[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].

OBJECTIVE: To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD). METHODS: Two children diagnosed with CACTD at the Gansu Provincial Maternal and Child Health Care Hospital respectively on January 3 and November 19, 2018 were selected as the study subjects. Trio-whole exome sequencing (trio-WES) was carried out, and candidate variants were validated through Sanger sequencing and pathogenicity analysis. RESULTS: Both children were males and had manifested mainly with hypoglycemia. Trio-WES and Sanger sequencing showed that child 1 had harbored compound heterozygous variants of the SLC25A20 gene, namely c.49G>C (p.Gly17Arg) and c.106-2A>G, which were inherited from his father and mother, respectively. Child 2 had harbored homozygous c.199-10T>G variants of the SLC25A20 gene, which were inherited from both of his parents. Among these, the c.106-2A>G and c.49G>C variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.49G>C (p.Gly17Arg), c.106-2A>G, and c.199-10T>G variants were classified as likely pathogenic (PM2_supporting+PP3+PM3_strong+PP4), pathogenic (PVS1+PM2_supporting+PM5+PP3), and pathogenic (PVS1+PM2_supporting+PP3+PP5), respectively. CONCLUSION: Combined with their clinical phenotype and genetic analysis, both children were diagnosed with CACTD. Above finding has provided a basis for their treatment as well as genetic counseling and prenatal diagnosis for their families.

The Status and Influencing Factors of COVID-19 Vaccination for 3-7-Year-Old Children Born Prematurely.

Objective: To explore the status and influencing factors of COVID-19 vaccination for 3-7-year-old children born prematurely. Methods: A questionnaire was administered to parents of preterm infants born between 1 January 2016 and 31 December 2019 in Gansu Maternal and Child Health Hospital using convenience sampling. Results: It was found that 96.81% of 282 parents had known about COVID-19 vaccines and acquired COVID-19- and vaccine-related knowledge primarily through WeChat (104/282, 36.88%) and TikTok (91/282, 32.27%). Most parents of the group whose children were vaccinated with a COVID-19 vaccine believed that this approach was effective in preventing COVID-19 (49.75%), whereas most parents of the group whose children were not vaccinated were worried about the adverse reaction and safety of the vaccine (45.88%). According to the regression analysis, the risk factors of children born prematurely receiving a COVID-19 vaccine were no vaccination against COVID-19 in the mothers (odds ratio [OR]=48.489, 95% CI: 6.524-360.406) and in younger children (OR=12.157, 95% CI: 6.388-23.139). Previous history of referral (OR=0.229, 95% CI: 0.057-0.920), history of diseases (OR=0.130, 95% CI: 0.034-0.503) and high educational level of guardians (OR=0.142, 95% CI: 0.112-0.557) were protective factors for children born prematurely to receive COVID-19 vaccination. Conclusion: There is a relatively high proportion of children born prematurely receiving COVID-19 vaccination, but some people still have concerns. Publicity in the later stage can be conducted through WeChat, TikTok and other social media platforms, with special attention paid to the populations with lower education levels.

Pulmonary Function Recovery and Displacement Patterns After Anatomic Segmentectomy vs Lobectomy.

BACKGROUND: The functional benefit of segmentectomy compared with lobectomy remains controversial. This ambispective study characterizes the changes in pulmonary function as correlated to displacement patterns of residual lung after segmentectomies vs lobectomies. METHODS: Patients with normal preoperative pulmonary function and undergoing segmentectomy or lobectomy between 2017 and 2021 were considered. Pulmonary function testing was scheduled preoperatively and at least 3 months postoperatively. Differences in the proportions of the median forced expiratory volume in 1 second (FEV1) reduction between segmentectomy and lobectomy were calculated. Covariance analysis was used to estimate the adjusted postoperative FEV1 (apoFEV1) and compare the difference value (DV) in apoFEV1 between segmentectomy and lobectomy. RESULTS: The study enrolled 634 patients (334 lobectomies and 300 segmentectomies). Median difference in the proportions of the FEV1 reduction between segmentectomy and lobectomy was 4.58%, with maximal difference observed in right S6 (9.08%) and minimal difference in left S1+2+3 (2.80%). For resections involving the upper lobe, apoFEV1 was significantly higher after segmentectomy than after lobectomy (DV, 0.15-0.22 L), except for left S3 and S1+2+3 segmentectomies (DV, 0.08 L and 0.06 L, respectively). Compared with a lower lobe lobectomy, S6 segmentectomy conferred a higher apoFEV1, whereas S7+8 and S9+10 had a similar apoFEV1 (DV, 0.16-0.18 L, 0.07 L, and 0.00-0.06 L, respectively). Functional recovery after segmentectomy was associated with the number of intersegment planes (P < .01) and the presence of an adjacent nonoperated on lobe (P = .03). CONCLUSIONS: Basilar and left S3 segmentectomies did not preserve more pulmonary function compared with their corresponding lobectomies, possibly due to the presence of multiple intersegmental resection planes.

