decreases with age. It is of great significance to establish the serum AMH reference interval for women of childbearing age in different age groups in Henan.

Objective:To explore the surgical effect and experience of endoscope-assisted excision for congenital nasal dermoid and sinus cyst (NDSC) in children.Methods:Fifty-three patients with congenital NDSC treated in Beijing Children′s Hospital from January 2007 to December 2018 were retrospectively reviewed, including 30 boys and 23 girls, with the age ranging from 9 to 145 months (mean age 35.6 months). The ultra-low-dose CT scan and MRI of the paranasal sinuses were performed for all patients. Excisions of NDSC under general anesthesia were performed for all patients, and surgical approaches were dependent on location and extent of the lesions according to radiographic workups. All intra-osseous patients and complicated superficial cases underwent surgical excision of NDSC and nasal reconstruction with the assistance of endoscope. Initial presentation, medical history, imaging workups, surgical approaches, complications, rates of recurrence and cosmetic outcomes were evaluated. Descriptive statistics was used for the results analysis.Results:Among 53 cases, the most common presentation included a nasal-glabella mass ( n=21, 39.6%), a dorsal punctum ( n=13, 24.5%) and a dorsal mass ( n=9, 17.0%). The sites of NDSC included nasal glabella ( n=22, 41.5%), nasal bridge ( n=27, 50.9%) and nasal tip ( n=4, 7.5%). Of all patients, 24 cases (45.3%) had superficial lesions, 19 cases (35.8%) had intraosseous extension into the frontonasal bones, 10 cases (18.9%) extended intracranially but remained extradural. Surgical approaches included transverse incision ( n=22, 41.5%), minimal midline vertical incision ( n=27, 50.9%) and external rhinoplasty ( n=4, 7.5%). All NDSC were successfully excised and no nasal reconstruction needed. All cases were followed up from 9 to 151 months with a mean of 67.3 months. Five patients (9.4%) with recurrence were observed and were managed successfully with reoperation. During the follow-up, no nasal deformity was noted, and cosmetic outcome was favorable for all patients. Conclusion:Endoscope-assisted excision has the advantage of clear vision, small trama and low recurrence rate for children with NDSC.

Objective:To systematically review the relationship between PTGER 4 genetic polymorphisms and the risk of inflam-matory bowel disease (IBD).Methods:All eligible case-control studies which published up to February 29,2016 were searched by PubMed,Embase,Web of Science.The studies in accordance with high quality were included in this study .We synthesized pooled odds ratio ( OR) and its 95%confidence interval ( CI) using STATA12.0.The sensitivity analysis was used to determine the stability of re-sults in meta-analysis.The Egger′s analysis was performed to evaluate the publication bias .Results:Twenty original publications invol-ving 44 case-control studies were included in this study ,in which 25179 patients with Crohn′s disease (CD),5261 patients with ulcer-ative colitis ( UC) and 44652 control subjects were detected .The allelic frequency ,additive model ,dominant model and recessive mod-el were used to analyze the association of rs 4613763 T/C polymorphism and CD ,and the pooled OR and 95%CI were as followings:1.24 (1.06-1.45),1.32 (1.06-1.64),1.25 (1.06-1.48),1.28 (1.03-1.59).For rs17234657T/G polymorphism and CD,the pooled OR (95%CI) of four genetic models were 1.35 (1.28-1.47),2.12 (1.70-2.63),1.46 (1.36-1.57) and 1.90 (1.54-2.35),re-spectively.For rs4495224A/C polymorphism and CD,the pooled OR(95%CI) were 1.05 (0.79-1.41),1.08 (0.62-1.88),1.12 (0.75-1.65) and 1.00 (0.67-1.49).And the pooled OR (95%CI) were 0.77 (0.67-0.88),0.59 (0.51-0.69),0.73 (0.61-0.87),0.68 (0.59-0.79) for rs9292777G/T polymorphism and CD.For rs1373692T/G polymorphism and CD,the pooled OR (95%CI) were 1.23 (0.96-1.57),1.39 (0.74-2.59),1.26 (0.74-2.13),1.31 (1.00-1.72).The pooled OR (95%CI) of allelic fre-quency , additive model , dominant model and recessive model for the association of rs 4613763 T/C polymorphism with UC were 1.30 (1.17-1.44 ), 1.73 ( 1.16-2.59 ), 1.32 ( 1.17-1.48 ), 1.64 ( 1.10-2.45 ), respectively.Conclusion: Polymorphisms of rs17234657T/G,rs4613763T/C and rs9292777G/T are associated with CD.Polymorphism of rs4613763T/C is associated with UC sus-ceptibility.