Objective To explore the effect of open reading frame 66(C12ORF66)located at chromosome 12 on the viability of MYCN amplified NB cell lines.Methods DDatasets GSE16476 and GSE49710 in R2 database were analyzed for expression level of C12ORF66 in MYCN amplified and MYCN non-amplified NB cells and its potential correlation with the prognosis of pediatric patients.C12ORF66 mRNA expression level in normal tissue immortalized cell lines,MYCN amplified and MYCN non-amplified cell lines were detected by RT-qRCR.Transient or stable knockdown of C12ORF66 cell lines were constructed to compare the difference in real time cellular analysis(RTCA),colony formation,Ki67 positive cells between the control group and the C12ORF66 knockdown group.Results By analyzing R2 datasets,C12ORF66 level in MYCN amplified samples was significantly higher than that in MYCN non-amplified samples,and the expression of C12ORF66 was negatively correlated with the prognosis of pediatric patients(P＜0.05).C12ORF66 highly expressed in MYCN-amplified BE(2)-C and SK-N-BE(2)cell lines than in MYCN non-amplified CHLA-255 and SH-SY5Y cell lines(P＜0.001).Transient or stable knockdown of C12ORF66 resulted in significant slow down of proliferation of MYCN amplified NB cells(P＜0.001),the colony formation ability was significantly reduced(P＜0.001),and the proportion of Ki67 positive cells was significantly decreased(P＜0.05).Conclusions C12ORF66 was highly expressed in MYCN amplified clinical NB samples and cell lines which is believed to be correlated with poor prognosis of pediatric patients.C12ORF66 knockdown signifi-cantly inhibits cell viability of NB cells.

Objective To construct a curriculum system for higher vocational education in speech-language-hearing rehabilitation based on the World Health Organization rehabilitation competency framework(RCF),to align with international standards. Methods Based on RCF,curriculum theory and principles of vocational education psychology,a curriculum system and its content for higher vocational education in speech-language-hearing rehabilitation were developed.The curric-ulum content and core competencies were analyzed in detail across four levels:basic courses,specialized basic courses,specialized core courses and practical training courses. Results From the perspective of the seven competency domains of RCF,the theoretical and practical significance of con-structing a speech-language-hearing higher vocational education curriculum system based on RCF was systemati-cally elaborated.The study emphasized the importance of establishing competency-oriented higher vocational re-habilitation education for developing students'professional competence,adapting to job requirements,and pro-moting career development.A curriculum content system for speech-language-hearing rehabilitation higher voca-tional education based on RCF was systematically constructed,encompassing basic courses,professional cours-es,and practical training courses.The course names,main content and competency objectives at each level were analyzed in detail. Conclusion It is important to develop the course system of higher vocational education of speech-language-hearing reha-bilitation based on RCF.By comparing with international standards,the curriculum is optimized,focusing on im-proving students'vocational competence and promoting the international development.The curriculum system covers key areas such as core values,beliefs,practice and professionalism,integrates basic,core and practical training courses to achieve a competence-oriented curriculum system for higher vocational speech-language-hear-ing rehabilitation education.

Objective:To analyze the etiology of chronic pancreatitis(CP) and evaluate the impact of different intervention methods on the prognosis.Methods:This is a retrospective analysis conducted on clinical data of pediatric patients with CP admitted to Beijing Children's Hospital between January 2010 and December 2023,including etiology,clinical manifestations,imaging data and treatments.Follow-up assessments included height,weight,complications occurrence,and long-term nutritional status evaluated by using Z scores.Results:A total of 98 patients with CP were included in the study,containing 51 males and 47 females,with an age range of 1.95 to 15.96 years (median 8.49 years).The etiological contained the gene mutation (39.8%,39/98) (involving PRSS1, SPINK1, CFTR),the anatomical abnormality (26/98,26.5%),idiopathic pancreatitis (33.7%,33/98).Predominant clinical manifestations included abdominal pain (79/98,79.6%),nausea/vomit(48/98,49.0%),chest tightness/chest pain (10/98,10.2%),with malnutrition (44/98,44.9%) and the serum amylase increased in some patients.Imaging findings revealed heterogeneous pancreatic echoes,dilated pancreatic ducts and pancreatic stones via abdominal ultrasound,and a full or atrophic pancreas with irregular margins,tortuous or dilated pancreatic ducts through abdominal magnetic resonance imaging.Compared with CP caused by other reasons,hereditdry CP had a higher rate of pancreatic morphological changes(100.0% vs.88.1%, P<0.05).By March 2024,follow-up showed all 98 patients underwent initial medical treatment,followed by surgical intervention in 13 cases,endoscopic retrograde cholangiopancreatography intervention in 51 cases,and no surgical or endoscopic intervention in 34 cases.Six children developed diabetes,six had reduced fecal pancreatic elastase-1 but without fat diarrhea.Long-term follow-up indicated improved nutritional status among children who underwent endoscopic retrograde cholangiopancreatography intervention(Z score,-1.22 vs.0.74, P<0.001). Conclusion:Gene mutations and anatomical abnormalities is the main etiological factors in pediatric patients with CP.Early endoscopic intervention can significantly improve the long-term prognosis of the children.

