Objective To mine and analyze the routine blood test data of children with allergic rhinitis (AR), identify routine blood parameters related to childhood allergic rhinitis, establish an effective diagnostic model, and evaluate the performance of the model. Methods This study was a retrospective study of clinical cases. The experimental group comprised a total of 1110 children diagnosed with AR at the First Affiliated Hospital of Air Force Medical University during the period from December 12, 2020 to December 12, 2021, while the control group included 1109 children without a history of allergic rhinitis or other allergic diseases who underwent routine physical examinations during the same period. Information such as age, sex and routine blood test results was collected for all subjects. The levels of routine blood test indicators were compared between AR children and healthy children using comprehensive intelligent baseline analysis, with indicators of P≥0.05 excluded; variables were screened by Lasso regression. Binary Logistic regression was used to further evaluate the influence of multiple routine blood indexes on the results. Five kinds of machine model algorithms were used, namely extreme value gradient lift (XGBoost), logistic regression (LR), gradient lift decision tree (LGBMC), Random forest (RF) and adaptive lift algorithm (AdaBoost), to establish the diagnostic models. The receiver operating characteristic (ROC) curve was used to screen the optimal model. The best LightGBM algorithm was used to build an online patient risk assessment tool for clinical application. Results Statistically significant differences were observed between the AR group and the control group in the following routine blood test indicators: mean cellular hemoglobin concentration (MCHC), hemoglobin (HGB), absolute value of basophils (BASO), absolute value of eosinophils (EOS), large platelet ratio (P-LCR), mean platelet volume (MPV), platelet distribution width (PDW), platelet count (PLT), absolute values of leukocyte neutrophil (W-LCC), leukocyte monocyte (W-MCC), leukocyte lymphocyte (W-SCC), and age. Lasso regression identified these variables as important predictors, and binary Logistic regression further analyzed the significant influence of these variables on the results. The optimal machine learning algorithm LightGBM was used to establish a multi-index joint detection model. The model showed robust prediction performance in the training set, with AUC values of 0.8512 and 0.8103 in the internal validation set. Conclusion The identified routine blood parameters can be used as potential biomarkers for early diagnosis and risk assessment of AR, which can improve the accuracy and efficiency of diagnosis. The established model provides scientific basis for more accurate diagnostic tools and personalized prevention strategies. Future studies should prospectively validate these findings and explore their applicability in other related diseases.
Humans ; Male ; Female ; Rhinitis, Allergic/blood* ; Child ; Biomarkers/blood* ; Retrospective Studies ; Early Diagnosis ; Child, Preschool ; ROC Curve ; Logistic Models ; Hematologic Tests ; Algorithms ; Adolescent ; Machine Learning

Purpose To investigate the relationships between the genetic variations and clinicopathological fea-tures of thyroid carcinoma in a single-center cohort.Methods The correlation between genetic profiling and clinico-pathologic characteristics of thyroid carcinomas detected by next-generation sequencing was analyzed.Results 93.7％of 238 cases of thyroid cancer had Class Ⅰ or Class Ⅱ variations.Compared with TCGA cohort,the single-center of pa-tients with papillary thyroid cancer(PTC)were younger(44.4±12.4 vs 46.8±15.5,P=0.043),and the rate of lymph node metastasis was higher(57.5％vs 49.2％,P=0.046).The frequency of BRAF gene mutation was signifi-cantly higher(82.4％vs 59.7％,P＜0.001),that of RAS gene mutation(2.3％vs 12.9％,P＜0.001)and TERT promoter mutation was lower(1.8％vs 9.4％,P＜0.001).There were no differences in the incidences of RET fusion(5.4％vs 6.8％,P=0.484)and NTRK fusion(4.1％vs 2.1％,P=0.127).Gene mutations were detected in 210 of 221(95.0％)patients with PTC,including BRAF(182/221,82.4％),RET fusion(12/221,5.4％),NTRK fusion(9/221,4.1％),FGFR amplification(6/221,2.7％),CCND1 amplification(6/221,2.7％),FGFR19 am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and TERT(4/221,1.8％).NTRK fusion was associated with younger age(P=0.049)and higher T stage(P=0.005),while TERT promoter mutation was associated with older age(P=0.003)and higher T stage(P=0.001).8.6％(19/221)of thyroid papillary car-cinoma had at least two driver gene variants and tended to occur in patients with older age(P=0.001)and higher T tage(P=0.001).Higher mutation allele fraction(MAF)of BRAF was associated with T stage(P＜0.001)and N stage(P=0.017).Conclusion Chinese patients with papillary thyroid carcinomapatients show unique genetic vari-ant characteristics,and the patients with NTRK fusion,TERT promoter mutation,multiple driver gene variations,or high MAF of BRAF show specific clinicopathologic features.

