Objective:To investigate the effects of modified endoscopic retrograde appendicitis therapy (mERAT) on the treatment of children with different severities of acute appendicitis.Methods:This study was a case-control study. A total of 586 children with acute appendicitis, who were admitted to the Pediatric Department of Second Affiliated Hospital of Air Force Medical University between January 2019 and November 2023, were selected as the research subjects. According to the severity of the disease, the patients were divided into simple appendicitis group, suppurative appendicitis group and perforated appendicitis group. The baseline data, hospitalization treatment and costs, outcomes, and recurrence in each group were analyzed, and the difference in the effectiveness of mERAT between the groups were compared by Kruskal-Wallis H test and χ2 test. Results:Among 586 children, there were 338 males and 248 females. The age at onset was 7.0 (4.6, 9.4) years. There were 475 cases of simple appendicitis, 78 cases of suppurative appendicitis, and 33 cases of perforated appendicitis. There were no significant differences in age and gender among the three groups ( F=0.59, χ2=3.31, both P>0.05). However, there were statistically significant differences in body temperature, white blood cell counts, neutrophil percentage, lymphocyte percentage, nausea or vomiting, right lower abdominal pain, umbilical pain, right lower abdominal tenderness, and right lower abdominal rebound pain ( H=7.56, 161.52, 169.11, and 169.61, χ2=12.05, 13.82, 12.05, 7.74, 20.35, and 94.61, all P<0.05). Also, the treatment time, postoperative hospital stay, total hospital stay, and cost showed statistically significant differences ( H=4.70, 33.66, 34.99, 30.37, all P<0.05). There was no significant difference in the initial treatment success rate (98.1% (466/475) vs. 98.7% (77/78) vs. 90.9% (30/33), P=0.057). During the 30 (23, 36) months of follow-up, the recurrence rate was 7.9% (35/433) in the simple appendicitis group, 20.8% (15/72) in the suppurative appendicitis group, and 30.0% (9/30) in the perforated appendicitis group, with a statistically significant difference ( χ2=23.56, P<0.001). Among the children with recurrent appendicitis, 15 cases still chose mERAT, of them 11 cases (31.2%) had simple appendicitis, 2 cases (2/15) had suppurative appendicitis, and 2 cases (2/9) had perforated appendicitis.The latest time to recurrence in the 3 groups was 32, 35 and 10 months, respectively. Conclusion:Treatment with mERAT has a good effect in pediatric simple appendicitis, but has a higher recurrence rate despite a better initial treatment success rate in suppurative appendicitis and perforated appendicitis.

Objective:To explore the correlation between functional constipation （FC）and its related factors with acute appendicitis（AA）in children，so as to provide a reference for the prevention and clinical diagnosis and treatment of children with AA. Methods:A case-control study was conducted on 170 children diagnosed with AA in the Department of Pediatrics，the Second Affiliated Hospital of Air Force Military Medical University，from August 2022 to March 2023，and 170 non-AA children during the same period were selected as control objects.The clinical data，incidence of FC，symptoms related to FC，Bristol stool classification，past constipation history and other information were compared between two groups.Results:The incidence of FC in 170 children with AA was 22.9%（39/170），which was significantly higher than 10.6%（18/170）in the non-AA group（ P<0.01）；For children under four years old，the proportion of faecal retention in AA group was higher than that in non-AA group（25.6% vs. 9.3%, P<0.05）；For children ≥ 4 years old，the proportion of faecal retention and dyschezia in AA group were higher than those in non-AA group（28.2% vs. 6.9%，29.0% vs. 16.4%，respectively,all P<0.05）.The proportion of past constipation history in AA group was higher than that in non-AA group（29.4% vs.14.1%）.The duration of constipation in AA group was longer than that in non-AA group [0.00（0.00，1.25）month vs. 0.00（0.00，0.00）month,all P<0.01].The proportion of children with low Bristol stool classification in AA group was higher than that in non-AA group（ P<0.01）.Multivariate Logistic regression analysis showed that faecal retention[ OR=6.186（95% CI 2.336~16.380）] and long constipation time [ OR=1.310（95% CI 1.095~1.567）]were independent risk factors for AA in children（all P<0.05）. Conclusion:The incidence of faecal retention in children with AA is higher than that in children without AA，and the median duration of constipation is longer than that in children without AA.Fecal retention and long-term constipation are independent risk factors for AA in children.