Efficacy and safety of local ablative therapy for patients with NSCLC and coexisting interstitial lung disease.

BACKGROUND: The effective therapeutic approach is still an unmet need for patients diagnosed with both lung cancer and interstitial lung disease (ILD). This is primarily due to the possible risk of ILD exacerbation caused by surgery or radiotherapy. The current study aimed to investigate the efficacy and safety of local ablative therapy (LAT) for this specific population. METHODS: Consecutive patients with non-small cell lung cancer (NSCLC) and ILD who received LAT between January 2018 and August 2022 were enrolled, and propensity score matching (PSM) was utilized to match the non-ILD group. The primary endpoint was recurrence-free survival (RFS), and secondary endpoints included overall survival (OS), adverse events (AEs) and hospital length of stay (HLOS). RESULTS: The PSM algorithm yielded matched pairs in the ILD group (n = 25) and non-ILD group (n = 72) at a ratio of 1:3. There were no statistically significant differences in RFS (median 16.4 vs. 18 months; HR = 1.452, p = 0.259) and OS (median: not reached vs. 47.9 months; HR = 1.096, p = 0.884) between the two groups. Meanwhile, no acute exacerbation of ILD was observed in the ILD group. However, the incidence of pneumothorax, especially pneumothorax requiring chest tube drainage, was significantly higher (36.0% vs. 11.2%, p = 0.005) among patients with NSCLC and co-existing ILD, which resulted in longer HLOS (p = 0.045). CONCLUSION: Although ILD was associated with a higher incidence of pneumothorax, the efficacy of LAT for NSCLC patients with ILD was comparable to those without ILD, suggesting that LAT might be a reliable and effective treatment option for this population, particularly in the early stage.

The clinical and imaging features of eosinophilic cystitis in children: a case series study.

BACKGROUND: Eosinophilic cystitis (EC) is rare in children and remains poorly understood. Our aim was to analyse the clinical and imaging features of eosinophilic cystitis in children. METHODS: A retrospective review of histologically confirmed eosinophilic cystitis between January 2008 and December 2022 was performed, including patient age, sex, symptoms, laboratory examination, radiology, treatment and outcome. RESULTS: Twelve children (two girls, 10 boys; age range: 3-12 years, mean age: 7.2 years) were included in the study. Urinary irritation symptoms (10/12), haematuria (5/12) and hypogastralgia (3/12) were the most common symptoms. Five patients had a history of allergies, six patients had elevated serum IgE, nine patients had elevated peripheral eosinophils and six patients had positive microscopic haematuria. Radiology revealed diffuse homogeneous or inhomogeneous thickening in seven patients, localised thickening in three patients, and solitary tumour-like lesions in the other two patients. Preservation of the mucosal line and bladder wall layering were observed in eleven patients, and perivesical exudation and small vessel dilatation were observed in ten patients. All four patients with delayed scans showed obvious delayed enhancement. One patient showed low signal intensity on T2-W imaging. All patients received antihistamine, antibiotic and/or corticosteroid therapy and two tumour-like patients underwent transurethral resection. Nine patients achieved complete response and three patients achieved partial response. CONCLUSION: The clinical and imaging manifestations of EC in children have relative characteristics; when urologist and radiologist confronted with similar cases, EC should be considered. The final diagnosis depends on pathological biopsy.

Clinicopathologic Features and Survival Outcomes of Primary Lung Mucinous Adenocarcinoma Based on Different Radiologic Subtypes.

