Objective To analyze the molecular cytogenetic abnormalities and pathogenesis of pediatric Burkitt lymphoma (BL) by array comparative genomic hybridization (aCGH).Methods First,immunophenotype,molecular genetics and EB virus (EBV) infection status were detected using immunohistochemistry and fluorescence in situ hybridization in 21 pediatric BL patients.Second,in addition to detecting genome-wide genetic gain/deletion status,aCGH results with EBV infection status were also correlated.Results aCGH results showed genetic alterations in 19 cases (90.5 ％).Generally,frequency of chromosomal gain was higher than chromosomal deletion.The regions of frequently-occurring small DNA genomic fragment gains (≥40 ％ cases) were 3q21.1,5p13.2,19q13.32,12q23.1,14q32.33,6q27,20p13 and 20p11.21.Large DNA fragment gains and deletions could be detected in 42.9 ％ (9/21) cases in the 14q24.2 and 14q32.33 regions.There was no significant difference in genetic alterations between EBV (+) and EBV (-) BL cases (P≥0.05).Conclusion aCGH results show that BL cases have complex genetic alterations,which have no significant difference between EBV(+) and EBV(-) cases.Most BL cases show large DNA segment deletion or acquisition of 14q,indicating that 14q gene alteration plays an important role in the pathogenesis of BL.

As the urgent need of both clinic and research,the identification of hypertonia subtypes is becoming more and more important. Hypertonia assessment tool is a standardized discriminative measure with good reliability and validity. Hypertonia assessment tool can identify paediatric hypertonia subtypes. For its easily learning,it can be easily generalized in clinician.

Objective To construct a competency model of the pediatric nurse in the hospital. Methods The data was collected by a cross-sectional survey through exploratory factor analysis for revealing the internal structure of the competency model. Results The competency model includes 12 dimensions and 45 feature indexes, which are personal characteristics, service characteristic, motivational orientation, risk management, concern and love, innovation ability, professional ethics, professionalism, coping capacity, communication and coordination, social learning, problem solving skill. Conclusions Construction of the competency model has a theoretical foundation in the selection,training and performance measurement of the pediatric nurse.

Objective:To investigate the expressions of leptin receptor (OBR) and phosphorylated protein kinase B (p-AKT) in patients with diffuse large B-cell lymphoma (DLBCL) and its significance.Methods:Immunohistochemistry was applied to detect the expressions of OBR and p-AKT in tissues from 90 patients with DLBCL and 20 patients with reactive lymphoid hyperplasia (RLH) between 2010 and 2015 in Shandong Provincial Hospital Affiliated to Shandong First Medical University. Cell proliferation assay was used to detect the effect of leptin on the proliferation of SUDHL4 and SUDHL5 in DLBCL cell lines, and the expression of p-AKT in SUDHL4 and SUDHL5 after the cultured leptin was detected by using Western blot.Results:The high expression rate of OBR and p-AKT of DLBCL was 47.7% (43/90) and 27.7% (25/90), respectively, and low expression was found in 20 cases of RLH. There were statistically differences in the expressions of OBR and p-AKT in DLBCL and RLH ( P < 0.01, P = 0.027). The expressions of OBR and p-AKT were not correlated with age, gender, extranodal infiltrations, clinical staging, lactic dehydrogenase (LDH) level, B-symptom and international prognostic index (IPI) score (all P > 0.05). The expression of OBR was positively related with that of p-AKT in DLBCL patients ( r = 0.532, P < 0.05). Leptin could increase the proliferation of SUDHL4 and SUDHL5 cells and promote the expression of p-AKT. Conclusion:Leptin and OBR can promote the proliferation of DLBCL cells and may be involved in the occurrence and development of DLBCL by activating PI3K-AKT pathway.

