Dejerine-Sottas diseases (DSD)refers to a early onset severe demyelinating neuropathy,which is classified as CMT3 type,but the latest classification retains CMT3,and points out that the DSD is CMT1 disease with severe phenotype and slow nerve conduction velocities.DSD is a set of genetic heterogeneity peripheral neuropathy,genetic approach to autosomal dominant and autosomal recessive inheritance,When identified,the most frequent molecular genetic causes are monoallelic mutations in MPZ (myelin protein zero),PMP22 or EGR2 (early growth response 2).DSD is strictly defined as a severe demyelinating neuropathy,with early-onset,quick progress,severely slowed NCVs,and damaged sensorimotor functions.Is unsatisfatory,there is no clear effective treatment strategies.

Based oncompetence-basedphilosophy of education, core competences of Master of Nursing Specialist (MNS) postgraduates serve as a benchmark for the education quality. Furthermore, the evaluation of core competences is a key link. Our research mainly summarizes the evaluation methods of core competences of MNS at home and abroad, thus providing suggestions to the improvement of domestic core competences evaluation methods of MNS.

Assessment mode is a bottleneck in medical education reform nowadays.Although traditional assessment tools,such as written examination,are still widely used in medical education assessments,they have obvious limitations.With the enhancement of requirements in physicians' abilities,assessments on some basic abilities of physicians are still insufficient.The United States and Europe not only focus on the curriculum reform but also the development of appropriate assessment tools,therefore,some new assessment tools are invented.These assessment tools are applicable to the formative assessment and are student-centered,being able to promote the development of education and provide new options for medical education assessments.

Objective To observe the histological features of muscular layers in different parts of esophagus of patients with achalasia (AC) and to explore the distribution and function of eosinophils in esophageal muscular layer in patients with AC.Methods From June 2015 to February 2016,21 patients diagnosed with AC by endoscopy,barium meal and esophageal high resolution manometry,accepted peroral endoscopic myotomy (POEM) were enrolled.At the same period,nine patients with esophageal carcinoma who received esophagectomy were selected as controls.Muscular tissues of lower esophageal sphincter (LES),distal esophagus (5 cm above LES) and middle esophagus (10 cm above LES) of patients with AC and controls were taken for regular haematoxylin-eosin (H-E) staining to analyze degree of eosinophils infiltration.Nonparametric analysis and Chi-square analysis were used for statistical analysis.Spearman correlation analysis was used for analyzing correlations.Results The results of H-E staining indicated that different degree of eosinophil infiltration was found in 18(85.7％) patients with AC,and eosinophil counts in muscular layer were over 15 per high power field in five patients with AC (23.8％,5/21).However,no eosinophils infiltration was found in esophageal carcinoma patients.Median numbers of eosinophil in muscular layer of LES,distal esophagus and middle esophagus were all higher than those of esophageal carcinoma group (4.0,2.0 to 10.0 vs 1.0,0 to 1.5;4.0,1.0 to 17.0 vs 1.0,0.5 to 1.5；6.0,0.5 to 15.0 vs 0,0 to 1.0),and the differences were statistically significant (Z=2.997,2.476 and 2.504,all P＜0.05).The distribution of eosinophils in muscular layer of LES,distalesophagus and middle esophagus between the two groups were statistically significant (x2=2.710,2.543and 2.313,all P＜0.05).The differences in eosinophils distribution in muscular layer of LES,distal esophagus and middle esophagus in patients with AC were not ststistically significant (x2 =0.110,P＞0.05).Additionally,number of eosinophils in muscular layer of different parts of esophagus was not correlated with age and disease course (r=0.434 and 0.639；P =0.282 and 0.088).Conclusion The wide distribution of eosinophils in muscular layer of esophagus in patients with AC may involve in the genesis and development of AC.

Tyrosine kinase inhibitor(TKI), the first-line treatment for chronic myeloid leukemia(CML), can achieve long-term survival for CML patients.For TKI therapy in children with CML, the pediatricians should not only consider the same adverse reactions as adults, but also pay attention to its impact on children′s height and gonads.At present, multiple studies abroad have found that the use of imatinib can delay the growth and development of children with CML.However, the experience of dasatinib and nilotinib in children with CML is still lacking, and there are few relevant research reports, and their impact on the growth and development of children is still unclear.This article reviews the research progress on the mechanism, clinical research data, and treatment of growth and development disturbances of children with CML treated with TKIs.