BACKGROUND: Primary lung mucinous adenocarcinomas (LMAs) could be subclassified as the pure-solid, part-solid, and pneumonic types according to the findings of high-resolution computed tomography. This study aimed to expound on the clinicopathologic, radiologic, and prognostic characteristics of LMAs based on radiologic classification within a large set of patients. METHODS: From November 2009 to December 2016, this study enrolled 294 resected LMAs, which were divided into the pure-solid (n = 169), part-solid (n = 87), and pneumonic (n = 38) types. The clinicopathologic and radiologic characteristics of the tumors were evaluated, and patient prognosis was determined through follow-up evaluation. Survival outcomes were calculated by Kaplan-Meier curves and compared using log-rank tests. The prognostic impact of clinicopathologic variables, including radiologic presentations, were evaluated by establishing a Cox proportional hazards model. RESULTS: The LMAs were infrequently associated with lymph node metastasis (5.4 %), lymphatic/vascular invasion (4.4 %), or visceral pleural invasion (5.1 %). During the median 71-month follow-up period, recurrence was observed in 62 patients and death in 44 patients. The patients with pneumonic-type LMAs had a poorer prognosis (5-year recurrence-free survival [RFS], 23.7 %; 5-year overall survival [OS], 44.7 %) than those with the pure-solid type (RFS, 83.2 %; OS, 100 %) or part-solid type (RFS, 93.7 %; OS, 100 %). Besides, lymph node metastasis, emphysema, and clinical T stage were independent predictors of RFS and OS. CONCLUSION: Solitary-type LMA patients had excellent prognoses, whereas the survival outcomes for pneumonic-type LMA patients were dismal. Furthermore, pneumonic-type LMA patients were prone to intrapulmonary metastasis by means of aerogenous dissemination rather than distant metastasis.

Cardiac magnetic resonance imaging-derived septum swing index detects pulmonary hypertension: A diagnostic study.

Background and Objectives: Because of pressure differences between the pulmonary artery and aorta, the ventricular septum moves in a swinging motion that is commonly observed on cardiac MR (CMR) cine sequences in patients with pulmonary hypertension (PH). We aimed to assess the use of septum swing index (SSI) derived by CMR for detecting PH. Methods: We retrospectively identified consecutive patients with suspected PH who underwent right heart catheterization (RHC) and CMR at a PH referral center between July 2019 and December 2020. The diagnostic accuracy of SSI for identifying PH (mean pulmonary artery pressure [mPAP] ≥ 25 mmHg) was assessed by receiver operating characteristic curves, sensitivity, specificity, and positive and negative predictive values. Results: A total of 105 patients (mean age: 47.8 ± 15.0 years; 68 females) were included in the final analysis. SSI and mPAP were negatively correlated in the total study population and patients with PH, but not in patients without PH. SSI was an independent predictor of PH (adjusted odds ratio: 12.9, 95% confidence interval: 3.6 to 45.5, P = 0.003). The area under the curve for SSI was 0.91, with a cut-off value of 0.9673 yielding the best balance of sensitivity (86.4%), specificity (88.2%), positive predictive value (97.4%), negative predictive value (55.6%), and accuracy (86.7%) for detecting PH. Conclusions: Septum swing index was lower in patients with PH and is a simple, reliable method for detecting PH.

The utility of quantitative computed tomography in cohort studies of chronic obstructive pulmonary disease: a narrative review.

Background and Objective: Chronic obstructive pulmonary disease (COPD) is a significant contributor to global morbidity and mortality. Quantitative computed tomography (QCT), a non-invasive imaging modality, offers the potential to assess lung structure and function in COPD patients. Amidst the coronavirus disease 2019 (COVID-19) pandemic, chest computed tomography (CT) scans have emerged as a viable alternative for assessing pulmonary function (e.g., spirometry), minimizing the risk of aerosolized virus transmission. However, the clinical application of QCT measurements is not yet widespread enough, necessitating broader validation to determine its usefulness in COPD management. Methods: We conducted a search in the PubMed database in English from January 1, 2013 to April 20, 2023, using keywords and controlled vocabulary related to QCT, COPD, and cohort studies. Key Content and Findings: Existing studies have demonstrated the potential of QCT in providing valuable information on lung volume, airway geometry, airway wall thickness, emphysema, and lung tissue density in COPD patients. Moreover, QCT values have shown robust correlations with pulmonary function tests, and can predict exacerbation risk and mortality in patients with COPD. QCT can even discern COPD subtypes based on phenotypic characteristics such as emphysema predominance, supporting targeted management and interventions. Conclusions: QCT has shown promise in cohort studies related to COPD, since it can provide critical insights into the pathogenesis and progression of the disease. Further research is necessary to determine the clinical significance of QCT measurements for COPD management.

