Objective:To analyze the clinical characteristics of eosinophilic lung diseases(ELD) in children to enhance pediatricians′ understanding of ELD.Methods:In this retrospective cross-sectional study, a total of 149 children with ELD were recruited from Beijing Children′s Hospital, Capital Medical University between April 1, 2007 and March 31, 2022.Chi-square test, Fisher′s exact test, Mann-Whitney U test and Kruskal-Wallis test were used to analyze data and conclude clinical characteristics.Spearman correlation was used to analyze the correlation between eosinophils in peripheral blood and bronchoalveolar lavage fluid.Chi-square test and Kappa consistency test were used to compare the differences and consistency in diagnostic results between bronchoalveolar lavage fluid or lung biopsy and eosinophil elevation with chest imaging abnormalities. Results:(1)The isolated lung involvement was mostly caused by allergic bronchopulmonary aspergillosis(9 patients), and other system involvement by idiopathic hypereosinophilic syndrome(89 patients).(2)The main respiratory manifestations included coughing(90 cases, 60.4%) and expectoration(41 cases, 27.5%), while 23.5%(35 cases) of patients had no respiratory symptoms; 50.3% had digestive system involvement, and 40.9% had skin involvement.These were the two most commonly affected organs.(3)Spearman correlation was performed between eosinophils in peripheral blood and bronchoalveolar lavage fluid( r=0.3, P<0.05).Chi-square test was performed to compare ELD diagnosed by bronchoalveolar lavage fluid or lung biopsy with peripheral blood eosinophilia accompanied by abnormal chest imaging( P<0.05).Kappa consistency test(Kappa<0.2) showed poor consistency between the two diagnostic methods. Conclusions:ELD are present in children, and multiple etiologies may be pathogenic.Among children with ELD, the isolated lung involvement is mainly caused by allergic bronchopulmonary aspergillosis.The digestive system and skin are the most commonly affected organs, except for lungs.The correlation between eosinophil levels in peripheral blood and bronchoalveolar lavage fluid is poor.

Objective:To analyze the clinical characteristics, treatment course and prognosis of children with intermediate-high risk pulmonary embolism.Methods:The clinical data of 48 children with pulmonary embolism treated in Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2021 were analyzed retrospectively.Including 12 intermediate-high risk cases and 36 low-risk cases.The clinical manifestations, laboratory results, treatment and prognosis were compared between groups by the t-test, rank sum test and Chi- square test with the yates continuity correlation or Fisher′ s exact test. Results:There were no significant differences in the sex and age between the intermediate-high risk group and the low-risk group.The proportions of patients with shortness of breath, dyspnea, cyanosis or hypoxemia were higher in the intermediate-high risk group than those of in low-risk group.Twelve children in the low-risk group did not have specific symptoms of pulmonary embolism.There were no significant differences in the D-dimer level, and the distribution of pulmonary embolism between the two groups (all P>0.05). However, the proportion of children with other thromboembolism in the intermediate-high risk group was significantly higher than that of the low-risk group, among which heart thrombosis was the most common (7 cases). There were no significant differences in the underlying diseases and thrombophilia between the two groups (all P>0.05). The treatment of the intermediate-high risk group was more active: 6/12(50.00%) patients in the intermediate-high risk group received reperfusion treatment, including 3 cases of systemic thrombolysis, 1 case of catheter thrombolysis, and 2 cases of thrombectomy.In the low-risk group, only 1 case was treated with systematic thrombolysis.Unfavorable outcomes were reported in 3/48 (6.25%) patients, including 1 death of massive bleeding after catheter-directed thrombolysis in the acute phase, 1 case of recurrent pulmonary embolism after self-decided withdrawal and 1 case of progression of pulmonary embolism that was managed by surgical thrombectomy, all of whom were in the intermediate-high risk group. Conclusions:Shortness of breath, dyspnea, cyanosis or hypoxemia and co-existed venous thromboembolism were more common in intermediate-high risk cases.The treatment regimen of was more aggressive, but the incidence of unfavorable outcomes was higher in intermediate-high risk group; further research is needed to determine the risk factors for intermediate-high risk pulmonary embolism in children.

