[Activated phosphoinositide 3-kinase delta syndrome: report of seven cases]. / PI3Kδ过度活化综合征7例报道.

OBJECTIVES: To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome (APDS) and enhance understanding of the disease. METHODS: A retrospective analysis was conducted on clinical data of 7 APDS children admitted to Hunan Provincial People's Hospital from January 2019 to August 2023. RESULTS: Among the 7 children (4 males, 3 females), the median age of onset was 30 months, and the median age at diagnosis was 101 months. Recurrent respiratory tract infections, hepatosplenomegaly, and multiple lymphadenopathy were observed in all 7 cases. Sepsis was observed in 5 cases, otitis media and multiple caries were observed in 3 cases, and diarrhea and joint pain were observed in 2 cases. Lymphoma and systemic lupus erythematosus were observed in 1 case each. Fiberoptic bronchoscopy was performed in 4 cases, revealing scattered nodular protrusions in the bronchial lumen. The most common respiratory pathogen was Streptococcus pneumoniae (4 cases). Six patients had a p.E1021K missense mutation, and one had a p.434-475del splice site mutation. CONCLUSIONS: p.E1021K is the most common mutation site in APDS children. Children who present with one or more of the following symptoms: recurrent respiratory tract infections, hepatosplenomegaly, multiple lymphadenopathy, otitis media, and caries, and exhibit scattered nodular protrusions on fiberoptic bronchoscopy, should be vigilant for APDS. Citation:Chinese Journal of Contemporary Pediatrics, 2024, 26(5): 499-505.

["Massive hemoptysis" and shock after fever and cough]. / 发热咳嗽后大"咯血"ä¼‘å ‹.

A boy, aged 11 years, was admitted due to intermittent fever for 15 days, cough for 10 days, and "hemoptysis" for 7 days. The boy had fever and cough with left neck pain 15 days ago, and antibiotic treatment was effective. During the course of disease, the boy developed massive "hemoptysis" which caused shock. Fiberoptic bronchoscopy revealed a left pyriform sinus fistula with continuous bleeding. In combination with neck and vascular imaging examination results, the boy was diagnosed with internal jugular vein injury and thrombosis due to congenital pyriform sinus fistula infection and neck abscess. The boy was improved after treatment with temperature-controlled radiofrequency ablation for the closure of pyriform sinus fistula, and no recurrence was observed during the follow-up for one year and six months. No reports of massive hemorrhage and shock due to pyriform sinus fistula infection were found in the searched literature, and this article summarizes the clinical features, diagnosis, and treatment of this boy, so as to provide a reference for the early diagnosis of such disease and the prevention and treatment of its complications.

[Flux Characteristics of CO2, CH4, and N2 O and their Influencing Factors in Different Types of Ditches on the Chengdu Plain].

In order to study the flux characteristics of CH4, CO2 and N2O in different ditches and their influencing factors, three types of ditches (an agricultural ditch, agricultural-living compound ditch, and living ditch) were monitored once a month from March 2014 to February 2015 using static floating chambers in the Chengdu Plain. The results showed that:① Affected by human activities, CO2, CH4, and N2O fluxes were high in ditches and ranged from -2.26-1504.40 mg·(m2·h)-1, 0.69-40.00 mg·(m2·h)-1, and -2.27-70.35 µg·(m2·h)-1,respectively. All are higher in summer compared to autumn and spring, and are lowest in winter. ② The flux of CO2 in agricultural-living compound ditches was significantly higher than that in agricultural ditches and living ditches (P<0.05), and the fluxes of CH4 and N2O in living ditches were significantly higher than those in agricultural ditches and agricultural-living compound ditches (P<0.05). ③ Water temperature and rainfall were the main environmental factors affecting CO2, CH4, and N2O fluxes, and DO (dissolved oxygen) and TN (total nitrogen) were the main environmental factors affecting CO2 and N2O fluxes. NH4+-N (ammonium nitrogen) and DO were the main water quality parameters affecting the CH4 flux.