PET/CT based cross-modal deep learning signature to predict occult nodal metastasis in lung cancer.

Occult nodal metastasis (ONM) plays a significant role in comprehensive treatments of non-small cell lung cancer (NSCLC). This study aims to develop a deep learning signature based on positron emission tomography/computed tomography to predict ONM of clinical stage N0 NSCLC. An internal cohort (n = 1911) is included to construct the deep learning nodal metastasis signature (DLNMS). Subsequently, an external cohort (n = 355) and a prospective cohort (n = 999) are utilized to fully validate the predictive performances of the DLNMS. Here, we show areas under the receiver operating characteristic curve of the DLNMS for occult N1 prediction are 0.958, 0.879 and 0.914 in the validation set, external cohort and prospective cohort, respectively, and for occult N2 prediction are 0.942, 0.875 and 0.919, respectively, which are significantly better than the single-modal deep learning models, clinical model and physicians. This study demonstrates that the DLNMS harbors the potential to predict ONM of clinical stage N0 NSCLC.

[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].

OBJECTIVE: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII. METHODS: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing. RESULTS: The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 µmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic. CONCLUSION: The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.

Receipt of COVID-19 vaccine in preterm-born children aged 3-7 in China.

Objectives: To determine the COVID-19 vaccination rate in preterm-born children aged 3-7 in China and influential factors, identify vaccination-related adverse reactions, and clarify reasons behind parental refusal of vaccination to their children. Methods: This cross-sectional study was conducted in parents of preterm-born children aged 3-7 in different regions of China through WeChat. Results: Of 1,924 Chinese preterm-born children aged 3-7 included in this study, 1,552 (80.7%) had been vaccinated against COVID-19, with a higher vaccination rate in eastern China. Children older than 4 years, kids in kindergartens and primary schools, children living in eastern or western China, and children whose fathers had received at least one dose of a COVID-19 vaccine tended to be vaccinated against COVID-19 after adjusting for other covariates. Conversely, children living in urban areas, children whose annual family income was < 50,000 CNY or more than 300,000 CNY, premature children who underwent hospital transfers, and children with underlying diseases were less likely to get vaccinated. Adverse reactions occurred in 59/1,552 (3.8%) vaccinated children. Parents of 118/372 (31.7%) children expressed their concerns over adverse reactions to COVID-19 vaccination. Other reasons like the absence of information about the place where they could get vaccination were mentioned as well. Conclusions: COVID-19 vaccination-related adverse reactions rarely occurred and most of them were mild among preterm-born children aged 3-7. Higher vaccination coverage can be achieved as parents are provided with more scientific data about benefits of vaccination, vaccination contraindications and precautions, and more information about vaccination sites.

Status of the neonatal follow-up system in China: survey and analysis.

BACKGROUND: There is little information about neonatal follow-up programs (NFUPs) in China. This study aimed to conduct a survey of hospitals participating in the Chinese Neonatal Network (CHNN) to determine the status of NFUPs, including resources available, criteria for enrollment, neurodevelopmental assessments, and duration of follow-up. METHODS: We conducted a descriptive study using an online survey of all 72 hospitals participating in CHNN in 2020. The survey included 15 questions that were developed based on the current literature and investigators' knowledge about follow-up practices in China. RESULTS: Sixty-four (89%) of the 72 hospitals responded to the survey, with an even distribution of children's (31%), maternity (33%) and general (36%) hospitals. All but one (98%) hospital had NFUPs, with 44 (70%) being established after 2010. Eligibility criteria for follow-up were variable, but common criteria included very preterm infants < 32 weeks or < 2000 g birth weight (100%), small for gestational age (97%), hypoxic ischemic encephalopathy (98%) and postsurgery (90%). The average follow-up rate was 70% (range: 7.5%-100%). Only 12% of hospitals followed up with patients for more than 24 months. There was significant variation in neurodevelopmental assessments, follow-up schedule, composition of staff, and clinic facilities and resources. None of the staff had received formal training, and only four hospitals had sent staff to foreign hospitals as observers. CONCLUSIONS: There is significant variation in eligibility criteria, duration of follow-up, types of assessments, staffing, training and facilities available. Coordination and standardization are urgently needed.