Objective:To investigate the clinical characteristics, skeletal muscle pathologies and gene variations of chronic progressive external ophthalmoplegia (CPEO).Methods:Sixteen patients with conformed CPEO, admitted to our hospital from January 1997 to December 2021, were chosen. Their clinical data such as onset age and course of diseases and muscle pathological examination results were collected and their gene variation characteristics were analyzed.Results:The initial symptom in all 16 patients was ptosis of varying degrees; 15 patients were with eye movement disorder, 6 with diplopia, 4 with proximal limb weakness, and 3 with dysphagia and dysarthria. Among the 16 patients, electromyography showed myogenic damage in 7 patients, myogenic combined with neurogenic damage in 1 patient, neurogenic damage in 1 patient, and normal in 7 patients. Skeletal muscle biopsies indicated that 14 patients were with ragged red fibers (RRF), 11 patients had cytochrome C oxidase (COX)-negative muscle fibers, 3 patients had a small amount of degenerated and necrotic myofibers with mononuclear phagocytic infiltration. Immunohistochemical staining indicated infiltration of CD8 and CD68 positive lymphocytes. Ten patients accepted genetic test, indicating 6 patients with single large fragment deletion of mitochondrial DNA (mtDNA), 1 patient with mtDNA point mutation, 1 patient with nucleosomal DNA (nDNA) point mutation, and 2 patients without pathogenicity variation clearly associated with clinical phenotype. Electron microscopy in 5 patients showed that abnormal mitochondrial aggregation was noted in 4 patients under the sarcolemma and among the myofibrils.Conclusion:In addition to ptosis and eye movement disorders, a small number of patients with CPEO may be accompanied by dysphagia and limb weakness; and single large fragment deletion of mtDNA is the main mutation form of CPEO.

Objective:To investigate the clinical characteristics, skeletal muscle pathologies and gene variations of chronic progressive external ophthalmoplegia (CPEO).Methods:Sixteen patients with conformed CPEO, admitted to our hospital from January 1997 to December 2021, were chosen. Their clinical data such as onset age and course of diseases and muscle pathological examination results were collected and their gene variation characteristics were analyzed.Results:The initial symptom in all 16 patients was ptosis of varying degrees; 15 patients were with eye movement disorder, 6 with diplopia, 4 with proximal limb weakness, and 3 with dysphagia and dysarthria. Among the 16 patients, electromyography showed myogenic damage in 7 patients, myogenic combined with neurogenic damage in 1 patient, neurogenic damage in 1 patient, and normal in 7 patients. Skeletal muscle biopsies indicated that 14 patients were with ragged red fibers (RRF), 11 patients had cytochrome C oxidase (COX)-negative muscle fibers, 3 patients had a small amount of degenerated and necrotic myofibers with mononuclear phagocytic infiltration. Immunohistochemical staining indicated infiltration of CD8 and CD68 positive lymphocytes. Ten patients accepted genetic test, indicating 6 patients with single large fragment deletion of mitochondrial DNA (mtDNA), 1 patient with mtDNA point mutation, 1 patient with nucleosomal DNA (nDNA) point mutation, and 2 patients without pathogenicity variation clearly associated with clinical phenotype. Electron microscopy in 5 patients showed that abnormal mitochondrial aggregation was noted in 4 patients under the sarcolemma and among the myofibrils.Conclusion:In addition to ptosis and eye movement disorders, a small number of patients with CPEO may be accompanied by dysphagia and limb weakness; and single large fragment deletion of mtDNA is the main mutation form of CPEO.

Objective:To study the clinical, imaging and pathological features of duodenal gangliocytic paraganglioma (DGP).Methods:The clinical, imaging and pathological data of patients with DGP treated at the Shandong Provincial Hospital Affiliated to Shandong First Medical University from January 2012 to October 2021 were retrospectively analyzed.Results:Of 8 patients with DGP, there were 7 males and 1 female, with a median age of 52 years (range 37 to 57 years). Five patients were asymptomatic and they were diagnosed on physical examination followed by investigations. Three patients presented with black stools. CT examination showed localized nodular thickening of the duodenum, with enhanced scanning showing obvious progressive contrast enhancement. Endoscopic ultrasonography showed a hypoechoic submucosal lesion in duodenal wall. Histologically, the neoplasm composed of three different cell types which included Schwann cells, epithelioid cells, and ganglioid cells. The Schwann cells expressed NF, NSE and S-100 proteins; the epithelioid cells expressed CK, NSE, Syn and CgA proteins; while the ganglioid cells expressed NSE, Syn, CgA and NF proteins. Endoscopic submucosal dissection was performed in 2 patients and surgical resection was performed in 6 patients.Conclusion:DGP is a rare benign neurogenic tumor which is most commonly found in the duodenum. It has a good prognosis. Imaging and endoscopic examinations demonstrated a submucosal mass. The main treatment are endoscopic resection and local surgical resection.

