Objective To detect expression of TEL-AML1 fusion genes in pediatric cases with acute lymphoblastic leukemia(ALL) and discuss the role of reverse transcriptase polymerase chain reaction(RT-PCR)and fluorescence in situ hybridization(FISH) in detection of t(12 ;21) and the clinical significance. Methods TEL-AML1 fusion gene was identified in bone marrow munonuclear cells from 31 newly diagnosed childhood ALL patients by NRT-PCR, FISH and conventional cytogenetic analysis (CCA). Results TEL-AML1 fusion gene was found in 7 out of 31 cases, accounting for 22.6 % in pediatric ALL, and 7 out of 31 cases accounting for 25.9 % in B-ALL Seven cases were found with t (12;21) by FISH and NRT-PCR. The incidence of the t(12;21) was 22.6 % in newly diagnosed pediatric ALLs. Conclusion It is concluded that TEL-AML1 rearrangement is a frequent molecular abnormality in childhood ALL. t(12;21) is the most common cytogenetic translocations in Chinese pediatric ALLs, but it is always difficult to identify by routine CCA.Other molecular methods, e.g. NRT-PCR and FISH are powerful in detecting such a critical genetic translocation.

Objective To analyse the fusion genes derived from chromosome structural aberrations in acute myeloid leukemia(AML) and the relationship between fusion genes and the MICM classification, clinical diagnosis, chemotherapy and prognosis. Methods The expression of fusion gene in bone marrow samples was detected with multiplex RT-PCR technique and chromosome karyotypes, immunological phenotypes and clinical data were analyzed in 60 acute myeloid leukemia newly diagnosed. Results 37 cases(61.67 %) of 60 patients carried 5 kinds of fusion genes consisting of MLL-AF9, TLS-ERG, CBFβ-MYH1, AML1-ETO and PML-RARα. The activation of oncogene HOX11 was detected in 13 AML cases, three of them with other chromosome aberration simultaneously.23 cases of 31 patients carrying AML1-ETO or PML-RARα, reached complete remission(CR) after chemotherapy and without relapse. Conclusion Gene typing is the most precise classification method that can direct clinical treatment and evaluate prognosis. Multiplex RT-PCR technique, which can quickly screen 29 kinds of fusion gene derived from chromosome structural aberrations at one time, maybe helpful to improve M1CM classification and guide the choice of treatment.

OBJECTIVE: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. METHODS: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. RESULTS: WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). CONCLUSION The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.
Abnormalities, Multiple/genetics* ; Child ; Histone-Lysine N-Methyltransferase/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Syndrome

Objective:To construct a multi-label learning MRI model for assisting diagnosis of sports injury in knee.Methods:A total of 1 391 knee MRI cases from 1 343 young adults with sports injury in Affiliated Jinling Hospital Nanjing University School of Medicine were retrospectively enrolled. The image cases were randomly divided into training set ( n=973), validation set ( n=139) and test set ( n=279) with ratio of 7∶1∶2. The knee injuries were divided into six categories: meniscus injury, tendon injury, ligament injury, osteochondral injury, synovial bursa disorder and soft tissue injury. Using PyTorch V1.1.0 algorithm package, the Yolo model of deep learning was used to construct the MRI knee joint sports injury detection model. The model was validated on the test set, and the sensitivity, specificity and mean average precision of lesion detection were evaluated. Results:Among the 279 patients in test set, the mean average precision of meniscus injury, tendon injury, ligament injury, osteochondral injury, synovial bursa disorder and soft tissue injury were 83.1%, 89.0%, 88.0%, 85.8%, 85.5% and 83.2%, respectively, and the overall mean average precision was 85.8%. The model was most effective in detecting tendon injury. The sensitivity and specificity of the model for tendon injury were 91.2% and 87.1% respectively.Conclusions:The multi-label MRI knee joint exercise-related injury detection model based on deep learning can effectively assist in detecting the exercise-related injury of knee joint in each tissue structure, and is expected to improve the efficiency of diagnosis and treatment in orthopedics.

Objective To examine the influence of hormonal fluctuations on the perioperative outcomes of patients undergoing congenital heart surgery. Methods We conducted a retrospective analysis of clinical data from fertile women diagnosed with congenital heart disease at the Guangdong Provincial People's Hospital, between January 1, 2015, and July 30, 2019. Initially, patients were categorized into groups based on serum progesterone levels: a low progesterone group (n=31) and a high progesterone group (n=153). Furthermore, based on serum estrogen levels, they were divided into a low estrogen group (n=10), a medium estrogen group (n=32), and a high estrogen group (n=118) for comparative analysis. A control group (n=24) consisted of patients who received progesterone injections before their menstrual period. Results We finally included 184 patients. The patients’ average age was 27.6±5.7 years, with 142 (77.17%) presenting with complex congenital heart conditions. There were statistically significant differences in total postoperative standard thoracic drainage volume and postoperative albumin level between the high and low progesterone groups (P<0.05), while other perioperative outcome indicators showed no statistical differences (P>0.05). Among the different serum estrogen level groups, there were statistically significant differences in postoperative blood urea nitrogen levels, total postoperative standard thoracic drainage volume, and hospital stay (P<0.05), while other perioperative outcome indicators showed no statistical differences (P>0.05). Conclusion Considering the overall clinical significance, the physiological changes in sex hormone levels appear to have a negligible effect on the perioperative outcomes of fertile women with congenital heart disease.

Objective To comprehensively analyze the clinical outcomes of total cavopulmonary connection (TCPC) in the treatment of functional single ventricle combined with heterotaxy syndrome (HS). Methods A retrospective analysis was conducted on the patients with functional single ventricle and HS who underwent TCPC (a HS group) in Guangdong Provincial People's Hospital between 2004 and 2021. The analysis focused on postoperative complications, long-term survival rates, and identifying factors associated with patient survival. Early and late postoperative outcomes were compared with matched non-HS patients (a non-HS group). Results Before propensity score matching, 55 patients were collected in the HS group, including 42 males and 13 females, with a median age of 6.0 (4.2, 11.8) years and a median weight of 17.0 (14.2, 28.8) kg. Among the patients, there were 53 patients of right atrial isomerism and 2 patients of left atrial isomerism. Eight patients underwent TCPC in one stage. TCPC procedures included extracardiac conduit (n=39), intracardiac-extracardiac conduit (n=14), and direct cavopulmonary connection (n=2). Postoperative complications included infections in 27 patients, liver function damage in 19 patients, and acute kidney injury in 11 patients. There were 5 early deaths. The median follow-up time was 94.7 (64.3, 129.8) months. The 1-year, 5-year, and 10-year survival rates were 87.2%, 85.3%, and 74.3%, respectively. After propensity score matching, there were 45 patients in the HS group and 81 patients in the non-HS group. Compared to the non-HS group, those with HS had longer surgical and mechanical ventilation time, higher infection rates (P<0.05), and a 12.9% lower 10-year survival rate. Multivariate Cox regression analysis identified asplenia was a risk factor for mortality (HR=8.98, 95%CI 1.86-43.34, P=0.006). Conclusion Compared to non-HS patients, patients with HS have lower survival rates after TCPC, and asplenia is an independent risk factor for the survival of these patients.