Multiparametric MRI for evaluation of pathological response to the neoadjuvant chemo-immunotherapy in resectable non-small-cell lung cancer.

OBJECTIVES: This study aimed to explore the predictive value of intravoxel incoherent motion diffusion-weighted imaging (IVIM-DWI) and diffusion kurtosis imaging (DKI) quantitative parameters for the response to neoadjuvant chemo-immunotherapy (NCIT) in resectable non-small-cell lung cancer (NSCLC) patients, so as to provide a basis for clinical individualized precision treatment. METHODS: Treatment naive locally advanced NSCLC patients who enrolled in 3 prospective, open-label, and single-arm clinical trials and received NCIT were retrospectively analyzed in this study. Functional MRI imaging was performed at baseline and following 3 weeks of treatment as an exploratory endpoint to evaluate treatment efficacy. Univariate and multivariate logistic regressions were used to identify independent predictive parameters for NCIT response. Prediction models were built with statistically significant quantitative parameters and their combinations. RESULTS: In total of 32 patients, 13 were classified as complete pathological response (pCR) and 19 were non-pCR. Post-NCIT ADC, ΔADC, and ΔD values in the pCR group were significantly higher than those in the non-pCR group, while the pre-NCIT D, post-NCIT Kapp, and ΔKapp were significantly lower than those in non-pCR group. Multivariate logistic regression analysis demonstrated that pre-NCIT D and post-NCIT Kapp values were independent predictors for NCIT response. The combined predictive model, which consisted of IVIM-DWI and DKI, showed the best prediction performance with AUC of 0.889. CONCLUSIONS: The pre-NCIT D, post-NCIT parameters (ADC and Kapp) and Δ parameters (ΔADC, ΔD, and ΔKapp) were effective biomarkers for predicting pathologic response, and pre-NCIT D and post-NCIT Kapp values were independent predictors of NCIT response for NSCLC patients. CLINICAL RELEVANCE STATEMENT: This exploratory study indicated that IVIM-DWI and DKI MRI imaging would predict pathologic response of neoadjuvant chemo-immunotherapy in locally advanced NSCLC patients at initial state and early treatment, which could help make clinical individualized treatment strategies. KEY POINTS: • Effective NCIT treatment resulted in increased ADC and D values for NSCLC patients. • The residual tumors in non-pCR group tend to have higher microstructural complexity and heterogeneity, as measured by Kapp. • Pre-NCIT D and post-NCIT Kapp values were independent predictors of NCIT response.

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Background Germline mutation in the BMPR2 gene is common in patients with pulmonary arterial hypertension (PAH). However, its association with imaging findings in these patients is, to the knowledge of the authors, unknown. Purpose To characterize distinctive pulmonary vascular abnormalities at CT and pulmonary artery angiography in patients with and without BMPR2 mutation. Materials and Methods In this retrospective study, chest CT scans, pulmonary artery angiograms, and genetic test data were acquired for patients diagnosed with idiopathic PAH (IPAH) or heritable PAH (HPAH) between January 2010 and December 2021. Perivascular halo, neovascularity, centrilobular ground-glass opacity (GGO), and panlobular GGO were evaluated at CT and graded on a four-point severity scale by four independent readers. Clinical characteristics and imaging features between patients with BMPR2 mutation and noncarriers were analyzed using the Kendall rank-order coefficient and the Kruskal-Wallis test. Results This study included 82 patients with BMPR2 mutation (mean age, 38 years ± 15 [SD]; 34 men; 72 patients with IPAH and 10 patients with HPAH) and 193 patients without the mutation, all with IPAH (mean age, 41 years ± 15; 53 men). A total of 115 patients (42%; 115 of 275) had neovascularity, and 56 patients (20%; 56 of 275) had perivascular halo at CT, and so-called frost crystals were observed on pulmonary artery angiograms in 14 of 53 (26%) patients. Compared with patients without BMPR2 mutation, patients with BMPR2 mutation more frequently showed two distinctive radiographic manifestations, perivascular halo and neovascularity (38% [31 of 82] vs 13% [25 of 193] in perivascular halo [P < .001] and 60% [49 of 82] vs 34% [66 of 193] in neovascularity [P < .001], respectively). "Frost crystals" were more frequent in patients with BMPR2 mutation compared with noncarriers (53% [10 of 19] vs 12% [four of 34]; P < .01). Severe perivascular halo frequently coexisted with severe neovascularity in patients with BMPR2 mutation. Conclusion Patients with PAH with BMPR2 mutation showed distinctive features at CT, specifically perivascular halo and neovascularity. This suggested a link between the genetic, pulmonary, and systemic manifestations that underly the pathogenesis of PAH. © RSNA, 2023 Supplemental material is available for this article.