Objective:Retrospective analysis of clinical data of 123 patients with atticotomy, exploring the clinical characteristics of patients undergoing atticotomy and the efficacy of hearing reconstruction methods. Methods:123 patients with atticotomy were divided into three groups according to the ossicular chain treatment method: preservation of the ossicular chain group（37 cases）, cartilage elevation of stapes group（49 cases）, and PORP group（37 cases）. The clinical characteristics of patients with atticotomy, preoperative and postoperative hearing levels of the three groups of patients, and postoperative complications were analyzed. Results:①89.43%（110/123） of patients who underwent atticotomy were pars flaccida cholesteatomas, while 10.57%（13/123） of patients were secondary cholesteatoma, adhesive otitis media, pars tensa cholesteatomas, congenital cholesteatoma, and external auditory canal cholesteatoma; ②The group with preserved ossicular chain had a shorter medical history compared to the other two groups, and the difference was statistically significant（P<0.001）. The group with preserved ossicular chain had smaller inter group ABG values and average ABG values at frequencies of 500 Hz, 1 000 Hz, 2 000 Hz and 4 000 Hz before surgery compared to the other two groups, and the difference was statistically significant（P<0.001）; The differences in ABG frequencies and average ABG between the three groups of patients before and after surgery were statistically significant（P<0.05）; Postoperative ABG: The group preserving the ossicular chain had a smaller difference compared to the other two groups, with a statistically significant difference（P<0.05）. There was no statistically significant difference between the cartilage plus high stapes group and the PORP group（P>0.05）; ③At 3 months post surgery, all patients achieved ear dryness. Two patients experienced delayed facial paralysis after conservative treatment, and all recovered. One patient had a slight decrease in bone conductivity due to the influence of grinding during hammer anvil fixation surgery, and one patient experienced a recurrence after 4 years due to residual surgery. 81 patients（65.85%） experienced non cartilage repair area invagination during postoperative follow-up, of which 5 patients（4.07%, 5/123） underwent a second surgery. Although the rest of the patients had local invagination, they could still self clean and did not form a cholesteatoma. The total recurrence rate was 4.88%（6/123）, with an average recurrence time of 4 years. Conclusion:Atticotomy surgery is most commonly used for pars flaccida cholesteatomas with limited scope. The incidence of postoperative retraction is high, and regular follow-up is necessary; When conditions permit during surgery, priority can be given to preserving the ossicular chain for better postoperative hearing. Both cartilage elevation of stapes and PORP implantation can effectively improve hearing, and there is no difference in postoperative hearing between the two methods. However, there is a risk of detachment and high cost after PORP surgery, and cartilage elevation of stapes is limited by insufficient height and stapes head erosion. Therefore, it is necessary to choose a comprehensive hearing reconstruction method based on the patient's condition.
Humans ; Retrospective Studies ; Female ; Male ; Adult ; Middle Aged ; Plastic Surgery Procedures/methods* ; Hearing ; Middle Ear Ventilation/methods* ; Treatment Outcome ; Adolescent ; Child ; Ossicular Replacement/methods* ; Ear Ossicles/surgery* ; Young Adult ; Tympanoplasty/methods*

ObjectiveTo investigate the effect of speech imagery therapy combined with traditional dysarthria training on dysarthria in children with cerebral palsy. MethodsFrom August to December, 2022, 21 children with cerebral palsy combined with dysarthria in Wuhu Fifth People's Hospital were randomly divided into three groups A, B and C. Group A was given traditional dysarthria training for 30 minutes everytime, group B was given implantable speech imagery combined with traditional dysarthria training for 40 minutes everytime, and group C was given additional speech imagery combined with traditional dysarthria training for 40 minutes everytime, five days a week, for three weeks. Articulation and Phonology Assessment Scale, Mouth Sensory-Motor Assessment Scale, and mandibular distance, tongue distance and vowel space area (VSA) were evaluated before and after treatment. ResultsThere was no significant difference in all the indexes among three groups before treatment (F < 1.247, P > 0.05). After treatment, the scores of phonological function and sensory-motor assessment scale increased (|t| > 2.575, P < 0.05), and the mandibular distance and VSA increased in groups A and B (|t| > 2.632, P < 0.05). The d-value of phonological function before and after treatment was more in groups B and C than in group A (P < 0.05), and no difference was found in the d-value of other indexes before and after treatment among three groups (P > 0.05). ConclusionBoth speech imagery therapies are effective in improving diction clarity, oral range of motion, and motion control ability in children with cerebral palsy, and are more effective in improving articulatory clarity than traditional speech-language training.

