To investigate the clinical features of laryngeal papilloma in children.Method:In a group of 62 patients with laryngeal papilloma in children,the tumors of 28 patients were cut under the direct laryngoscope,34 patients were treated with laryngeal micro-laser operation.Result:The post-operation followup ranged from 2 to 5 years,the cure rate of 2 years was 51.61%.Conclusion:The clinical features of this disease include rapid development,a large lesion,and it is often found in the infraglottic cavity.Furthermore,we believe that in order to eliminate the tumors more accurately and decrease recurrence,microlaser surgery and the use of interferon is very necessary.

Objective:To observe the motor capacity of patients early after cardiac surgery using a cardiopulmonary exercise test.Methods:Patients who had performed a cardiopulmonary exercise test within 3 months after cardiac surgery were included in this retrospective study. Patients who took the test within 30 days of the operation formed a discharge group ( n=20), those within 30 to 60 days and 60 to 90 days formed the one month and two month groups ( n=10 for both). The discharge group was further divided into an aortic surgery group ( n=9), a bypass surgery group ( n=6) and a valve surgery group ( n=5) according to their procedure. The exercise capacity of each person was measured in terms of the changes in heart rate and systolic pressure from the resting to the anaerobic threshold stage. Anaerobic threshold, peak oxygen uptake and carbon dioxide ventilation equivalent were also recorded. Results:All of the patients completed the cardiopulmonary exercise test above the anaerobic threshold, and no adverse events such as exercise accidents occurred. At the anaerobic threshold the average heart rate of the discharge group was (8.8±7.1)bpm, significantly lower than the averages of the one month and two months groups: (17.0±5.9) and (18.3±10.5)bpm respectively. The average anaerobic thresholds and peak oxygen uptakes of the 1 month and 2 months groups were not significantly different, but they were all significantly higher than the discharge group′s averages. There were, however, no significant differences among the groups in the average changes in their systolic pressure and carbon dioxide ventilation equivalent. Moreover, the average anaerobic threshold and peak oxygen uptake of the aortic surgery group and the bypass surgery group were significantly lower than the valve surgery group′s averages.Conclusions:Postoperative motor ability after cardiac surgery improves significantly for at least 30 days. Patients who have received aortic or bypass surgery have significantly lower exercise capacity than those after valve surgery.

Objective: To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML). Methods: Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR). Results: Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P<0.05). Conclusion Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.

Objective:To develop and validate an artificial intelligence (AI) diagnostic model for coronary artery disease based on facial photos.Methods:This study was a cross-sectional study. Patients who were scheduled to undergo coronary angiography (CAG) at Beijing Anzhen Hospital and Beijing Daxing Hospital from August 2022 to November 2023 were included consecutively. Before CAG, facial photos were collected (including four angles: frontal view, left and right 60° profile, and top of the head). Photo datasets were randomly divided into a training set, a validation set (70%), and a testing set (30%). The model was constructed using Masked Autoencoder (MAE) and Vision Transformer (ViT) architectures. Firstly, the model base was pre-training using 2 million facial photos obtained from the publicly available VGGFace dataset, and fine-tuned by the training and validation sets; the model was validated in the test set. In addition, the ResNet architecture was used to process the dataset, and its outputs were compared with those of the models based on MAE and ViT. In the test set, the area under the operating characteristic curve ( AUC) of the AI model was calculated using CAG results as the gold standard. Results:A total of 5 974 participants aged 61 (54, 67) years were included, including 4 179 males (70.0%), with a total of 84 964 facial photos. There were 79 140 facial photos in the training and validation sets, with 3 822 patients with coronary artery disease; there were 5 824 facial photos in the test set, with 239 patients with coronary artery disease. The AUC value of the MAE and ViT model initialized with pre-training model weights was 0.841 and 0.824, respectively. The AUC of the ResNet model initialized with random weights was 0.810, while the AUC of the ResNet model initialized with pre-training model weights was 0.816. Conclusion:The AI model based on facial photos showes good diagnostic performance for coronary artery disease and holds promise for further application in early diagnosis.