Early Antibiotic Use and Neonatal Outcomes Among Preterm Infants Without Infections.

OBJECTIVES: To determine whether use, duration, and types of early antibiotics were associated with neonatal outcomes and late antibiotic use in preterm infants without infection-related diseases. METHODS: This cohort study enrolled infants admitted to 25 tertiary NICUs in China within 24 hours of birth during 2015-2018. Death, discharge, or infection-related morbidities within 7 days of birth; major congenital anomalies; and error data on antibiotic use were excluded. The composite outcome was death or adverse morbidities. Late antibiotic use indicated antibiotics used after 7 days of age. Late antibiotic use rate was total antibiotic use days divided by the days of hospital stay after the first 7 days of life. RESULTS: Among 21 540 infants, 18 302 (85.0%) received early antibiotics. Early antibiotics was related to increased bronchopulmonary dysplasia (BPD) (adjusted odds ratio [aOR], 1.28; 95% confidence interval [CI], 1.05-1.56), late antibiotic use (aOR, 4.64; 95% CI, 4.19-5.14), and late antibiotic use rate (adjusted mean difference, 130 days/1000 patient-days; 95% CI, 112-147). Each additional day of early antibiotics was associated with increased BPD (aOR, 1.07; 95% CI, 1.04-1.10) and late antibiotic use (aOR, 1.41; 95% CI, 1.39-1.43). Broad-spectrum antibiotics showed larger effect size on neonatal outcomes than narrow-spectrum antibiotics. The correlation between early antibiotics and outcomes was significant among noncritical infants but disappeared for critical infants. CONCLUSIONS: Among infants without infection, early antibiotic use was associated with increased risk of BPD and late antibiotic use. Judicious early antibiotic use, especially avoiding prolonged duration and broad-spectrum antibiotics among noncritical infants, may improve neonatal outcomes and overall antibiotic use in NICUs.

Imaging features of juvenile xanthogranuloma.

BACKGROUND: Juvenile xanthogranuloma is rare in children and there are limited data on its imaging features. OBJECTIVE: To analyze the computed tomography (CT) and magnetic resonance imaging (MRI) features of juvenile xanthogranuloma in children. MATERIALS AND METHODS: A retrospective review was performed of clinical and radiographic data of histologically confirmed juvenile xanthogranuloma between January 2009 and June 2020. RESULTS: Fourteen children (4 girls, 10 boys; age range: 1 day to 13 years, mean age: 73 months) were included in the study: 4/14 had CT only, 5/14 had MRI only and 5/14 had CT and MRI. Sites of extracutaneous juvenile xanthogranuloma involvement included subcutaneous soft tissue (8/14), liver (2/14), lungs (2/14), kidney (2/14), nose (2/14), pancreas (1/14), central nervous system (1/14) and greater omentum (1/14), mainly manifested as single or multiple nodules or masses in different organs. On CT, the lesions mainly manifested as an iso-hypo density mass with mild or marked enhancement. On MRI, the lesions mainly manifested as slightly hyperintense on T1 and slightly hypointense on T2, with decreased diffusivity and homogeneous enhancement. Juvenile xanthogranuloma was not included in the imaging differential diagnosis in any case. CONCLUSION: Juvenile xanthogranuloma mainly manifests as single or multiple nodules or masses in different organs. Slight hyperintensity on T1 and slight hypointensity on T2 with decreased diffusivity and homogeneous enhancement are relatively characteristic imaging findings of juvenile xanthogranuloma. Combined with its typical skin lesions and imaging features, radiologists should include juvenile xanthogranuloma in the differential diagnosis when confronted with similar cases.

Clinicopathological, Oncogenic, and 18F-FDG PET/CT Features of Primary Pulmonary Carcinoid in Resection Specimens.