Objective:To assess the value of double-balloon enteroscopy(DBE)in the treatment of Peutz-Jeghers syndrome(PJS)polyp with intussusception in children.Methods:A total of 14 cases with PJS polyp with intussusception were collected in Gastroenterology Department of Beijing Children′s Hospital Affiliated to Capital Medical University from July 2019 to January 2023.The general information, clinical manifestations, history of surgeries, abdominal ultrasound, enteroscopy and postoperative outcomes were retrospectively analyzed.Results:Fourteen cases with intussusception of PJS(including nine boys and five girls) were enrolled, and the average age was(10.25±2.52)years.There were 21 small intestinal intussusceptions in 14 cases, including eight cases of single intussusception and six cases of multiple intussusceptions.All the patients underwent DBE examination and treatment.A total of 215 small intestinal polyps were removed, no direct complications such as bleeding or perforation were found during the operation.Twelve cases were confirmed intussusception relieved by DBE, and the average maximum diameter of polyps causing intussusception was(4.38±1.43)cm.In addition, DBE did not reach the site of intussusception polyp in one case, and another case developed intestinal obstruction after DBE operation, which were treated by surgery.Conclusion:DBE provides a relatively effective method for the treatment of PJS polyps with intussusception without complete ileus in children.

Objective    To explore the predictive value of a simple prediction model for patients with acute myocardial infarction. Methods    Clinical data of 280 patients with acute ST-segment elevation myocardial infarction (STEMI) in the Department of Emergence Medicine, West China Hospital of Sichuan University from January 2019 to January 2020 were retrospectively analyzed. The patients were divided into a death group (n=34) and a survival group (n=246). Results    Age, heart rate, body mass index (BMI), global registry of acute coronary events (GRACE), thrombolysis in myocardial infarction trial (TIMI) score, blood urea nitrogen, serum cystatin C and D-dimer in the survival group were less or lower than those in the death group (P<0.05). Left ventricle ejection fraction and the level of albumin, triglyceride, total cholesterol and low density lipoprotein cholesterol were higher and the incidence of Killip class≥Ⅲ was lower in the survival group compared to the death group (P<0.05). Multivariate logistic regression analysis showed that age, BMI, heart rate, diastolic blood pressure, and systolic blood pressure were independent risk factors for all-cause death in STEMI patients. Receiver operating characteristic (ROC) curve analysis showed that the area under the curve of simple prediction model for predicting death was 0.802, and similar to that of GRACE (0.816). The H-L test showed that the simple model had high accuracy in predicting death (χ2=3.77, P=0.877). Pearson correlation analysis showed that the simple prediction model was significantly correlated with the GRACE (r=0.651, P<0.001) and coronary artery stenosis score (r=0.210, P=0.001). Conclusion    The simple prediction model may be used to predict the hospitalization and long-term outcomes of STEMI patients, which is helpful to stratify high risk patients and to guide treatment.

Objective:To investigate the role of blood ammonia in the evaluation of the prognosis of septic patients in the emergency department and to compare its value with mortality in emergency department sepsis (MEDS) score.Methods:A retrospective clinical study was conducted to septic patients who were diagnosed in the Emergency Department of West China Hospital of Sichuan University from June 2017 to May 2018, and met the diagnostic criteria established by the diagnostic criteria of the American College of Chest Physicians/Society of Critical Care Medicine in 2001. The subjects who had other diseases that affected blood ammonia level and were lost to follow-up were excluded. MEDS scores were collected, and the survival status of patients was followed up by telephone. The independent samples t test was used to compare the differences between the two groups, receiver operating characteristic (ROC) curve was used to assess the accuracy of the prediction of sepsis mortality, and the logistic regression model was used to explore the value of the combined use of blood ammonia and MEDS score.Results:Eighty subjects were finally included in the study and divided into the 1-week survival group ( n=52), 1-week death group ( n=28); 4-week survival group ( n=37), 4-week death group ( n=43); 12-week survival group ( n=33), 12-week death group ( n=47); 1-year survival group ( n=32), and 1-year death group ( n=48). There was no statistical difference in the demographic characteristics of subjects between the groups. The average blood ammonia level of all the subjects who died was higher than that of the patients who survived in the same period [(116.57 ± 85.33) μmol/L vs (77.63 ± 35.82) μmol/L, (108.53 ± 73.00) μmol/L vs (71.19 ± 32.53) μmol/L, (106.74 ± 71.59) μmol/L vs (69.21 ± 28.84) μmol/L, (105.77 ± 71.14) μmol/L vs (69.50 ± 29.25) μmol/L, P<0.05]. Based on death after one week, four weeks, twelve weeks and one year, the area under ROC curve (AUC) of blood ammonia was 0.668 (95% CI: 0.542-0.793, P=0.014), 0.706 (95% CI: 0.593-0.819, P=0.002), 0.705 (95% CI: 0.592-0.818, P=0.002), and 0.697 (95% CI: 0.582-0.811, P=0.003), respectively. Compared with the use of blood ammonia, lactic acid or MEDS score alone, the combined use of blood ammonia and MEDS score increased the accuracy of prognosis evaluation in sepstic patients ( P<0.05). Conclusions:Blood ammonia has a high value in predicting the short-term and 1-year prognosis of septic patients in the emergency department. The combined use of blood ammonia and MEDS score can further improve its predictive value.