Objective:To analyze the clinical characteristics of pulmonary vein stenosis (PVS) in children, and to explore its treatment and prognostic factors.Methods:The clinical data of 19 children with PVS treated in Beijing Children′s Hospital, Capital Medical University from October 2016 to March 2022 were analyzed retrospectively.There were 16 males and 3 females.The median age at diagnosis was (2.81±1.95) years.A descriptive analysis of clinical characteristics of children was made.Results:Of the 19 children, 14 cases (73.7%) had primary PVS and 5 cases (26.3%) had secondary PVS after surgery of anomalous pulmonary venous connection (APVC). Thirteen children (68.4%) had hemoptysis.In the hemoptysis children, 5 cases had life-threatening massive hemoptysis, and 11 cases (57.9%) had a history of recurrent respiratory tract infection or pneumonia.Other manifestations of hemoptysis included failure to thrive (6 cases), cyanosis (5 cases), and dyspnea (3 cases). Complications were pulmonary hypertension (6 cases) and right heart failure (3 cases). There were 16 cases (84.2%) of unilateral PVS and 3 cases of bilateral PVS.Interlobular septal thickening, grid shadow and ground glass opacities were found on CT of all PVS cases.Ten cases underwent surgery, and 2 cases of them received angioplasty, but restenosis occurred in both of them.Eight children underwent pulmonary lobectomy, and their clinical symptoms were all relieved after operation.Nine patients were treated conservatively, and 3 cases of them died of bilateral PVS secondary to APVC.The remaining 6 alive cases still had intermittent clinical symptoms during follow-up.Conclusions:Hemoptysis and recurrent respiratory tract infection are the main clinical manifestations of PVS in children, and life-threatening massive hemoptysis can occur.Lobectomy is an effective treatment for unilateral PVS.The prognosis of secondary PVS after APVC is poorer and its mortality is higher, compared with primary PVS.

OBJECTIVE: To review targeted muscle reinnervation (TMR) surgery for the construction of intelligent prosthetic human-machine interface, thus providing a new clinical intervention paradigm for the functional reconstruction of residual limbs in amputees. METHODS: Extensively consulted relevant literature domestically and abroad and systematically expounded the surgical requirements of intelligent prosthetics, TMR operation plan, target population, prognosis, as well as the development and future of TMR. RESULTS: TMR facilitates intuitive control of intelligent prostheses in amputees by reconstructing the "brain-spinal cord-peripheral nerve-skeletal muscle" neurotransmission pathway and increasing the surface electromyographic signals required for pattern recognition. TMR surgery for different purposes is suitable for different target populations. CONCLUSION TMR surgery has been certified abroad as a transformative technology for improving prosthetic manipulation, and is expected to become a new clinical paradigm for 2 million amputees in China.
Humans ; Artificial Limbs ; Muscle, Skeletal ; Neurosurgical Procedures ; Plastic Surgery Procedures ; Prosthesis Implantation

Background/Aims: Endoscopic wound suturing is an important factor that affects the ability to remove large and full-thickness lesions during endoscopic resection. We aimed to evaluate the effect of a traction metal clip with a fishhook-like device on wound sutures after endoscopic resection. Methods: From July 2020 to April 2021, patients who met the enrollment criteria were treated with a fishhook-like device during the operation to suture the postoperative wound (group A). Patients with similar conditions and similar size wounds who were treated with a “purse-string suture” to suture the wounds were retrospectively analyzed as the control group (group B). Difference in the suture rate, adverse events, time required for suturing, and number of metal clips were compared between the two groups. Results: The time required for suturing was 7.72±0.51 minutes in group A and 11.50±0.91 minutes in group B. This difference was statistically significant (F=13.071, p=0.001). The number of metal clamps used in group A averaged 8.1 pieces/case, and the number of metal clamps used in group B averaged 7.3 pieces/case. This difference was not statistically significant (F=0.971, p>0.05). Conclusions The traction metal clip with the fishhook-like device is ingeniously designed and easy to operate. It has a good suture effect on the wound after endoscopic submucosal dissection and effectively prevents postoperative adverse events.