Purpose To investigate the relationships between the genetic variations and clinicopathological fea-tures of thyroid carcinoma in a single-center cohort.Methods The correlation between genetic profiling and clinico-pathologic characteristics of thyroid carcinomas detected by next-generation sequencing was analyzed.Results 93.7％of 238 cases of thyroid cancer had Class Ⅰ or Class Ⅱ variations.Compared with TCGA cohort,the single-center of pa-tients with papillary thyroid cancer(PTC)were younger(44.4±12.4 vs 46.8±15.5,P=0.043),and the rate of lymph node metastasis was higher(57.5％vs 49.2％,P=0.046).The frequency of BRAF gene mutation was signifi-cantly higher(82.4％vs 59.7％,P＜0.001),that of RAS gene mutation(2.3％vs 12.9％,P＜0.001)and TERT promoter mutation was lower(1.8％vs 9.4％,P＜0.001).There were no differences in the incidences of RET fusion(5.4％vs 6.8％,P=0.484)and NTRK fusion(4.1％vs 2.1％,P=0.127).Gene mutations were detected in 210 of 221(95.0％)patients with PTC,including BRAF(182/221,82.4％),RET fusion(12/221,5.4％),NTRK fusion(9/221,4.1％),FGFR amplification(6/221,2.7％),CCND1 amplification(6/221,2.7％),FGFR19 am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and TERT(4/221,1.8％).NTRK fusion was associated with younger age(P=0.049)and higher T stage(P=0.005),while TERT promoter mutation was associated with older age(P=0.003)and higher T stage(P=0.001).8.6％(19/221)of thyroid papillary car-cinoma had at least two driver gene variants and tended to occur in patients with older age(P=0.001)and higher T tage(P=0.001).Higher mutation allele fraction(MAF)of BRAF was associated with T stage(P＜0.001)and N stage(P=0.017).Conclusion Chinese patients with papillary thyroid carcinomapatients show unique genetic vari-ant characteristics,and the patients with NTRK fusion,TERT promoter mutation,multiple driver gene variations,or high MAF of BRAF show specific clinicopathologic features.

A 27-year-old male was admitted to the Xijing Hospital in August 2018 due to unprovoked severe thoracodynia with palpitations, shortness of breath and chest tightness. Computed tomography angiography showed a type A aortic dissection. Genetic testing based on next-generation sequencing for 15 genes associated with hereditary aortic diseases and Sanger sequencing validation revealed a heterozygous missense mutation c.998G>T (p.Gly333Val) in the COL3A1 gene. Sanger sequencing verification of family members confirmed that the mutation c.998G>T co-segregated with the patient′s phenotype in this family. That mutation was classified as "likely pathogenic" according to American College of Medical Genetics and Genomics standards and guidelines for genetic variant classification. Carriers of this mutation can be definitively diagnosed with "vascular Ehlers-Danlos syndrome". After the diagnosis was clarified, symptomatic treatment was given to the patient, but the disease progressed rapidly. The patient discontinued treatment and died shortly after being discharged. In this study, we found a new variant in the COL3A1 gene, expanding the mutation spectrum of this gene.

OBJECTIVE: To analyze the clinical phenotypes and genetic variants of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. METHODS: A pedigree presented at the First Affiliated Hospital of Air Force Medical University on December 24,2021 was selected as the study subject. Activated partial thromboplastin time (APTT) and coagulation factor Ⅻ activity (FⅫ:C) were determine by a clotting method, and FⅫ antigen was detected with an ELISA assay. Following the extraction of genomic DNA, all exons and flanking regions of the F12 gene were subjected to Sanger sequencing. Clustalx-2.1-win, PROVEAN and Swiss-PDB Viewer software was used to analyze the conservation of amino acids at the variant sites, impact of of the variants on the amino acid substitutions and the protein structure. RESULTS: The APTT of the proband has prolonged to 70.2 s. Her FⅫ:C and FⅫ:Ag have decreased to 12% and 13%, respectively. DNA sequencing revealed that the proband has harbored c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) heterozygous compound missense variants in exons 5 and 13 of the F12 gene, respectively. Her father and sister were heterozygous carriers for the c.346G>A (p.Gly97Ser) variant, whilst her mother and brother were heterozygous for the c.1583C>A (p.Ser509Tyr) variant. CONCLUSION The c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) compound heterozygous variants of the F12 gene probably underlay the pathogenesis of hereditary coagulation FⅫ deficiency in this pedigree.
Humans ; Male ; Female ; Pedigree ; Factor XII/genetics* ; Mutation ; East Asian People ; Heterozygote ; Mothers ; Factor XII Deficiency/genetics*