Developmental coordination disorder (DCD) is a childhood-onset condition that primarily affects physical co-ordination.In China, DCD is not well recognized and is under-treated.Knowledge of the evaluation and intervention of DCD among physiotherapists (PT) is limited.In 2020, the Academy of Pediatric Physical Therapy of the American Physical Therapy Association published the Physical Therapy Management of Children with Developmental Coordination Disorder: An Evidence-Based Clinical Practice Guideline.From the perspective of PT, this review aims to make a comprehensive interpretation of the recommendations in the guideline regarding the physical examination and evaluation, physiotherapy planning and implementation, and family education of children at risk or diagnosed with DCD.This article aims to make DCD get more attention from domestic PT through the interpretation of the latest guidelines, and strengthen the knowledge of physiotherapy assessment and management in children with DCD to guide the clinical practice.

Objective:To evaluate the value of next generation sequencing (NGS) in the genetic testing of Lynch syndrome.Methods:Immunohistochemical method was used to detect the expressions of DNA mismatch repair (MMR) proteins, including MutL homolog 1 (MLH1), PMS1 homolog 2 (PMS2), MutS homolog 2 (MSH2) and MutS homolog 6 (MSH6) in colorectal cancer, gastric cancer and endometrial cancer tissues collected from Shandong Provincial Hospital between 2016 and 2018. The genomic DNA of 45 patients who were suspected with Lynch syndrome was extracted from non-cancerous tissue paraffin samples, which were postoperatively confirmed by microscope. The mutations of 12 genes including MLH1 and MSH2 were detected using NGS. The germline mutant sites and significance were analyzed by bioinformatics technology and further confirmed by using Sanger sequencing.Results:The immunohistochemical results showed that the 45 cases of suspected Lynch syndrome included 22 cases of MLH1 and PMS2 deficient expression, 16 cases of MLH2 and MSH6 deficient expression, and 7 cases of MMR proteins normal expression. The NGS result showed that 28 cases of adjacent sample from colon cancer patients included 4 cases of MLH1 pathogenic mutation, 1 case of suspected MLH1 mutation, 2 cases of MLH2 pathogenic mutation, 2 cases of suspected MLH2 mutation. No MMR gene mutation was found in adjacent samples of 6 cases of rectal cancer, 6 cases of gastric cancer and 7 cases of colorectal cancer with MMR normal expression. One case of MLH1 or MHL2 pathogenic mutation and one case of MLH1 suspected mutation was detected in adjacent samples of 5 cases of endometrial cancer. Moreover, NGS also detected many other genes mutations and unreported gene mutation sites. Pathogenic and suspected MLH1 and MSH2 mutations were verified by Sanger sequencing.Conclusions:High-throughput NGS is a quick, accurate and reliable technique to identify gene variants in suspected Lynch syndrome patients. It has a wide application prospect for gene testing of tumors associated with Lynch syndrome.

Objective:To evaluate the value of next generation sequencing (NGS) in the genetic testing of Lynch syndrome.Methods:Immunohistochemical method was used to detect the expressions of DNA mismatch repair (MMR) proteins, including MutL homolog 1 (MLH1), PMS1 homolog 2 (PMS2), MutS homolog 2 (MSH2) and MutS homolog 6 (MSH6) in colorectal cancer, gastric cancer and endometrial cancer tissues collected from Shandong Provincial Hospital between 2016 and 2018. The genomic DNA of 45 patients who were suspected with Lynch syndrome was extracted from non-cancerous tissue paraffin samples, which were postoperatively confirmed by microscope. The mutations of 12 genes including MLH1 and MSH2 were detected using NGS. The germline mutant sites and significance were analyzed by bioinformatics technology and further confirmed by using Sanger sequencing.Results:The immunohistochemical results showed that the 45 cases of suspected Lynch syndrome included 22 cases of MLH1 and PMS2 deficient expression, 16 cases of MLH2 and MSH6 deficient expression, and 7 cases of MMR proteins normal expression. The NGS result showed that 28 cases of adjacent sample from colon cancer patients included 4 cases of MLH1 pathogenic mutation, 1 case of suspected MLH1 mutation, 2 cases of MLH2 pathogenic mutation, 2 cases of suspected MLH2 mutation. No MMR gene mutation was found in adjacent samples of 6 cases of rectal cancer, 6 cases of gastric cancer and 7 cases of colorectal cancer with MMR normal expression. One case of MLH1 or MHL2 pathogenic mutation and one case of MLH1 suspected mutation was detected in adjacent samples of 5 cases of endometrial cancer. Moreover, NGS also detected many other genes mutations and unreported gene mutation sites. Pathogenic and suspected MLH1 and MSH2 mutations were verified by Sanger sequencing.Conclusions:High-throughput NGS is a quick, accurate and reliable technique to identify gene variants in suspected Lynch syndrome patients. It has a wide application prospect for gene testing of tumors associated with Lynch syndrome.