As an emerging field in medical imaging, radiomics performs a series of qualitative and quantitative analysis with extracting innumerable high-throughput features from medical images, providing information about the diagnosis and prognosis of diseases. Radiomics has become an important part of precision medicine, and received more and more attention. However, there were relatively few researches in the pediatric diseases with MRI-based radiomics. The progresses of MRI-based radiomics in pediatrics diseases were reviewed in this article.

Objective To assess the brain development of newborns with cardiac septal defects by MRI.Methods The brain MR images of 150 newborns with cardiac septal defects and 50 normal newborns were analyzed retrospectively.We evaluated the brain development by measuring the four indices of lateral ventricle:anterior horn index (F/F'),body index (D/D'),caudate nucleus index (C/C')and Evans index.Independent samples t test was used to compare the differences between the two groups,and the possible positive diagnostic cut-off points were calculated by using the nonparametric ROC analysis.Results There were no significant differences between the congenital heart disease group and the control group in the two indices:F/F'[(0.301±0.035)vs (0.296±0.031);t=1.035,P>0.05]and Evans index [(0.239±0.052)vs (0.233±0.025);t=0.778,P>0.05].The values of D/D'[(0.261±0.039)vs (0.234±0.032);t=3.873,P<0.05)] and C/C'[(0.138±0.018)vs (0.124±0.015);t=4.479,P<0.05]were significantly higher in the congenital heart disease group than in the control group.In the congenial heart disease group,the area under the ROC curve obtained by D/D'and C/C'were 0.698 and 0.750,respectively.The maximum Yuedeng index corresponding to the D/D'value and the C/C'value were 0.28 and 0.12,respectively. Conclusion The body index(D/D')and the caudate nucleus index(C/C')are sensitive to evaluate the differences of the brain volume between the newborns with cardiac septal defects and the normal newborns.It is helpful to find the abnormal brain volume when the value of D/D'is greater than 0.28 and the value of C/C'is greater than 0.12.

Objective To explore the best percentage of adaptive statistical iterative reconstruction Veo (ASiR-V)in detection of pulmonary nodule by chest ultralow dose CT (ULDCT).Methods 81 patients with pulmonary nodule detected by chest low dose CT (LDCT)underwent a local ULDCT scan at the center of the nodule with a range of 3 cm scan length.LDCT was performed with the mode of the Assist kV (120/100 kV)/Smart mA with noise indices of 14.1 HU and reconstructed with ASiR-V 50% algorithm.ULDCT was acquired at a tube potential of 120 kV and tube current-time product of 2.8 mAs and reconstructed with ASiR-V 50%,70% and 90%algorithms.Subjective and obj ective image qualities,sensitivities of detection and diameter of nodule among all ULDCT images were compared.Results Compared with the radiation dose of LDCT [(0.9 9±0.3 6)mSv],a 90.2% decrease was seen with the ULDCT, for which the calculated mean effective radiation dose was (0.097±0.007)mSv.The noise values of fat and paravertebral muscle for ULDCT reconstructed with ASiR-V 90% were 12.33±1.86 and 14.82±2.6,which were significantly lower than those in the group of ASiR-V 50% (1 9.73±1.98, 21.19±2.46)and the group of ASiR-V 70% (15.79±1.82,17.71±2.50)(P＜0.05).The subjective scores of images reconstructed with ASiR-V 70% (4.13±0.47)were the highest,which were slightly higher than those in 90%groups (4.03±0.38)(P＜0.05).No significant differences for overall sensitivity of nodule detection were observed among the ULDCT reconstructed with ASiR-V 50%(86.42%),ASiR-V 70%(87.04%)and ASiR-V 90% (88.89%)(P＞0.05).The mean nodule diameter measurements were (6.4±2.0)mm,(5.9±2.2)mm,(6.0±2.2)mm and (6.1 ±2.2)mm for LDCT and ULDCT (ASiR-V 50%,70% and 90%),respectively with P＞0.05.Conclusion At extremely low exposure levels,ASiR-V can obviously improve the image qualities of ULDCT,and 90% is the best percentage for lung algorithm reconstruction with a high sensitivity of pulmonary nodule detection.

