Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Background: Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from NLRP3 gene mutations. In recent years, these conditions have been redefined as NLRP3-associated autoinflammatory diseases (NLRP3-AID). Our previous study highlighted a case of a Chinese individual carrying the de novo NLRP3 mutation. Results: A female child carrying a de novo variant (c.1718T>G, p. L573W) in the NLRP3 gene was presented in this work. The patient manifested various symptoms, including recurrent fever, a rash resembling urticaria, arthritis, physical growth retardation, a notable prominence of the forehead, and a flat nose bridge. Additionally, inflammatory markers, like WBC count, PLT count, CRP, ESR, and IL-6 showed elevated levels. Additionally, we observed interstitial pulmonary disease in the patient, which is not frequently mentioned in previous studies. Notably, the proband did not present with any ocular, auditory, or neurological symptoms. After 12 weeks of subcutaneous canakinumab injection, there was a clear improvement in the patient's clinical manifestations and inflammatory markers. Conclusion: Our study contributes to broadening the clinical spectrum of established pathogenic variants of NLRP3 gene, which are related to NLRP3-AID.

Study on Filling Support Design and Ground Pressure Monitoring Scheme for Gob-Side Entry Retention by Roof Cutting and Pressure Relief in High-Gas Thin Coal Seam.

To ensure the successful application of roof cutting and pressure relief in the gob, to retain the roadway in a high-gas thin coal seam, by taking the 2109 working face of the Mingxin coal mine as the engineering background, this paper comprehensively analyzes and studies the key parameters of high-water material filling and support and the law of ground pressure behavior. The results show that the high-water material filling body has the characteristics of high strength, rapid resistance increase, strong flexibility and high strength in the later stage, which can meet the requirements for retaining roadway support along the goaf. On this basis, we determined that the water-cement ratio for a high-water material filling body is 1.5:1 and the filling length, height and width each time are 3.6 m, 2.2 m and 1.0 m, respectively. In addition, a ground-pressure monitoring scheme for retaining the roadway along the goaf is put forward and the results show that the displacement of the roof and floor and the deformation of the filling body are both within a reasonable range, which proves high-water material filling support can effectively ensure the stability and integrity of the roof of the gob, thus retaining the roadway in a high-gas thin coal seam.

Incidence of retinopathy of prematurity in southwestern China and analysis of risk factors.

BACKGROUND: The aim of this study was to screen for retinopathy of prematurity (ROP) in southwestern China and understand the prevalence and risk factors of ROP, which may provide evidence useful in the prevention and treatment of ROP. MATERIAL/METHODS: 1864 preterm infants (gestational age of <37 weeks and birth weight of ≤2500 g) underwent ROP screening from January 2009 to November 2012 in Southwest China. The medical information of infants during perinatal period was reviewed, and risk factors of ROP were determined. A total of 1614 infants were recruited for final analysis. RESULTS: Incidence of ROP was 12.8%. The first, second, third, and fourth stage of ROP was found in 64.6%, 29.6%, 3.4%, and 0.5% of infants, respectively. No fifth stage of ROP was observed. In addition, 7.7% of infants required surgical intervention. In our Department of Neonatology, the incidence of ROP was 20.0%, which was significantly higher than in non-hospitalized patients (9.9%). The incidence of ROP remained unchanged over the years. Independent risk factors of ROP included low birth weight (p=0.049), low gestational age (p=0.008), days of oxygen supplementation (p=0.008), and myocardial injury after birth (p=0.001). CONCLUSIONS: The prevalence of ROP in preterm infants is relatively high in Southwest China, and low birth weight, low gestational age, days of oxygen supplementation, and myocardial injury after birth are independent risk factors for ROP.