[Clinicopathological features of hepatic fibrinogen storage disease in children].

Objective: To investigate the clinicopathological and molecular characteristics of hepatic fibrinogen storage disease (FSD) in children. Methods: The clinical, histopathologic, immunophenotypic, ultrastructural and gene sequencing data of 4 FSD cases were collected from September 2019 to January 2021 in the Children's Hospital of Fudan University, Shanghai, China. Retrospective analysis and literature review were conducted. Results: There were 4 cases of FSD, 3 males and 1 female, aged 3 years and 3 months to 6 years (median age, 3 years and 4 months). The clinical manifestations were abnormal liver function and abnormal blood coagulation function, for which 2 cases had family genetic history. Liver biopsies revealed that, besides liver steatosis, fibrosis and inflammation, there were single or multiple eosinophilic inclusion bodies of various sizes and surrounding transparent pale halo in hepatocytes. Immunohistochemistry showed that the inclusion bodies were positive for anti-fibrinogen. Under the electron microscope, they corresponded to the dilated cisternae of the rough endoplasmic reticulum, which were occupied by compactly packed tubular structures and arranged into a fingerprint-like pattern with curved bundles. Gene sequencing revealed that the 2 cases of FGG mutation were located in exon 8 c.1106A>G (p.His369Arg) and c.905T>C (p.Leu302Pro), and 1 case was located in exon 9 c.1201C>T (p.Arg401Trp). No pathogenic variant was detected in the other case. Conclusions: FSD is a rare genetic metabolic disease and clinically manifests as abnormal liver function with hypofibrinogenemia. In the background of liver steatosis, fibrosis and inflammation, there are eosinophilic inclusions with pale halo in the hepatocytic cytoplasm, which can be identified by anti-fibrinogen immunohistochemical staining. The fingerprint-like structures under electron microscope are helpful for the diagnosis, while FGG sequencing detects the pathogenic mutation of exon 8 or 9 that can clearly explain the phenotype. However, the diagnosis of FSD cannot be completely ruled out if the relevant mutations are not detected.

[Epidemiology of allergic rhinitis in children in grassland of Inner mongolia].

Objective: To investigate the self-reported prevalence, clinical characteristics, complications of allergic rhinitis (AR) and the sensitization of outdoor air pollen allergens in children in the Inner mongolia grassland region. Methods: A multistage, stratified and random clustered sampling with a face-to-face interview survey study in children from 0 to 17 years old was performed together with 10 common allergen skin prick tests (SPT) and measurements of the daily pollen count in 6 regions in the Inner mongolia grassland region from May to August of 2015. SAS 9.4 software was used for data analysis. Results: A total of 2 443 subjects completed the study. The self-reported prevalence of AR was 26.6%. The prevalence of boys was higher than that of girls (28.8% vs 24.3%, χ(2)=6.157, P<0.05). Subjects from urban areas showed higher prevalence than rural areas (34.7% vs 18.8%, χ(2)=79.107, P<0.05). There was significant regional difference in the prevalence of AR among the six areas investigated (χ(2)=221.416, P<0.05). The main clinical symptoms of AR were sneezing (88.2%) and nasal congestion (78.6%). Among combined diseases, asthma accounted for 16.5% (107/650), rhinoconjunctivitis accounted for 47.9% (311/650). The peak season of AR was April and July, with the top SPT positive allergens of Artemisia species and chenopodium in this area. Conclusions: The prevalence AR in children in the Inner mongolia grassland region is extremely high. Sneezing is the main clinical symptom. Rhinoconjunctivitis is the most common combined disease. High summer and autumn pollen exposure is the main cause of AR.

[Gene expression profile analysis involved in pathogenesis of allergic rhinitis by using bioinformatics method as a novel way of drug screening].

Objective: To analyze the dynamic changes of the clinical features of chronic rhinosinusitis in recent 10 years, so as to deeply understand the characteristics of chronic rhinosinusitis, and to provide new ideas for treatment of chronic rhinosinusitis. Method: This retrospective study was performed in patients who were diagnosed as chronic rhinosinusitis and enrolled. General information, clinical examination and pathological results were all collected, then patients' age, gender, the incidence of asthma and allergic rhinitis, peripheral eosinophil percentage, olfactory dysfunction and pathological results were statistically analyzed. Result: 1 955 patients who were diagnosed as chronic rhinosinusitis(CRS) were enrolled in this study, including 570 patients in 2006, 583 patients in 2010, and 802 patients in 2015. There were no obvious changes of age structure in these patients in three years. And there was no significant change in sex ratio as well. The proportions of patients with CRS concomitant with asthma were obviously increased in 10 years, which was 3.51% in 2006, 7.55% in 2010, and 17.58% in 2015. The proportions of patients with allergic rhinitis were also increased, which was 10.35% in 2006, 8.75% in 2010, and 14.09% in 2015. Peripheral eosinophil ratio was increased significantly in these patients after 2010. The proportions of ECRS in CRS were elevated in 2015 and almost doubled compared to 2006. Olfactory dysfunction increased significantly in 2015. Conclusion: In recent 10 years, there were obvious changes of clinical features of CRS. The proportion of patients with CRS concomitant with asthma showed a gradual increasing trend. ECRS significantly increased than it was 10 years ago. Olfactory dysfunction also increased significantly. In order to improve the therapeutic effect of CRS, it is necessary to strengthen the treatment of upper and lower airway inflammation related with eosinophil.

