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.

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.

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.

Background::Patients who undergo coronary artery bypass grafting (CABG) are known to be at a significant risk of experiencing long-term adverse events, emphasizing the importance of regular assessments. Evaluating health-related quality of life (HRQoL) serves as a direct method to gauge prognosis. Our objective is to ascertain the prognostic significance of consecutive HRQoL assessments using the Physical Component Summary (PCS) and Mental Component Summary (MCS) derived from the Short-Form 36 (SF-36) health survey in CABG patients.Methods::The study population consisted of 433 patients who underwent isolated elective CABG at Fuwai Hospital between 2012 and 2013. SF-36 assessments were conducted during both the hospitalization period and follow-up. The primary endpoint of the study was all-cause mortality, while the secondary outcome was a composite measure including death, myocardial infarction, stroke, and repeat revascularization. We assessed the relationships between the PCS and MCS at baseline, as well as their changes during the first 6 months after the surgery (referred to as ΔPCS and ΔMCS, respectively), and the observed outcomes.Results::The patients were followed for an average of 6.28 years, during which 35 individuals (35/433, 8.1%) died. After adjusting for clinical variables, it was observed that baseline MCS scores (hazard ratio [HR] for a 1-standard deviation [SD] decrease, 1.57; 95% confidence interval [CI], 1.07–2.30) and ΔMCS (HR for a 1-SD decrease, 1.67; 95% CI, 1.09–2.56) were associated with all-cause mortality. However, baseline PCS scores and ΔPCS did not exhibit a significant relationship with all-cause mortality. Notably, there was a dose-response relationship observed between ΔMCS and the likelihood of all-cause mortality (HRs for the 2nd, 3rd and 4th quartiles compared to the 1st quartile, 0.33, 0.45 and 0.11, respectively).Conclusions::Baseline MCS and changes in MCS were independent predictors for long-term mortality of CABG. Better mental health status and recovery indicated better prognosis.

Objective:To explore the automated synthesis of glucagon-like peptide-1 receptor agonist 18F-AlF-1, 4, 7-triazacyclononane-1, 4, 7-triacetic acid (NOTA)-maleimide (Mal)-cysteine (Cys) 39-exendin-4 ( 18F-exendin-4), and verify its diagnostic efficacy on insulinoma with PET/CT. Methods:Using NOTA-Mal-Cys 39-exendin-4 as the labeled precursor, 18F-exendin-4 was obtained by constructing Al 18F one-step reaction sequence and using All in one multifunctional chemical synthesizer for radiolabelling, purification and preparation. After the quality control, 18F-exendin-4 PET/CT imaging was performed on 1 patient (female, 55 years old) with clinical suspicion of insulinoma. Results:Radiolabelling of 18F-exendin-4 took about 40 min, with the non-decay corrected radiochemical yield of (18.03±2.67)% ( n=3), the molar activity>39.74 GBq/μmol, and the radioactivity concentration>390.00 MBq/ml. The injection was a colorless transparent liquid with pH value of 6.5, and the radiochemical purity>96%. Results of bacteria and endotoxins testing met the standards of Pharmacopoeia of the People′ s Republic of China (2020). PET/CT image analysis showed a nodular high uptake of 18F-exendin-4 in the pancreatic body. The pathological and immunohistochemical results were consistent with the characteristics of neuroendocrine neoplasm (G2). Conclusions:The automatic radiolabelling of 18F-exendin-4 is successfully realized by All in one multifunctional chemical synthesizer. 18F-exendin-4 has been proved to be of clinical value in diagnosis of insulinoma, and is suitable for promotion in medical institutions equipped with medical cyclotrons.

Postsurgical hypoparathyroidism is a common cause of hypoparathyroidism, with a variety of clinical manifestations. It is life-threatening in acute and severe cases, and may lead to poor quality of life in chronic patients. It is imperative to consistently enhance the identification and governance of such circumstance. Focusing on the pathophysiological changes, clinical and biochemical features, acute and chronic treatments of postsurgical hypoparathyroidism, a consensus was developed by domestic experts from surgery, endocrinology and nephrology.

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.

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.