Objective To observe the clinical efficacy of low-dose dobutamine combined with tolvaptan in the treatment of type Ⅰcardiorenal syndrome.Methods A total of 104 patients with type 1 cardiorenal syndrome admitted to the Department of Cardiology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University of Medicine were selected as study subjects.The patients were randomly divid-ed into control group and experimental group,52 patients in each group.The control group which accepted oral tolvaptan 15mg,and the experimental group which accepted the treatment of low-dose of dopamine[2μg/(kg·min)]with intravenous infusion,and they were treatment for 7d.The primary endpoint was the cardiorenal serological index after 7days of treatment.Results After treatment,the total effective rates of experimental group and control group were 86.53％(45/52)and 67.30％(35/52),respectively,and the difference was statistically significant(P＜0.05).After treatment,the serological levels of cardiorenal functions and 12h urine volume were more significantly improved in two groups,and the improvement effect of experimental group was better than that of control group,the difference was statistically significant(P＜0.05).The levels of serum inflammatory cytokines after treatment were significantly lower than before treatment,and the difference was statistically significant(P＜0.05).Conclusion Low-dose dopamine combined with tolvaptan in treating type 1 cardio-renal syndrome can significantly improve patients'cardiac and renal function.

Objective:To explore the clinical application of magnetic foreign body extractor in metal foreign body of upper digestive tract children.Methods:The clinical data of 115 children with metallic foreign bodies in the upper digestive tract who were admitted to the Department of Pediatrics, the Second Affiliated Hospital of Air Force Medical University, from January 2017 to September 2022, were selected as subjects.All the metallic foreign bodies were removed by a self-made metallic foreign body extractor in the department.The clinical characteristics of the metallic foreign bodies in the upper digestive tract were comprehensively analyzed by using descriptive analysis methods, summarize the age, gender, metallic foreign body type, number of the metallic foreign bodies, incarcerated location, retention time, clinical symptoms and complications.Results:A total of 115 children with metallic foreign bodies in the upper digestive tract were included in the analysis, involving 51 males and 64 females, with a mean age of (3.63±2.28) years.The majority was children aged 0-3 years (68/115, 59.1%). Coins (86 cases, 74.8%) were the major foreign bodies in metal foreign body of upper digestive tract, followed by button batteries (11 cases, 9.6%), magnetic balls (8 cases, 7.0%), and others (10 cases, 8.6%). The main clinical symptoms were nausea, vomiting, abdominal pain, chest pain, and foreign body sensation, and button battery ingestion and magnetic balls were easy to produce complications.The primary retention sites of metallic foreign bodies were the gastric fundus (75 cases, 65.2%), followed by upper esophageal segment (38 cases, 33.0%) and lower esophageal segment(2 cases, 1.7%).Conclusions:In children′s metal foreign body of upper digestive tract, coins are the most common foreign bodies that are easily retained in the stomach fundus.Button batteries are prone to cause severe complications and should be removed timely.The self-made metallic foreign body extractor in our department can remove coins, batteries, magnetic balls, nails, chains, party emblems and other metallic foreign bodies.It can shorten the operation time, improve the removal efficiency, and featured by active search, strong adsorption, no mucosal damage and removal with the endoscope, which can be widely used in the clinical treatment of metallic foreign bodies.

Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs. Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of the SMC1A gene.

Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.

To investigate the efficacy and safety of modified endoscopic retrograde appendicitis therapy (ERAT) in children with acute uncomplicated appendicitis complicated with intussusception. Data of 6 patients with acute uncomplicated appendicitis complicated with intussusception who received modified ERAT were collected from October 2018 to February 2020 in Pediatrics Department of Tangdu Hospital. The reduction rate of intussusception, the success rate of ERAT appendiceal intubation and endoscopic treatment, the remission time of clinical symptoms, the time of white blood cells return to normal, the length of hospital stay, complications and recurrence were summarized. All the 6 patients were confirmed to be acute uncomplicated appendicitis combined with ileocecal intussusceptions under colonoscopy. Endoscopic intussusception reduction and ERAT were performed successfully. The mean time of disappearance of abdominal tenderness was 1.3 days after the therapy, and the time of white blood cells return to normal was 1 day after surgery. The endoscopic treatment were all successful and the length of hospital stay was 3-6 days. No complications or recurrence of intussusception and appendicitis occurred during the follow-up period of 6-12 months. Modified ERAT can effectively, safely and minimally invitingly treat acute uncomplicated appendicitis with intussusception in children on the basis of definite diagnosis.