Objective:To evaluate the efficacy of bedside gastric ultrasound in guiding enteral nutrition therapy in the patients with spontaneous cerebral hemorrhage.Methods:Sixty-one patients with spontaneous intracerebral hemorrhage in the intensive care unit (ICU) of our hospital, aged 18-60 yr, with the European malnutrition risk screening score in 2002 was ≥ 3, who could not eat orally, were selected.All patients received decompression or aneurysm clipping under general anesthesia.Patients were divided into 2 groups using a random number table method: control group ( n=30) and ultrasound group ( n=31). Nutrient infusion pump was used to infuse standard whole protein formula enteral nutrition continuously through a nasogastric tube.In control group, gastric residual volume, residual traits and bowel sounds were evaluated according to gastric drainage to start or adjust enteral nutrition treatment.In ultrasound group, the antral motility index and gastric residual volume were monitored by the modified antral single section method under ultrasound to start or adjust enteral nutrition treatment.The starting time of enteral nutrition, time to reach the target feeding amount, rate of reaching the target feeding standard within 96 h, interruption of enteral nutrition, duration of hospitalization in ICU, and occurrence of intraperitoneal hypertension, aspiration, diarrhea, gastrointestinal bleeding and new pulmonary infection during enteral nutrition therapy were recorded. Results:Compared with control group, the initiation time of enteral nutrition and time to reach the target feeding amount were significantly shortened, the interruption rate of enteral nutrition was decreased, the rate of reaching the target feeding standard within 96 h was increased, the incidence of aspiration and new pulmonary infection was decreased ( P<0.05), and no significant change was found in the duration of hospitalization in ICU and incidence of intraperitoneal hypertension, diarrhea and upper gastrointestinal bleeding in ultrasound group ( P>0.05). Conclusions:Bedside gastric ultrasound-guided enteral nutrition therapy can improve the therapeutic effect with higher safety in the patients with spontaneous intracerebral hemorrhage.

Objective:To summarize the clinical features of children with autosomal dominant hyper-IgE syndrome (AD-HIES) and the differential diagnosis of hyper-IgE syndrome and allergic diseases as well.Methods:All clinical data, including general information, clinical features, and genetic changes, from 7 children with AD-HIES who were diagnosed in Beijing Children′s Hospital Affiliated to Capital Medical University from April 2016 to June 2020 were analyzed retrospectively.The diagnostic criteria are based on the National Institutes of Health′s (NIH)′s hyper-IgE syndrome score and combined with the results of gene detection, shown as follows: (1) NIH score over 40, with signal transducer and activator of transcription 3 gene ( STAT3) pathogenic mutation; (2) NIH score between 20 and 40, with reported STAT3 pathogenic mutation; (3) NIH score less than 20 points was excluded. Results:There were 3 males and 4 females.The onset age of 7 cases was within 2 months after birth, and the mean age at diagnosis was 3 years old.All seven cases had recurrent skin or lung infections, with 4 cases having skin and lung infections, 1 case of skin abscesses at the BCG vaccination site, and 2 cases without skin infection suffering from recurrent pneumonia.The mean onset age of skin abscess in 5 cases was 1.5 years, and pus culture of 3 cases were Staphylococcus aureus.Four cases developed bullae and 6 cases had lung infections.Four cases had otitis media, and oral thrush was seen in 4 cases.One case of skin and lung infection developed liver abscess and sepsis.Seven cases had eczema, which was disco-vered in the neonatal period for 6 cases.Four cases had the symptoms of eczema for the first visit.Two cases had food allergy, and 1 case had recurrent wheezing within 1 year old.The serum IgE level and blood eosinophil count in 7 children were elevated.All children had heterozygous pathogenic mutations in STAT3.Six patients had de novo mutations.There were 6 different mutation sites.The 4 mutation sites were reported: c.1145G>A, c.1144C>T, and c. 1699A>G were missense mutations, and c. 1139+ 5G>A was splicing mutation.Two mutation sites had not been reported: c.1031A>C was missense mutation, and c. 2050G>T was nonsense mutation.The pathogenic grade of them were likely pathogenic, and the NIH score of 2 cases were above 40 score, which was consistent with the clinical diagnosis of hyper-IgE syndrome. Conclusions:Eczema is a common and early clinical manifestation of hyper-IgE syndrome, along with elevated IgE levels and eosinophil counts that need to be differentiated from allergic diseases.On the contrary, it often had recurrent skin abscesses or pneumonia, which was prone to bullae.The clinical manifestations of young children were atypical, and genetic testing was helpful for early diagnosis.

