When inflammation is continuously activated or dysregulated， it can induce chronic tissue injury and organ dysfunction， and participate in the occurrence and development of various inflammatory diseases such as atherosclerosis and inflammatory bowel disease. Owing to high targeting， long-acting efficacy and programmability， nucleic acid drugs provide a new direction for the treatment of inflammatory diseases. This article reviews the classification， mechanism of action and application progress of nucleic acid drugs in inflammatory diseases. It is found that small interfering RNA （siRNA） can specifically cut target mRNA through RNA interference to achieve inhibiting the expression of the target protein； antisense oligonucleotide （ASO） can inhibit target protein expression by inducing microRNA （miRNA） degradation or regulating splicing processes； miRNA can achieve network intervention by regulating multiple inflammatory target genes. At present， important breakthroughs have been made in the field of inflammatory diseases with siRNA drugs including Lumasiran， Nedosiran （for primary hyperoxaluria 1） and Inclisiran （for atherosclerosis）， ASO drugs including Donidalorsen （for hereditary angioedema）， Volanesorsen and Olezarsen （for familial chylomicronemia syndrome） and Lademirsen （for Alport syndrome）， as well as miRNA drugs including Obefazimod （for inflammatory bowel disease） and Remlarsen （for pathological fibrosis）. These drugs are expected to become a new generation of anti-inflammatory therapeutic strategies and bring more precise and efficient treatment options for patients with chronic inflammation and fibrotic diseases.

A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

ObjectiveTo understand the uncorrected visual acuity, spherical equivalent and hyperopia reserve of 6‒8-year-old primary school students in Jing’an District of Shanghai, and to provide a scientific basis for further myopia prevention and control. MethodsA total of 619 children aged between 6‒8 years old from three primary schools in Jing’an District were selected by cluster sampling method for uncorrected eye visual acuity examination and diopter examination after cycloplegia (mydriasis). ResultsThe mean uncorrected visual acuity of the619 students aged 6‒8 years old was (4.9±0.2), and the mean spherical equivalent was (0.84±1.11) D. The difference in uncorrected visual acuity was not statistically significant as the age increased (F=0.057, P=0.812), but the spherical equivalent decreased with the increase of age, showing a statistically significant difference (F=26.533, P<0.001). There was no statistically significant difference in uncorrected visual acuity(t=-1.614, P=0.107) and spherical equivalent (t=-1.675, P=0.094) between students of different genders. Finally, among the 619 students, 59.80% of them had abnormal uncorrected visual acuity, 34.90% had insufficient hyperopia reserve, and only 5.30% had sufficient hyperopia reserve. Besides, the proportion of abnormal uncorrected visual acuity in 7-year-old students was 67.50%, higher than that of students with other ages, and the difference was statistically significant (χ²_trend=29.729, P<0.001). While the difference in abnormal uncorrected visual acuity between students of different genders was not statistically significant (χ²=0.068, P=0.967). ConclusionThe deficiency of hyperopia reserve in 6‒8-year-old students in Jing’an District of Shanghai is serious. Attention should be paid to the visual acuity of school-aged children in lower grades, and intervention measures should be actively carried out to slow down the progression of myopia.

Objective: To investigate the current prevalence of myopia and the progression of the axial length/corneal radius ratio(AL/CR) among primary school students in Jing an District, Shanghai, and to analyze the value of dynamic AL/CR monitoring and elucidate its longitudinal association with myopia progression, so as to provide evidences for supporting myopia prevention and control interventions. Methods: From 2019 to 2023, by using a stratified cluster random sampling method, 17 624 students from two primary schools in Jing an District, Shanghai were selected for annual vision screenings in five consecutive years. Additionally, a retrospective cohort of 480 eligible first grade students identified in 2019 was followed up until 2023. The analysis focused on the myopia prevalence and the trend in the AL/CR. Differences in screening myopia rates across different student groups from 2019 to 2023 were compared using the Chi square test. The trends in myopia rates were analyzed using the Chi square trend test. The Kruskal-Wallis H test was employed to compare AL/CR and its annual increment across groups. A linear mixed effects model was used to identify factors influencing AL/CR, and a time dependent Cox regression model was developed to predict the risk of myopia onset. Results: From 2019 to 2023, the screening myopia rates were 36.65%, 38.31%, 40.47%, 39.56%, and 39.76% for each respective year. Cohort analyses revealed Grade 5 girls had significantly greater AL/CR increments than boys ( Z =-2.05, P <0.05). Linear mixed models identified baseline AL/CR ( β =1.051, 95% CI =1.012-1.091), grade level ( β =0.040, 95% CI =0.038- 0.042 ), and first year AL/CR increment ( β =0.788, 95% CI =0.733-0.843) as primary determinants (all P <0.01). Boys showed slower AL/CR progression than girls ( β =-0.003, 95% CI =-0.005 to-0.001, P <0.01). The time dependent Cox model demonstrated that both baseline AL/CR ( Z =3.40) and its time varying effect ( Z =10.41) significantly predicted myopia risk(both P <0.01). The effect of AL/CR on myopia risk significantly increased with follow up time, and the growth rate exceeded a linear progression pattern. Conclusions AL/CR progression is primarily driven by baseline values and grade advancement, with slower progression in boys. Dynamic AL/CR monitoring outperforms baseline measurements in predicting myopia progression. Students with rapid AL/CR increments require early intervention.