[Observation on pollinosis with vegetable food allergy].

Objective: To investigate the incidence of plant food allergy in patients with pollinosis and the effect of food allergens on the clinical symptoms of pollinosis patients. Method: A total of 40 patients with pollinosis and food allergy attended to the allergy Department of Duolun People's Hospital of Inner Mongolia were accepted skin prick test of inhaled allergens while the rhino conjunctivitis quality of life questionnaire(RQLQ) were also completed. The patients were divided into A and B groups randomly. Patients in group A were required for avoiding allergic plant foods intake but not them in group B. The two groups of patients with RQLQ, VAS and clinical symptom scores were statistically analyzed by P<0.05, the difference was statistically significant. Result: Forty cases were allergic to Artemisia. The most common allergic plant foods was peach, which accounted for 47.5%. Twenty-four patients were allergic to multiple foods simultaneously. Seventeen cases of pollinosis were preceded by food allergy, and 23 cases of food allergy were preceded by pollinosis. The mean values of RQLQ, VAS and symptom scores in group A were 81.44±14.31, 6.02±1.39, 10.60±3.68, respectively. The mean values of group B patients after 1 years were 100.73±21.66, 8.30±1.00, 13.45±3.51, the difference was statistically significant (P<0.01). The patients in group A complained that the symptoms were better than before. The mean values of RQLQ, VAS and symptom scores before intervention were 105.2±26.69, 7.00±1.71, 14.83±3.66, with significant difference (P<0.01). There was no significant improvement in the symptoms of Group B patients (P>0.05). Conclusion: Patients with pollinosis are often associated with food allergies. Reducing the intake of allergic plant foods should help alleviate symptoms.

[Clinical observation on specific immunotherapy of allergic rhinitis with artemisia pollen].

Objective:The aim of this study is to observe the clinical efficacy of pollen specific immunotherapy with Artemisia in allergic rhinitis. Method:A total of 139 patients with allergic rhinitis who were positive for Artemisia pollen were selected for allergen skin pricking. All of them were treated with Artemisia pollen-specific immunotherapy. The patients were followed-up for 3 months, respectively before treatment (N), after treatment start interval. 3 months (D1, D2, D3) followup fill in the total score of nasal symptoms (TNSS), visual analogue scale (VAS) score, olfactory function grading, ocular symptom score (TOSS) and rhinoconjunctivitis quality of life questionnaire (RQLQ) )score. Result:TNSS：N>D1，N>D2，N>D3，D1,D2,D3 two of the three compared to no difference.VAS：N>D1，N>D2，N>D3，among D1,D2,D3, two of the three compared to no difference. Olfactory function classification:N>D1，N>D2，N>D3，among D1,D2,D3, two of the three compared to no difference.TOSS：N>D1，N>D2，N>D3，among D1,D2,D3,D1>D2,the rest had no difference. RQLQ: N>D1, N>D2, N>D3, D1>D2, D3>D1, D3>D2. Conclusion:The specific pollen immunotherapy of artemisia is effective in the treatment of allergic rhinitis, and the symptoms are obviously improved.

[Comparative study on different methods of detecting eosinophils in nasal polyps].

Objective: To investigate whether there were differences between the three stains for eosinophil counting in nasal polyps. Method: Three serial sections of formalin-fxed, paraffn-embedded tissues of 23 cases of nasal polyps were stained with Congo red,Chromotrope 2R and conventional HE staining, respectively. The stained sections were converted to digital pathology using a digital slice scanner. The qualitative assessment of the staining results was made in terms of specificity, contrast and background staining. Eosinophils were quantitatively evaluated and statistically analyzed using the Image J Analysis System and GraphPad Prism 5 statistical software. Result: Congo red staining and Chromotrope 2R staining were more specific than conventional HE staining. Chromotrope 2R had the lowest background staining. The majority of Congo red staining (n=20) was lighter in the background than in the conventional HE, while a small number of cases (n=3) background staining slightly stronger. Both Congo red staining and Chromotrope 2R staining had statistically significant differences compared with conventional HE staining (P<0.05), but there was no significant difference between Congo red staining and Chromotrope 2R staining (P>0.05). Conclusion: Congo red staining and Chromotrope 2R staining are more suitable for accurate counting of eosinophils, and the use of these two methods contributes to the harmonization of eosinophil count criteria in the ECRSwNP definition.