TORCH, which is considered as a series of pathogens, including the Toxoplasma gondii, Rubella virus, Cytomegalovirus or Herpes simplex virus, often infects the pregnant women to induce the the fetus or newborn infection by transplacental infection or exposure to contaminated genital tract secretions at delivery. Increasing evidence have been confirmed that the infection of TORCH may cause the miscarriage, premature birth, malformed fetus, stillbirth, intrauterine growth retardation, neonatal multiple organ dysfunction and other adverse pregnancy outcomes. For most TORCH-infections cases may lacking the effective treatments during pregnancy, and it is important to achieve the effacing monitoring of TORCH infections before and during pregnancy. The laboratory testing of TORCH has the great significance. However, the consensus opinions still need to improve the the standardization of TORCH testing process and the correct interpretation. Based on the characteristics of the TORCH detection method, this article gives a consensus opinion on the standardized detection and clinical application of TORCH from the laboratory perspective according to the characteristics and types of infection of different pathogens.

Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease (SCID). Methods The clinical data of atypical SCID in 7 children with IL2RG,JAK3,and RAG1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases (6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK3 mutation with c.3097-1G>A/c.946-950GCGGA>ACinsGGT.Cases 2,3,and 4 had IL2RG mutations,with c.865C>T/p.R289X,c.664C>T/R222C,52delG,respectively.Case 5 had JAK3 mutations with c.2150A>G/p.E717G and c.1915-2A>G.Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N. Case 7 had homozygous RAG1 mutation with c.2095C>T/p.R699W.Conclusion Under certain conditions,gene mutation can lead to atypical clinical and/or immune phenotypic SCID.

Objective To study the genetic mutation of surfactant dysfunction in children with interstitial lung disease.Methods The surfactant protein B (SFTPB),surfactant protein (SFTPC),ATP binding cassette transporter A3 (ABCA3) gene sequence detection were conducted for 26 patients with interstitial lung disease who were onset before 2 years old or without specific etiology after the biopsy during January 2012 to December 2017 in Beijing Children's Hospital Affiliated to Capital Medical University,then the result of gene sequence detection and the clinical data were analyzed.The method of gene analysis is PCR amplify and Sanger sequencing.Results (1) In total,4 cases of abnormal gene mutations had been found,of which 3 cases were pathogenic SFTPC gene mutations,such as c.218T ＞ C,IVS4,+ 1G ＞ C,c.115G ＞ T,1 case was ABCA3 compound heterozygous mutations,such as C.3913 T ＞ C and heterozygous deletion in Exon 13-18.(2)There were also 7 uncertain or suspected cases.Four cases were undefined pathogenic SFTPC mutations,such as c.406G ＞ C,IVS4,+ 12 G ＞ G,c.364T ＞ C,c.68G ＞ A.Three cases had been found with two ABCA3 heterozygous gene mutations,which were not confirmed by parents.The lung pathology of the patient with SFTPC (IVS4,+ 12 T ＞ G) and heterozygous ABCA3 (c.737C ＞ T)gene mutations was amyloidosis,and there was similar history in his family.(3) No pathogenic gene mutation was found in the 15 cases.No pathogenic SFTPB gene mutation was found in all the patient.Lung biopsy was performed in 2 cases of SFTPC c.115G ＞ T and ABCA3 compound heterozygous mutation,the lung tissue of this 2 cases were nonspecific interstitial pneumonia (NSIP).One case of SFTPC c.115G ＞ T had died at the age of 14 years old and 1 case of IVS4,+ 1G ＞ C had died at the age of 11 months old.Only 1 case of SFTPC c.218T ＞ C gene mutation with the similar family history,had improved significantly after glucocorticoid treatment,another case of ABCA3 compound heterozygous mutation was mildly improved after the glucocorticoid treatment.The chest CT/high resolution computed tomography displayed diffuse ground glass opacity in 4 cases,and cystic in 2 cases,all 2 cases with cystic were cases of SFTPC mutation and were dead.Conclusions The gene mutation of surfactant dysfunction is associated with interstitial lung disease in children.The pathology feature can be NSIP,and the prognosis may be poor in some cases,and the treatment of the corticosteroids may be effective in few case.