Objective:To summarize the clinical and gene mutation characteristics of a child with Cowden syndrome and review the literature.Methods:The clinical data of a child with Cowden syndrome treated in the First Affiliated Hospital of Xinxiang Medical University in June 2020 were analyzed retrospectively.Taking " Cowden syndrome" , " PTEN gene" , " hamartoma polyps" , "child" , " Cowden syndrome and child" and " PTEN and child" as key words, literature was retrieved from Chinese databases (China National Knowledge Internet database and Wanfang database) and the PubMed database from the establishment of the database to March 2021. Results:A 13-year-old male had intermittent abdominal pain and abdominal distension for 5 months.Electron microscopic gastroenteroscopy showed multiple polyps, and focal lymphocyte aggregation and infiltration were found in tissue biopsy.Whole exon sequencing revealed a hemizygous mutation of c. 475 (exon5) A>T in PTEN gene, which led to the transformation of the 159 th amino acid from arginine to tryptophan.The prediction results of the tertiary structure of the protein indicated that the variation might affect the spatial structure of the protein and damage the protein function.According to the clinical characteristics, Cowden syndrome was diagnosed.The pedigree confirmed that the variation was inherited from the mother, who had a similar phenotype.No qualified Chinese report was retrieved.Among 41 English studies on PTEN gene mutation in children, there were only two reports related to pediatric Cowden syndrome.The hemizygous mutation of PTEN gene was not reported. Conclusions:The missense mutation of c. 475 (exon5) A>T in PTEN gene in this study is a novel cause of Cowden syndrome, and the case is the first case report in China.

Objective:To report a SPTLC2 gene mutation in a family with a phenotype of Charcot-Marie-Tooth disease.Methods:To screen the family of patients with pathogenic mutations of SPTLC2 gene from the database of hereditary peripheral neuropathy in the Department of Neurology, Peking University First Hospital, and to collect their clinical data, peripheral nerve conduction examination, nerve ultrasound examination, pathological examination of the peroneal nerve and whole exome sequencing results of prohand.Results:One family was screened, the proband was a 16-year-old female with 4 years of sensory loss and anhidrosis of both lower limbs and 16 months of walking difficulty who admitted to Peking University First Hospital in January 2022. Physical examination showed sensory loss, dry skin and weakness in distal limbs. Her father had numbness and dry skin in the distal lower limbs from childhood,weakness and atrophy of his lower limbs in adulthood. He died at age of 52 years old. The nerve conduction study revealed no action potentials of the sensory and motor nerves of the lower limbs in the proband. The amplitude of the compound muscle action potential of the motor conduction of the bilateral ulnar nerve and median nerve decreased, and the nerve conduction velocity of the bilateral median nerve were 32 m/s and 24 m/s. Neurosonography showed thickening of peripheral nerves. Sural biopsy revealed severe loss of myelinated and unmyelinated nerve fibers with onion bulbs formation. SPTLC2 gene showed a known heterozygous p.G435V mutation. The lower limb weakness was improved after oral L-serine.Conclusions:SPTLC2 gene mutation can lead to an intermediate Charcot-Marie-Tooth disease phenotype. L-serine can improve the limb weakness.

Objective    To investigate the multidisciplinary management of patients with acute type A aortic dissection in late pregnancy. Methods    The clinical data of 3 patients admitted to the Second Affiliated Hospital of Army Medical University from 2018 to 2019 were analyzed. Their age ranged from 27 to 32 years, while gestational age was 34-37 weeks. Sudden chest pain was the main clinical symptom before operation. All 3 patients underwent Bentall surgery after cesarean section under general anesthesia, of whom 2 patients received total arch replacement (TAR) combined with frozen elephant trunk (FET) implantation and 1 received coronary artery bypass grafting (CABG) additionally. Results    No patient died during the perioperative period, and all the newborns were delivered successfully and survived healthily. The ICU stay was 3-5 d. The postoperative hospital stay was 15-18 d. The follow-up was 250-751 d. There was no recurrence or death. One patient who developed spontaneous pneumothorax and hydropneumothorax was cured in our center. Conclusion    The multidisciplinary diagnosis and treatment strategy plays a crucial role in saving the life of pregnant patients with acute type A aortic dissection.