Objectives: The metabolic parameters which included mean standardised uptake value (SUVmean), metabolic tumour volume (MTV), total lesion glycolysis (TLG), maximum standardised uptake lean body mass (SULmax), and maximum standardised uptake body surface area (SUVbsa) have rarely been investigated in pulmonary carcinoid (PC). This study aimed to retrospectively compare the 18F-FDG PET/CT features of PC subtypes and observe clinicopathological and oncogenic characteristics of PC. Methods: We performed a retrospective review in 60 patients with PC, from January 2016 to November 2021, who underwent the 18F-FDG PET/CT scan. All the PC diagnoses were histopathologic confirmed by surgical samples. The metabolic and morphological features were obtained from 18F-FDG PET/CT images. The ratio of metabolic to morphological lesion volumes (MMVR) was calculated. Results: Sixty patients with PC were consecutively identified, including 39 patients (65.0%) with typical carcinoids (TCs) and 21 (35.0%) with atypical carcinoids (ACs). One (1/21) patient had mutation in BRAF. The ACs have a larger size (P < 0.001), more metastatic lymph nodes (P = 0.011), higher Ki-67 expression (P < 0.001), higher SUVmax values (P = 0.003), higher SUVmean values (P = 0.006), higher SULmax values (P = 0.005), higher SUVbsa values (P = 0.001), higher MTV values (P = 0.033), and higher TLG values (P = 0.002). The multivariate analysis showed that MMVR (P = 0.020) was significantly associated with AC. For predicting AC, the optimal cut-off value of SUVmax, SUVmean, SULmax, SUVbsa, MTV, TLG, and the maximum diameter was 5.19, 3.18, 2.65, 1.47, 4.36, 18.44, and 3.0, respectively. The AUC values of above mentioned parameters was 0.756 (95%CI, 0.631-881; P = 0.001), 0.735 (95%CI, 0.602-868; P = 0.003), 0.736 (95%CI, 0.607-865; P = 0.003), 0.742 (95%CI, 0.612-873; P = 0.002), 0.593 (95%CI, 0.430-755; P = 0.239), 0.680 (95%CI, 0.531-829; P = 0.022), and 0.733 (95%CI, 0.598-868; P = 0.003), respectively. For predicting TC, the optimal cut-off value of the MMVR was 0.92, and the AUC value was 0.780 (95%CI, 0.647-0.913; P < 0.001). Conclusion: 18F-FDG PET/CT can simultaneously reveal the metabolic and morphological characteristics of PC, which is important in the differentiation for histopathologic subtypes.

A deep learning-based system for survival benefit prediction of tyrosine kinase inhibitors and immune checkpoint inhibitors in stage IV non-small cell lung cancer patients: A multicenter, prognostic study.

Background: For clinical decision making, it is crucial to identify patients with stage IV non-small cell lung cancer (NSCLC) who may benefit from tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibitors (ICIs). In this study, a deep learning-based system was designed and validated using pre-therapy computed tomography (CT) images to predict the survival benefits of EGFR-TKIs and ICIs in stage IV NSCLC patients. Methods: This retrospective study collected data from 570 patients with stage IV EGFR-mutant NSCLC treated with EGFR-TKIs at five institutions between 2010 and 2021 (data of 314 patients were from a previously registered study), and 129 patients with stage IV NSCLC treated with ICIs at three institutions between 2017 and 2021 to build the ICI test dataset. Five-fold cross-validation was applied to divide the EGFR-TKI-treated patients from four institutions into training and internal validation datasets randomly in a ratio of 80%:20%, and the data from another institution was used as an external test dataset. An EfficientNetV2-based survival benefit prognosis (ESBP) system was developed with pre-therapy CT images as the input and the probability score as the output to identify which patients would receive additional survival benefit longer than the median PFS. Its prognostic performance was validated on the ICI test dataset. For diagnosing which patient would receive additional survival benefit, the accuracy of ESBP was compared with the estimations of three radiologists and three oncologists with varying degrees of expertise (two, five, and ten years). Improvements in the clinicians' diagnostic accuracy with ESBP assistance were then quantified. Findings: ESBP achieved positive predictive values of 80·40%, 75·40%, and 77·43% for additional EGFR-TKI survival benefit prediction using the probability score of 0·2 as the threshold on the training, internal validation, and external test datasets, respectively. The higher ESBP score (>0·2) indicated a better prognosis for progression-free survival (hazard ratio: 0·36, 95% CI: 0·19-0·68, p<0·0001) in patients on the external test dataset. Patients with scores >0·2 in the ICI test dataset also showed better survival benefit (hazard ratio: 0·33, 95% CI: 0·18-0·55, p<0·0001). This suggests the potential of ESBP to identify the two subgroups of benefiting patients by decoding the commonalities from pre-therapy CT images (stage IV EGFR-mutant NSCLC patients receiving additional survival benefit from EGFR-TKIs and stage IV NSCLC patients receiving additional survival benefit from ICIs). ESBP assistance improved the diagnostic accuracy of the clinicians with two years of experience from 47·91% to 66·32%, and the clinicians with five years of experience from 53·12% to 61·41%. Interpretation: This study developed and externally validated a preoperative CT image-based deep learning model to predict the survival benefits of EGFR-TKI and ICI therapies in stage IV NSCLC patients, which will facilitate optimized and individualized treatment strategies. Funding: This study received funding from the National Natural Science Foundation of China (82001904, 81930053, and 62027901), and Key-Area Research and Development Program of Guangdong Province (2021B0101420005).