Objective:To investigate endoscopic and clinical characteristics of intestinal Behcet′s disease (BD) in children.Methods:General information, clinical manifestations, laboratory tests, imaging examinations and endoscopic characteristics of 14 children with intestinal BD treated in the Department of Gastroenterology, Beijing Children′s Hospital Affiliated to Capital Medical University from January 2016 to March 2020 were retrospectively analyzed.Results:Fourteen children with intestinal BD were recruited, involving 5 males and 9 females with the age of 1 month to 12 years and 11 months [(6.68±3.73) years old], and a median disease course of 6 months.All of them had gastrointestinal symptoms, including 11 cases with abdominal pain, 7 cases with diarrhea and 2 cases with vomiting.Complications of children with intestinal BD included gastrointestinal bleeding, intestinal perforation and stenosis.Extragastrointestinal symptoms included recurrent oral aphthosis in all the 14 cases, fever in 11 cases, skin lesions in 9 cases, vascular manifestations in 8 cases, positive pathergy test in 6 cases, joint manifestations in 5 cases, neurological manifestations in 1 case, and malnutrition in 6 cases.Observed by the endoscopy, lesions were mainly distributed in the distal ileum [61.5%(8/13 cases)]and ileocecal part[53.8%(7/13 cases)], with the main manifestation of ulcer.There were 3 cases with single ulcer and 10 cases with multiple ulcers, including 7 cases with deep and large ulcers.Pathological examinations of endoscopic lesions showed that the main features were mucosa chronic nonspecific inflammation, mucosa chronic active inflammation with ulcer and vasculitis.Conclusions:Clinical manifestations of intestinal BD vary a lot and are non-specific.Some children with intestinal BD may develop severe complications.Endoscopic lesions of intestinal BD have certain characteristics, which contribute to the diagnosis.Gastroenterologists need to be fully aware of intestinal BD.

Objective : To study the epidemiological characteristics of coronavirus disease 2019 （COVID-19） in Zhoushan, so as to provide reference for improving the prevention and control capability of COVID-19. Methods : All the confirmed cases of COVID-19 in Zhoushan, diagnosed according to China’s “COVID-19 diagnosis and treatment plan （fifth version） ” and reported from January 19 to February 17, 2020, were extracted from the infectious disease surveillance system. Data of general information, clinical characteristics, laboratory Results, transmission and detection routes were collected and analyzed. Results : By February 17, Ten confirmed cases of COVID-19 in Zhoushan had been reported, including 7 males and 3 females. They were all adults, with an average age of （50.90±15.00） years. Five cases were discharged. The incubation period ranged from 2 to 12 days, with a median of 5 days. The first symptoms were fever （8 cases）, cough （7 cases） and muscle pain （2 cases）. Chest computed tomographic （CT） scans showed ground glass opacities in the lungs of all the cases. Six cases had Wuhan related exposure. SARS-CoV-2 was tested positive in the sputum specimens or throat swabs of all the cases and the faeces of 4 cases. The last suspicious exposure of 5 cases occurred before, and that of another 5 cases occurred after the onset of clinical symptoms in the confirmed maternal cases. Three cases were found in active consultation after clinical symptoms, and another 7 cases were found in the monitoring of close contacts. Conclusions The 10 confirmed cases of COVID-19 reported in Zhoushan are all adults, and most have Wuhan related exposure. SARS-CoV-2 can be detected in the fecal samples, but the existence of fecal-oral transmission needs more research. SARS-CoV-2 has strong infectivity, and may also have infectivity before the onset of symptoms （at the end of incubation period）. Isolation and early detection of close contacts are conducive for early case-finding.