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 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 To discuss the accuracy of three-dimensional (3D) sonography in diagnosing arcuate uterus and septate uterus and propose a quantitative indicator in distinguishing arcuate uterus and septate uterus.Methods Ninety-six patients with suspected congenital uterine malformation underwent 3D sonography to assess uterine anomalies at Obstetrics and Gynecology Hospital of Fudan University from August 2011 to March 2013.Uterine coronal section was reconstructed and measured in onmi view imaging mode of 3D sonography.Then qualitative diagnosis and categorization was done.The results were compared with diagnosis of hysteroscopy,hysteroscopy combined with laparoscope to determine the sensitivity,specificity,positive predictive values,negative predictive values and total accuracy of 3D sonography in diagnosing arcuate uterus,partial and complete septate uterus respectively.The variable was created in coronal section of uterus constructed through 3D imaging mode to differentiate arcuate uterus from septate uterus.Results There were 33 cases (34.4％,33/96) of arcuate uterus,54 cases (56.2％,54/96) of partial septate uterus and 9 cases (9.4％,9/96) of complete uterus in 96 cases diagnosed by 3D sonography.The accuracy of 3D sonography in diagnosing arcuate uterus and septate uterus was 86.5％.We concluded that 3D sonography had 100％ sensitivity,82.9％ specificity,60.6％ positive predictive value and 100％negative predictive value in the diagnosis of arcuate uterus.The sensitivity of 3D sonography for diagnosis of partial septate uterus was 80.6％,the specificity was 100％,the positive predictive value was 100％,and the negative predictive value was 69.1％.The sensitivity,specificity,positive and negative predictive values of 3D sonography for detecting complete septate uterus were all 100％.The ratio of depth of uterine internal indentation and depth from uterine fundus to the top of intemal indentation was more than 50％ for septate uterus,while less than 50％ for most of the arcuate uterus.Conclusions The diagnostic efficiency of 3D sonography in specific uterine malformation is different.The new quantitative indicator maybe helpful in improving the accuracy of 3D sonography in diagnosing arcuate uterus and septate uterus.

Algae are a large group of photosynthetic organisms responsible for approximately half of the earth's total photosynthesis. In addition to their fundamental ecological roles as oxygen producers and as the food base for almost all aquatic life, algae are also a rich source of bioactive natural products, including several clinical drugs. Cytochrome P450 enzymes (P450s) are a superfamily of biocatalysts that are extensively involved in natural product biosynthesis by mediating various types of reactions. In the post-genome era, a growing number of P450 genes have been discovered from algae, indicating their important roles in algal life-cycle. However, the functional studies of algal P450s remain limited. Benefitting from the recent technical advances in algae cultivation and genetic manipulation, the researches on P450s in algal natural product biosynthesis have been approaching to a new stage. Moreover, some photoautotrophic algae have been developed into "photo-bioreactors" for heterologous P450s to produce high-value added pharmaceuticals and chemicals in a carbon-neutral or carbon-negative manner. Here, we comprehensively review these advances of P450 studies in algae from 2000 to 2021.

Objective: To analyze the clinical characteristics of hand, foot and mouth disease (HFMD) caused by coxsackievirus A6 (CV-A6) in different age groups. Methods: From January 2015 to December 2017, throat swabs were collected from children with or suspected of having HFMD then quantitative real-time PCR was performed to detect enterovirus nucleic acid. HFMD cases caused by CV-A6 were divided into different groups according to age for comparison. Results: In total, there were 467 cases of HFMD caused by CV-A6 with the age ranging from 3 months to 16 years. There were 273 cases in the infants and young children group (< 3 years old), 131 cases in the pre-school group (3-6 years old), and 63 cases in the school-age group (> 6 years old). The peak incidence was found between May and November.Fever was the common symptom, and the rate of fever in infant group was the highest (220/273, 80.5%); The proportion of cases with leucocyte elevation in the infant group was the highest (127/273, 46.5%) than that in the school-age group (17/63, 27.0%) with a statistical significance. The skin erythra of the HFMD caused by CV-A6 were diverse in forms. Over two forms of skin erythra accounted for 53.9% (257/476) of all cases, and the cases in the infant group showing more forms of skin erythra (163/273, 59.7%). The oral herpes were mainly distributed in the upper palate and pharyngeal isthmus, but the school age group had the least number of distribution sites (0.89±0.86). The cases in the infant group showed higher incidence of skin rash at the elbow joint (109/273, 39.9%), knee (88/273, 32.6%), thigh (112/273, 41%), buttock (122/273, 44.7%) than the other two groups, However, the school age group showed lower incidence of skin rash in the lower leg (0/63, 0%) and thigh (6/63, 9.5%) than the other two groups. The differences between groups were statistically significant. All cases were cured clinically, no severe cases occurred. Among the 288 cases followed up for 6 months, 33 (33/288, 11.5%) suffered from nail exfoliation. Conclusions Different age groups of HFMD caused by CV-A6 had different clinical manifestations. In the infant group, more cases had fever and the erythra were more diverse in forms and wider in distribution. In addition, the increased leukocytes in routine blood test was also more common in the infant group.

ObjectiveTo observe the lower limb muscle activation strategy of healthy middle-aged and old women during stair ascent and descent with surface electromyography. MethodsFrom August, 2021 to February, 2022, 20 healthy middle-aged and old women were measured the surface electromyography root mean square (RMS) and integrated electromyography (iEMG) of bilateral vastus lateral, rectus femoris, vastus medialis, biceps femoris and semitendinosus during stair ascent and descent, and co-contraction ratio was calculated. ResultsDuring stair ascent, the RMS of bilateral vastus lateral, rectus femoris and vastus medialis was higher at starting stage than at following stage (|t| > 6.650, P < 0.001), while the RMS of biceps femoris and semitendinosus was lower (t > 3.559, P < 0.01); and the co-contraction ratio of hamstrings/quadriceps was lower at starting stage than at following stage (t > 8.185, P < 0.001). During stair descent, the RMS of bilateral vastus lateral, vastus medialis, biceps femoris and semitendinosus was higher at following stage than at starting stage (t > 2.345, P < 0.05), as well as the co-contraction ratio of hamstrings/quadriceps (t > 2.405, P < 0.05). ConclusionThe activities of the muscles around the knees are almost symmetrical during stair ascent and descent for healthy middle-aged and old women. The activation and co-contraction ratio of quadriceps and hamstring are various at starting/following stages.