Construction of bifunctional bacterial community for co-contamination remediation: Pyrene biodegradation and cadmium biomineralization.

Polycyclic aromatic hydrocarbons and heavy metals are typical pollutants in the non-ferrous metal smelting industry. The combination of biodegradation and biomineralization has great development potential for co-contamination removal as an environmentally friendly method. Pyrene (Pyr) and cadmium (Cd) were regarded as model pollutants of co-contamination in this study. A bifunctional bacterial community named Ycp was screened from a non-ferrous smelting slag field soil. The 16S rRNA gene high throughput sequencing analysis showed that Enterobacter was the dominant genus (99.1%). Ycp had adaptability under a wide range of environmental conditions (pH 3-9, salinity 0-10 g L-1 NaCl, Pyr concentration 0-50 mg L-1, Cd concentration 0-100 mg L-1), and the removal rate of Pyr and Cd reached 41.8%-76.9%, 82.8%-98.8%, respectively. It was found that compound carbon sources had promoting effect on the removal of Pyr and Cd, with the maximum removal rate of 88.3% and 98.0%. According to the degradation products of Pyr by LC-MS analysis and the mineralized products of Cd2+ by XRD and SEM-EDS analysis, the mechanism of Ycp for co-contamination remediation was: Ycp biodegraded Pyr through salicylic acid and phthalic acid metabolic pathways, and biomineralized Cd2+ into CdCO3 through microbially induced carbonate precipitation. This study provided a basis for microbial remediation of co-contamination.

Idiopathic Pulmonary Fibrosis Mortality Risk Prediction Based on Artificial Intelligence: The CTPF Model.

Background: Idiopathic pulmonary fibrosis (IPF) needs a precise prediction method for its prognosis. This study took advantage of artificial intelligence (AI) deep learning to develop a new mortality risk prediction model for IPF patients. Methods: We established an artificial intelligence honeycomb segmentation system that segmented the honeycomb tissue area automatically from 102 manually labeled (by radiologists) cases of IPF patients' CT images. The percentage of honeycomb in the lung was calculated as the CT fibrosis score (CTS). The severity of the patients was evaluated by pulmonary function and physiological feature (PF) parameters (including FVC%pred, DLco%pred, SpO2%, age, and gender). Another 206 IPF cases were randomly divided into a training set (n = 165) and a verification set (n = 41) to calculate the fibrosis percentage in each case by the AI system mentioned previously. Then, using a competing risk (Fine-Gray) proportional hazards model, a risk score model was created according to the training set's patient data and used the validation data set to validate this model. Result: The final risk prediction model (CTPF) was established, and it included the CT stages and the PF (pulmonary function and physiological features) grades. The CT stages were defined into three stages: stage I (CTS≤5), stage II (5 < CTS<25), and stage III (≥25). The PF grades were classified into mild (a, 0-3 points), moderate (b, 4-6 points), and severe (c, 7-10 points). The AUC index and Briers scores at 1, 2, and 3 years in the training set were as follows: 74.3 [63.2,85.4], 8.6 [2.4,14.8]; 78 [70.2,85.9], 16.0 [10.1,22.0]; and 72.8 [58.3,87.3], 18.2 [11.9,24.6]. The results of the validation sets were similar and suggested that high-risk patients had significantly higher mortality rates. Conclusion: This CTPF model with AI technology can predict mortality risk in IPF precisely.