Objective:To explore the predictive effect of European treatment and outcome study long term survival (ELTS) score on survival outcomes in chronic myeloid leukemia of chronic phase (CML-CP) children.Methods:A single-center retrospective cohort study was conducted. Clinical data of 216 children with CML-CP in Peking University People′s Hospital from January 2010 to December 2023 were analyzed. Children were divided into low, intermediate and high-risk groups according to ELTS score. The survival outcomes and prognostic factors were analyzed. Kaplan-Meier method and Log-Rank test were used for survival analysis.Cox regression model was applied for analysis of prognostic factors.Results:Among the 216 children with CML-CP, there were 122 males and 94 females, with the diagnosis age of 11.0 (8.0, 14.7) years. The follow-up time was 77 (57, 99) months. According to ELTS score, 145, 52, and 19 children were classified as low, intermediate and high-risk group. For the low-risk and intermediate/high-risk groups, the 6-year failure-free survival (FFS) rates were (83.0±3.1)% and (64.6±5.7)%, the 6-year progression-free survival (PFS) rates were (91.4±2.3)% and (78.7±4.8)%, and the 6-year event-free survival (EFS) rates were (80.8±3.3)% and (64.2±5.7)%, with statistically significant difference ( χ2=9.45, 7.16, 7.40, P=0.002, 0.007, 0.007), respectively.The 6-year overall survival (OS) rates were (98.5±1.0)% and (95.6±2.4)%, without statistically significant difference ( χ2=0.35, P=0.550). Multivariate analysis showed that ELTS score was an independent prognostic factor or tendency for FFS ( HR=1.97, 95% CI 1.11-3.49), PFS ( HR=2.95, 95% CI 1.18-7.39), and no independent prognostic factor for EFS and OS were found. Conclusions:ELTS score at diagnosis can help stratify the risk of children with CML-CP. The children in intermediate/high-risk group are more likely to have treatment failure, disease progression than those in low-risk group, but the predictive ability of ELTS score for OS is limited.

Objective:To explore the clinical characteristics and prognosis of children with chronic myeloid leukemia in the blast phase (CML-BP) .Methods:The clinical characteristics, treatment measures, and survival outcomes of 28 children with CML-BP were analyzed in our hospital from January 2008 to November 2022.Results:The male to female ratio of the 28 children with CML-BP was 1.15∶1. The median age of diagnosis of CML-BP was 10 years, and the median follow-up time was 79 months. During the diagnosis of CML, four children were in the BP, one was in the accelerated phase (AP) and 23 children were in the chronic phase (CP). Among the 23 children with CML-CP, 75% had progressed directly from CP to BP without experiencing the AP. Among the children diagnosed with CML-BP, 71.4% were classified as chronic myeloid leukemia lymphoid blast phase (CML-LBP), 25.0% belonged to the chronic myeloid leukemia myeloid blast phase (CML-MBP), and 3.6% belonged to the chronic myeloid leukemia mixed phenotype acute leukemia (CML-MPAL). Treatment with hemaopoietic stem cell transplantation (HSCT) after tyosine kinase inhibitor (TKI) combined with chemotherapy was administered to 19 children, two children received HSCT after TKI alone, and seven children received TKI combined with chemotherapy but without HSCT. The 5-year overall survival of the 28 children with CML-BP was 59.3%.Conclusion:The direct progression of BP from CP is greater in children with CML-BP compared with adults, and the overall prognosis of children with CML-BP is poor.

Objective To examine the compliance of and factors affecting target attainment of serum trough concentration of norvancomycin in ICU patients,and the effects of different trough concentrations on clinical efficacy and renal impairment.Methods Adult patients admitted to the Department of Critical Care Medicine of Huangshan People's Hospital and receiving intravenous infusion of norvancomycin from January 2020 to December 2022 were included.The dosing regimens and steady-state trough concentrations of norvancomycin were analyzed.The clinical efficacy and renal impairment were compared between different trough concentration levels.The compliance of trough concentration in critically ill patients with different renal functions was examined.Logistic regression analysis was performed to profile the factors possibly affecting the trough concentration of norvancomycin.Results A total of 97 patients were included.The target serum trough concentration(10-20 mg/L)was reached in only 33.0％(32/97)of the critically ill patients.The serum trough concentration was below the target in 51.5％(50/97)of the patients,above the target in 15.5％of the patients.The clinical cure rate and incidence of renal impairment were significantly different among the three groups of patients with different trough concentrations(P＜0.05).The compliance with target serum trough concentration varied with different renal function tests(P＜0.05).Augmented renal clearance and normal renal function were associated with trough concentrations lower than the target.As renal dysfunction got worse,serum trough concentration was more probably higher than the target(P＜0.05).Univariate analysis showed that daily dose,age,gender,height,weight,body mass index(BMI),APACHE Ⅱ score,sequential organ failure assessment(SOFA)score,blood creatinine,urea nitrogen,procalcitonin,concomitant septic shock,and use of norepinephrine were significantly correlated with trough concentrations of norvancomycin(P＜0.05).Multivariate logistic regression analysis indicated that age,SOFA score,blood urea nitrogen,gender,and norepinephrine use were independent factors affecting the serum trough concentration of norvancomycin(P＜0.05).Conclusions The serum trough concentration of norvancomycin varied with renal function states in ICU patients.It is difficult to achieve the steady-state target trough concentration(10-20 mg/L).The clinical cure rate is lower when the trough concentration is lower than the target.As the trough concentration increases,the incidence of renal impairment increases.Age,SOFA score,urea nitrogen,gender,and norepinephrine use are independent factors affecting the serum trough concentrations of norvancomycin.