Objective:To explore the influence of airway mucus plugs on patients with bronchial asthma and its management.Methods:In this cross-sectional study, from January 2020 to June 2022, 100 patients who were diagnosed with asthma and underwent chest CT examination in the Outpatient Department of Peking University Third Hospital were included. The chest CT results and medical history, pulmonary function, fractional exhaled nitric oxide (FeNO), blood routine, total allergen IgE, Aspergillus fumigatus M3 allergen-specific IgE antibody test results were collected. According to the results of chest CT, the asthma patients were divided into group with mucus plugs and those without mucus plugs. Distribution of airway mucus plugs and the mucus plug scores based on lung segments were calculated. The relationships of mucus plugs with medical history, pulmonary function [These included before and after the bronchodilation test, forced vital capacity percent of predicted value (FVC%pred), forced expiratory volume in one second percent of predicted value (FEV 1%pred), FEV 1/FVC, peak expiratory flow percent of predicted value (PEF%pred), maximal mid-expiratory flow percent of predicted value (MMEF%pred), maximal expiratory flow at 25%, 50%, 75% of vital capacity remaining percent of predicted value (MEF 25%pred, MEF 50%pred, MEF 75%pred)], FeNO, and peripheral blood eosinophil (Eos) counts were analyzed. The logistic regression model was used to analyze whether airway mucus plug was a risk factor for asthma exacerbation, and the corresponding intervention strategies were explored. Results:Among the 100 patients with asthma, 24 cases were in the mucus plug group and 76 cases were in the non-mucus plug group. The distribution of mucus plug was more common in the lower lungs (30.53% and 9.16% in the lower and upper lobe of left lung, respectively; 29.01%, 14.50% and 16.80% in the lower, middle and upper lobe of right lung, respectively). The average score of mucus plug was (4.42±3.12) points. The body mass index (BMI), the number of visits to a doctor due to asthma exacerbations, FeNO, peripheral blood Eos counts in the mucus plug group were higher than those in the non-mucus plug group [(24.95±4.34) vs (23.22±2.91) kg/m 2, 0(0, 1) vs 0(0, 0), 97(37, 169) vs 31(18, 59) ppb (1 ppb=1×10 -9), 0.41(0.15, 0.70) vs 0.18(0.09, 0.37)×10 9/L](all P<0.05), and FVC%pred, FEV 1%pred, FEV 1/FVC, PEF%pred, MEF 50%pred, MEF 25%pred, MMEF%pred, MEF 75%pred were lower than those in the non-mucus plug group [(87.49±19.32)% vs (97.34±14.24)%, (76.49±19.58)% vs (91.07±18.33)%, (72.44±10.91)% vs (79.48±8.13)%, (82.36±24.46)% vs (93.83±18.27)%, (53.03±24.81)% vs (75.75±27.15)%, (46.47±22.92)% vs (64.09±25.90)%, (50.28±23.73)% vs (74.53±26.80)%, (71.30±27.55)% vs (89.92±26.82)%] (all P<0.05). In the group with mucus plug, the airway mucus plug score was positively correlated with the patient′s body weight and the number of peripheral blood Eos counts at enrollment ( r=0.413, 0.478; all P<0.05), and negatively correlated with FVC%pred and FEV 1%pred ( r=-0.576, -0.465; all P<0.05). Logistic regression analysis showed that airway mucus plug score was a risk factor for acute asthma attack ( OR=1.269, 95% CI: 1.031-1.562; P=0.024). Conclusions:Asthma patients have a high incidence of airway mucus plug, which is related to the level of Eos inflammation and body size. Airway mucus plugs can promote airflow obstruction and acute exacerbation of asthma. In clinical practice, appropriate asthma management policies can be formulated for airway mucus plugs to delay the progression of asthma and reduce the number of acute attacks.

Objective:To identify 3 the disease-causing genes and mutations of Leber congenital amaurosis (LCA), and to study the correlation of phenotype and genotype.Methods:A retrospective study. Four LCA patients and seven family members who were diagnosed by eye examination in Ning Xia Eye Hospital of People's Hospital of Ningxia Hui Autonomous Region from January to December 2021 were included in the study. Four patients were from 3 unrelated families. Detailed collection of medical history and family history were received. Related ophthalmologic examination were collected and genomic DNA was extracted from peripheral blood. Whole-exome sequencing method was used for genetic diagnosis. The identified variant was confirmed with Sanger sequencing. Potential pathogenic mutation was analyzed using software and conserved domain analysis and performed co-separated analysis between the family member and the proband.Results:Of the 4 patients, 1 patient was males and 3 patients were females; the age was from 4 to 18 years. Nystagmus were seen in 3 cases, finger pressing eyes and night blindness was seen in 1 cases; electroretinogram showed 4 cases of extinction or near extinction. The foveal reflection was visible in all eyes, and there was no obvious abnormality in the peripheral retina. One eye had strong reflection signal with raised ellipsoid in macular area; two eyes had weak reflection signal faintly visible between retinal layers; 1 eye had increased blood vessel branches, peripheral retinal non-perfusion area with capillary leakage; annular strong autofluorescence in macular area 4 eyes. No obvious abnormality was found in the phenotypes of family members. Genetic testing showed that the proband of pedigree 1 (Ⅱ-1) was found a homozygous missense mutation in c.640A>T (p.C214S) (M1) of PRPH2 gene. The proband of pedigree 2 (Ⅱ-2) was found compound heterozygous mutation in c.1256G>A(p.R419Q) (M2) and c.1A>C (p.M1L) (M3) of TULP1 gene. The proband 3 (Ⅱ-1) and her sister (Ⅱ-2) were both found compound heterozygous mutation in c.1943T>C (p.L648P) (M4) and c.380C>T (p.P127L) (M5) of GUCY2D gene. The parents and sister (Ⅱ-1) of the proband in family 2 and the parents of the proband in family 3 were all carriers of the corresponding heterozygous variant. M1, M3, M4, M5 were novel mutations and unreported. The genotype and disease phenotype were co-segregated within the family. According to the analysis of pedigree and genetic testing results, all 3 families were autosomal recessive inheritance. The amino acid conservation analysis found that M1, M2, M3, M4, and M5 were highly conserved among species. The results of bioinformatics analysis were all pathogenic variants. Conclusions:PRPH2 gene M1, TULP1 gene M3, and GUCY2D gene M4, M5 were novel mutations and not been reported in the literature and database. This research expanded the gene mutation spectrum of LCA. The patients with LCA have available characterristics, including onset age, varying ocular fundus and severe visual impairment.