Purpose To study the consistency of NTRK fu-sion gene in the thyroid carcinoma detected by four technology platforms:immunohistochemistry,DNA-based NGS,FISH and qRT-PCR.Methods NTRK fusion gene was detected by FISH,immunohistochemical(IHC),DNA-based NGS and qRT-PCR in a same group of 40 clinical cases(among them,31 cases were thyroid cancer samples).Results In a group of 31 thyroid cancer cases detected by four techniques,compared with FISH,the sensitivity,specificity,positive predictive value(PPV),negative predictive value(NPV)and total coincidence rate(TCR)of IHC was 100%(9/9),90.9%(20/22),81.8%(9/11),100%(20/20),93.5%(29/31),respectively.The PPV of IHC was poor.The sensitivity,specificity,PPV,NPV and TCR of DNA-based NGS was 44.4%(4/9),100%(22/22),100%(4/4),81.5%(22/27),83.9%(26/31),respectively,and the sensitivity was poor.The TCR of qRT-PCR was 100%(31/31).Compared with FISH,Kappa value of IHC,DNA-based NGS and qRT-PCR was 0.853,0.532 and 1.000,respectively.Of the 40 clinical cases,the concordance between qRT-PCR and FISH was observed for 39 samples,for the qRT-PCR assay did not cover the NTRK fusion type(LM-NA:exon4-NTRK1:exon10).Compared with FISH,the coinci-dence rate of qRT-PCR was highest.Conclusion The RNA-based assay of qRT-PCR does have the advantages of high sensi-tivity and high specificity,and may be an optimal scheme for routine clinical detection of NTRK fusion variation in thyroid cancer in pathology department.

Crohn′s disease complicated with mesenteric fibromatosis is rare in clinical practice. We report a case that the patient with Crohn′s disease developed mesenteric fibromatosis after 1.5 years of infliximab treatment, hoping to enrich clinicians′ experience.

Objective:To investigate the diagnosis and clinical characteristics of five elderly patients with Chlamydia psittaci-caused severe pneumonia.Methods:Through retrospective analysis, diagnosis and treatment process and clinical characteristics of five elderly inpatients with severe pneumonia caused by Chlamydia psittaci were summarized in the Department of Critical Care Medicine, Quanzhou First Hospital East Street Branch Area, affiliated to Fujian Medical University between January to June 2021.Results:Five patients with severe pneumonia caused by Chlamydia psittaci were aged from 64 to 74 years, with various underlying diseases such as coronary heart disease, chronic heart failure, chronic obstructive pulmonary disease, etc.All patients had an established history of poultry exposure.These cases had high fever, cough, spitting, and dyspnea as the main clinical manifestations.Some of them also had systemic symptoms or weakness of the limbs as the prodromal symptoms.The disease progressed rapidly, with severe respiratory failure, acute kidney injury, and shock appearing soon, accompanied by different degrees of muscle injury, and damage to the heart, liver, blood coagulation, and immune systems at the same time.Laboratory examination showed that levels of inflammatory indicators were increased: at 3, 5, 7 d after admission, the level of C reactive protein was 214.6(153.9-256.3)mg/L, 199.2(115.8-333.8)mg/L, 151.0(11.19-173.7)mg/L, respectively; and interleukin 6 level was 1 241.0(912.1-6822.0)ng/L, 779.1(451.2-7122.0)ng/L, 631.2(7.0-4 321.0)ng/L, respectively.And monitoring results of nutritional index indicated a high metabolic state.The imaging examinations showed that consolidation and ground-glass shadows spreaded to both lungs, may accompany the miliary and nodular shadows, and may also involve pleural which caused pleural effusion.After the clinical use of metagenomic next-generation sequencing(mNGS), mNGS has been confirmed as an important method for the diagnosis of Chlamydia psittaci infection.The disease course and prognosis were related to the severity of the disease, advanced age, underlying diseases, and timely diagnosis and effective treatment.Conclusions:The progression of Chlamydia psittaci pneumonia to severe disease may be related to advanced age, more basic diseases such as chronic cardiopulmonary disease, smoking, and timely diagnosis and treatment.Generally, laboratory and imaging examinations have no diagnostic specificity, but mNGS is of great significance for early diagnosis, transition to target treatment and improvement of prognosis.

Crohn′s disease complicated with mesenteric fibromatosis is rare in clinical practice. We report a case that the patient with Crohn′s disease developed mesenteric fibromatosis after 1.5 years of infliximab treatment, hoping to enrich clinicians′ experience.

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency. METHODS: Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function. RESULTS: DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion (p.252delAsn) in exon 9 of the F12 gene, for which her father, mother and brother were heterozygous carriers. The same deletion was not found in her sister. CONCLUSION The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.