Objective:To study the relationship and the role of leptin in children with biliary atresia and hepatic fibrosis to provide a treatment basis for these patients.Methods:The clinical data of children with biliary atresia or congenital biliary dilatation (CBD) who underwent surgical treatment at the Department of General Surgery of Tianjin Children's Hospital from August 2019 to August 2021 were retrospectively analyzed. Of 31 children included in this study, there were 14 males and 17 females, with age of 60 (30, 63) d. Children with biliary atresia served as the study group ( n=26) and children with CBD served as the control group ( n=5). Leptin protein, α-smooth muscleactin (α-SMA) and phosphorylation of extracellular-regulated protein kinase 1/2 (p-ERK1/2) in liver tissues were detectd by immunohistochemistry (IHC). The expression level of leptin mRNA in liver tissues were detected by quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR). Results:The average optical density values of leptin protein, α-SMA protein and p-ERK1/2 protein in the liver tissues of children in the study group were significantly higher than the control group ( P<0.05). The expression levels of leptin, α-SMA and p-ERK1/2 in liver tissues of children with biliary atresia significantly increased with increase in fibrosis degree ( P<0.05). The expression level of leptin in liver tissues of children with biliary atresia was positively correlated with the liver fibrosis grade ( rs=0.876), α-SMA ( r=0.723) and p-ERK1/2 ( r=0.725) ( P<0.01). The results of qRT-PCR showed that the content of leptin mRNA in liver tissues of children with biliary atresia was significantly higher than that of children with CBD ( P<0.05). Conclusion:Expressions of leptin increased with aggravation of degrees of hepatic fibrosis in biliary atresia. Leptin may be involved in activation of HSCs through the ERK1/2 signaling pathway in the process of hepatic fibrosis due to biliary atresia.

Objective This study aims to systematically evaluate the experiences of patients with hematologic neoplasm undergoing chimeric antigen receptor T-cell(CAR-T)therapy and nursing care,and to provide a reference basis for healthcare providers to develop personalized intervention strategies.Methods PubMed,Web of Science,Embase,CINAHL,Cochrane Library,PsycINFO,Scopus,Australia Joanna Briggs Institute(JBI)EBP Database,China National Knowledge Infrastructure(CNKI),Wanfang Data,VIP Database,and China Biology Medicine(CBM)Database were systematically searched for qualitative studies on the experiences of patients with hematologic neoplasm undergoing CAR-T therapy and nursing care.The search period extended up to September 2023.The quality of the literature was reviewed according to the JBI Qualitative Assessment and Review Instrument,and a pooled analysis was applied to integrate the results.Results A total of 15 studies were included,generating 76 findings,which were then organized into 8 categories,resulting in 3 integrated findings.(1)Patients experienced conflicting emotions,with expectations often at odds with reality,leading to emotional fluctuations:expectations about treatment were entangled with concerns about risks;emotions fluctuated with expectations and actual experiences.(2)Patients experienced physical and social functional impairments,but as the disease eased,normal functioning recovered:rapid decline and improvement in physical functions;loss and recovery of social functions.(3)Patients desired access to professional guidance and psychosocial support.Conclusion Patients undergoing CAR-T therapy often contend with emotional conflicts.Changes in physical and social functions after the completion of treatment result in needs for seeking comprehensive medical and nursing support.It is recommended that healthcare providers conduct dynamic assessments and interventions regarding patients'emotional states before treatment,focus on early identification and management of adverse reactions after treatment,and offer continuous nursing services after discharge to enhance patients'confidence in participating in CAR-T therapy and improve their overall quality of life.