OBJECTIVE: To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL). METHODS: A child who was admitted to Ningbo Women and Children's Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063). RESULTS: Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. CONCLUSION For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.
Child, Preschool ; Humans ; DNA Copy Number Variations/genetics* ; Down Syndrome/genetics* ; GATA1 Transcription Factor/genetics* ; Leukemia/congenital* ; Mosaicism ; Mutation ; Retrospective Studies ; Whole Genome Sequencing

Objective:To investigate the risk factors of adenomatous colorectal polyps in advanced stage.Methods:Retrospective cross-sectional study. A total of 400 hospitalized patients with colorectal polypectomy and pathological diagnosis of adenomatous polyps (Aps) were selected from December 2020 to December 2022 in Shenzhen Hospital of Beijing University of Chinese Medicine (Longgang), of which 107 patients with progressive adenomas and 293 patients with common adenomas were selected. General information of patients (name, gender, age, BMI), history of smoking, alcohol consumption, history of hypertension, history of diabetes mellitus, and results of 13C urea breath test were collected to analyze the risk factors for the development of adenomas in patients with progressive adenomas and their syndromic characteristics. Results:The distribution of male patients with advanced adenoma was significantly higher than that of common adenoma patients [70.09% (75/107) vs. 57.34% (168/293), P=0.021], and the ages were [(52.25±9.81) years vs. (48.41±10.23) years, P=0.001], BMI [(24.37±3.19) kg/m 2vs. (23.38±3.25) kg/m 2, P=0.007] significantly higher than those of ordinary adenoma patients. Intestinal damp-heat syndrome was the common witness type in both advanced and common adenomas, and the distribution of intestinal damp-heat syndrome in advanced adenomas was significantly higher than that in common adenomas [43.0% (46/107) vs. 32.1% (94/293); χ2=4.10, P=0.043]. The distribution of patients with alcohol drinking history in advanced adenomas was significantly higher than that in common adenomas [61.7% (66/107) vs. 39.3% (115/293); χ2=15.92, P<0.001]. The distribution of diabetic patients with advanced adenoma was significantly higher than that of common adenoma patients [29.9% (32/107) vs. 14.7% (43/293); χ2=19.94, P<0.001]. The infection rate of Hp in advanced adenoma patients was significantly higher than that in common adenoma patients [66.4% (71/107) vs. 44.7% (131/293); χ2=14.69, P<0.001]. Logistic regression analysis showed that age, BMI, male, intestinal damp-heat syndrome, drinking history, diabetes history and Hp infection were risk factors for the development of patients with progressive adenomas ( P<0.05 or P<0.01). Conclusion:Intestinal damp-heat syndrome is the key syndrome in patients with progressive adenoma, and age, BMI, male, history of alcohol consumption, history of diabetes mellitus and Hp infection are the risk factors for its development.

Objective To evaluate the value of MicroPure imaging system of ultrasonography in display of breast calcification,and explore its clinical application value.Methods One hundred and forty-one patients underwent by mammography,conventional ultrasound imaging and MicroPure imaging,the mammography results were reference standard,observing the display rate of MicroPure imaging for calcification,and the value of MicroPure imaging in the display of calcification with different shapes on mammography.As the pathologic diagnosis was golden standard,the accuracy of diagnosis of conventional ultrasound,conventional ultrasound combined with MicroPure imaging,conventional ultrasound combined with mammography were evaluated with receiver operating characteristic(ROC) curve.Results The display case of calcifications within breast masses:the specificity of MieroPure imaging was lower than conventional ultrasound(88.14％ vs 100％,P ＜ 0.05),the sensitivity and accuracy were higher than conventional ultrasound(100％ vs 62.79％,93.14％ vs 84.31 ％,P ＜0.05).The display case of microcalcifications within normal breast tissue:the specificity and accuracy of MicroPure software system were lower than conventional ultrasound(9.26％ vs 100％,43.87％ vs 65.96％,P ＜0.05),the sensitivity was higher than conventional ultrasound (100％ vs 20.00％,P ＜0.05).The punctate calcification,amorphous calcification,rough uneven,pleomorphic calcifications on mammography were all hyperechoic spots on MicroPure software system.The area under the ROC curve of the conventional ultrasound,conventional ultrasound combined with MicroPure imaging,conventional ultrasound combined with MicroPure imaging was 0.881,0.858,0.932,respectively.Conclusions MicroPure imaging has some clinical value on microcalcifications within breast masses,which can improve its sensitivity and accuracy.The specificity of MicroPure imaging diagnostic ultrasound imaging of microcalcifications were lower,and it can not distinguish between different shapes of calcifications.Compared with conventional ultrasound,MicroPure imaging system can not improve the accuracy of diagnosis of benign and malignant breast lesions.

ObjectiveTo investigate the correlation of radial artery and serum osteoprotegerin (OPG) expression and vascular calcification in patients with end stage renal disease.MethodsDiscarded radial arteries were gathered from 43 patients with end stage renal disease(end stage renal disease group)during arterial venous fistula plasty,including 24 patients with no calcification,13 patients with mild to moderate calcification and 6 patients with severe calcification,20 patients with dialysis and 23 patients without dialysis.Discarded arteries from 9 patients with upper limb trauma were chosen as control group.The yon Kossa staining,alizarin red staining and OPG immunohistochemical staining were taken and serum OPG level was measured for all the patients.ResultsSerum OPG level was significantly higher in end stage renal disease group than that in control group [(216.47±83.78) ng/L vs.(57.15±23.22) ng/L,P＜ 0.01 ].Serum OPG level in patients with no calcification,mild to moderate calcification and severe calcification[ ( 152.21±32.21 ),(248.31±53.86),(368.44±53.57) ng/L] and OPG staining value ( 1,2,4 scores) were increased gradually as vascular calcification more serious (P＜ 0.01 ).There was a positive relationship between serum OPG and vascular calcification value(alizarin red staining:r =0.517,P ＜ 0.01 ; yon Kossa staining:r =0.677,P＜ 0.01 ).Serum OPG level and OPG staining value in patients with dialysis were higher than those in patients without dialysis [ (283.57±79.02 ) ng/L vs.( 152.46±30.89 ) ng/L,2 scores vs.1 score,P ＜ 0.01 ].ConclusionsThere is relationship between serum OPG level,OPG expression of radial artery and vascular calcification.