Objective:To investigate the impact of the deep-learning-based CT fractional flow reserve (CT-FFR) on clinical decision-making and long-term prognosis in patients with obstructive coronary heart disease.Methods:In this single-center retrospective cohort study, consecutive patients with obstructive coronary heart disease (with at least one stenosis≥50%) on their first coronary computed tomography angiography (CCTA) in Beijing Anzhen Hospital from February 2017 to July 2018 were included. Baseline clinical and CT characteristics were collected. Deep-learning-based CT-FFR and Leiden CCTA risk score were calculated. All patients enrolled were followed up for at least 5 years. The study endpoint was major adverse cardiovascular events (MACE), defined as the composite of cardiac death, nonfatal myocardial infarction, unstable angina requiring hospitalization, and unplanned revascularization. Receiver operating characteristic (ROC) curves were drawn to define the optimal cut-off point of the Leiden score in predicting the 5-year MACE, and survival analysis and Cox regression were performed to explore the related factors of MACE.Results:A total of 622 patients, aged 61 (54, 66) years, with 407 (65.4%) males were included. Diagnostic coronary angiography was performed in 78 patients after their baseline CCTA, with 34 (43.6%) patients had CT-FFR>0.80. During a follow-up time of 2 181 (2 093, 2 355) days, 155 patients (24.9%) suffered from MACE. ROC derived optimal cut-off point of Leiden score for predicting MACE was 15.48. Survival analysis found that male patients, Leiden risk score>15 and CT-FFR≤0.80 had worse prognosis. Multivariate Cox regression analysis identified CT-FFR≤0.80 as an robust and independent predictor of MACE ( HR=4.98, 95% CI 3.15-7.86, P<0.001). Conclusion:Deep-learning-based CT-FFR aids in clinical decision-making and the evaluation of long-term prognosis in patients with obstructive coronary heart disease.

OBJECTIVE: To explore the genetic basis for a child with clinically suspected 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her parents. Whole exome sequencing was used to screen pathogenic variant in the proband. Suspected variant was verified by Sanger sequencing. Impact of the variant on the structure and function of protein product was analyzed by using bioinformatic software. RESULTS: Sanger sequencing showed that the proband has carried homozygous missense c.1342G>A (p.Gly448Ala) variant of the MCCC2 gene, for which her mother was a heterozygous carrier. The same variant was not detected in her father. The variant was predicted to be pathogenic by PolyPhen-2 and Mutation Taster software, and the site was highly conserved among various species. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1342G>A (p.Gly448Ala) variant of MCCC2 gene was predicted to be likely pathogenic(PM2+PP2-PP5). CONCLUSION The homozygous missense variant of the MCCC2 gene c.1342G>A (p.Gly448Ala) probably underlay the molecular pathogenesis of the proband. Genetic testing has confirmed the clinical diagnosis.
Carbon-Carbon Ligases/genetics* ; Child ; Female ; Humans ; Male ; Mutation, Missense/genetics* ; Pedigree ; Urea Cycle Disorders, Inborn/genetics*

Objective:To investigate the correlation between clinical phenotypes and genetic characteristics of children with ring chromosomes (RCs).Methods:Case series study.The clinical data of 11 434 children who received treatment and peripheral blood chromosome karyotype detection in Henan Children′s Hospital from October 2008 to October 2023 due to growth retardation, intellectual impairment or congenital malformation were analyzed retrospectively.A total of 25 children with RCs were selected.Their age at diagnosis, karyotype distribution, clinical manifestations, and genetic detection results were analyzed.Results:RCs were detected in 25 out of 11 434 children, with a detection rate of 0.21%.The genome-wide copy number variation (CNV) analysis was performed on 7 RCs cases, and it found that pathogenic variation existed in all of them.Among the 25 RC cases (11 males and 14 females of social gender), the age at diagnosis ranged from 2 months to 14 years; there were 20 autosomal rings and 5 sex chromosome rings; 13 cases had chimeric karyotypes, and 12 cases had non-chimeric karyotypes.Most of the 25 children showed clinical manifestations of mental or developmental retardation, and some also presented with specific clinical manifestations, such as short stature, congenital malformation, and epilepsy.Conclusions:The pathogenesis of RCs is complex.The clinical manifestations are determined by both RCs syndrome and specific phenotypes caused by the dose effect and exhibit high heterogeneity, so it is easy to miss or misdiagnose.The combined application of cellular and molecular genetic detection technology can facilitate early diagnosis and treatment of RCs, and the correlation analysis of phenotypes and genetic characteristics can provide guidance for genetic counseling.

Objective:To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes.Methods:Two patients treated at the Children′s Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES). This study was approved by the Children′s Hospital of Henan Province (Ethics No. 2023-K-075).Results:Child 1 had mainly manifested developmental delay, white matter hypoplasia, type 1 diabetes mellitus, and micropenis. He was found to have a chromosomal karyotype of 46, XY, r(18)(p11.21q22.1)[40]/46, XY[7], and CNV-seq results showed that he has a 14.86 Mb deletion at 18p11.21p11.32 and a 14.02 Mb deletion at 18q22.1q23. Child 2 had peculiar facial features, delayed white matter myelination, developmental delay, atrial septal defect, severe sensorineural deafness, and congenital laryngeal stridor. He was found to have a chromosomal karyotype of 46, XY, r(18)(p11.2q23). CNV-seq result proved that he had a 14.86 Mb deletion at 18p11.21p11.32 and a 20.74 Mb deletion at 18q21.32q23. WES has failed to detect single nucleotide variants (SNVs) in either child, but revealed a large segmental deletion at chromosome 18 in both of them.Conclusion:Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.