Objective:To construct an evaluation index system for the development of compact county medical communities, so as to provide evaluation tools for promoting the high-quality development of county medical communities in China.Methods:Based on the evaluation criteria and monitoring system related policy documents for the construction of county medical communities released at the national level, an evaluation index system for compact county medical community development was constructed through policy text analysis and expert discussions. The system was applied to evaluate the construction of medical communities in Shaxian County of Fujian Province, A County of Shanxi Province, and B County of Yunnan Province.Results:The evaluation index system included four primary indicators: responsibility community, management community, service community, and interest community, covering 11 secondary indicators and 32 tertiary indicators. The evaluation results showed that the construction level of the compact county medical community in Shaxian County (91.3 points) was slightly higher than that of A County and B County (83.1 and 83.9 points), and its advantages were mainly reflected in management community and interest community. There was still room for improvement in the construction of compact medical communities in all three regions.Conclusions:The evaluation system in this study combined scientific rigor and practical guidance value. It could provide guidance for promoting the construction of compact county medical communities in various regions of China, and provide a basis for relevant policy formulation and optimization.

Objective:To construct an evaluation index system for the development of compact county medical communities, so as to provide evaluation tools for promoting the high-quality development of county medical communities in China.Methods:Based on the evaluation criteria and monitoring system related policy documents for the construction of county medical communities released at the national level, an evaluation index system for compact county medical community development was constructed through policy text analysis and expert discussions. The system was applied to evaluate the construction of medical communities in Shaxian County of Fujian Province, A County of Shanxi Province, and B County of Yunnan Province.Results:The evaluation index system included four primary indicators: responsibility community, management community, service community, and interest community, covering 11 secondary indicators and 32 tertiary indicators. The evaluation results showed that the construction level of the compact county medical community in Shaxian County (91.3 points) was slightly higher than that of A County and B County (83.1 and 83.9 points), and its advantages were mainly reflected in management community and interest community. There was still room for improvement in the construction of compact medical communities in all three regions.Conclusions:The evaluation system in this study combined scientific rigor and practical guidance value. It could provide guidance for promoting the construction of compact county medical communities in various regions of China, and provide a basis for relevant policy formulation and optimization.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.

Objective: To analyze the prevalence and trend of screening myopia among primary and middle school students in Linfen Community of Shanghai from 2019 to 2023, so as to provide a reference for the prevention and control of myopia from the perspective of the community. Methods: From 2019 to 2023, all primary(5) and middle(2) school students aged 6-15 years in Linfen Community of Shanghai were screened. Statistical analysis was performed using the Chi square test and trend Chi square test. The curve fitting model was used to fit the model of the increase rate of screening myopia among primary and middle school students in 2019, 2021 and 2023. Results: The overall rate of screening myopia among primary and middle school students in Linfen community from 2019 to 2023 was 55.17%. The prevalence rate of screening myopia was 79.43% in boys and 81.92% in girls in middle school, and the difference was statistically significant ( χ 2=5.71, P =0.02). In 2019, 2021, and 2023, the peak age of screening myopia among primary and middle school students in Linfen Community gradually occurred earlier, at the age of 7(12.13%), 6( 12.28 %), and 6(14.99%) years old, respectively. The growth rate of screening myopia in students aged 8-12 years in 2023 was lower than that in 2019 and 2021. Conclusions The screening myopia rate of primary and middle school students aged 6-15 years in Linfen Community is relatively high, with primary school girls higher than boys, and growth spurt accelerates. It is suggested that prevention and control of myopia in the community should focus on preschool children and adolescent girls.

Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.