2026年 · 第139卷第08期

Cancer development is a complex, multistep process fundamentally driven by diverse factors that ultimately arise from somatic genetic alterations. Copy number variations (CNVs) are defined as the gains or losses of large genomic segments exceeding 50 base pairs that arise from structural rearrangements of the genome.^[1]CNVs significantly influence disease recurrence and patient outcomes, particularly overall survival and progression-free survival. For example, detecting CNVs uncovers actionable genomic alterations that predict therapeutic response, thus facilitating the selection of optimal treatment strategies.

To the Editor: The retina is one of the most oxygen-consuming tissues in the human body and is particularly sensitive to hypoxia. Hypoxia can result in an imbalance in the expression of vascular growth factors, cytokines, chemokines, and other cell mediators, which may cause leakage of vascular blood and neovascularization, eventually leading to blindness or severe visual impairment. Hypoxia is a pathological risk factor associated with various retinal/choroidal vascular diseases, such as diabetic retinopathy (DR), retinal vein occlusion (RVO), retinopathy of prematurity (ROP), and wet age-related macular degeneration (AMD), which affect people of all ages, including children, working adults, and elderly individuals.

To the Editor: From 1990 to 2021, the disease burden of pregnant women in China has changed significantly. China is facing challenges in addressing the complex factors affecting the well-being of pregnant women. Socioeconomic disparities, regional variations in healthcare infrastructure, and gaps in the quality of care remain significant barriers to achieving optimal health outcomes for vulnerable populations.^[1,2]Economic development has brought new health challenges, highlighting the need to update data in China to improve health equity. Based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021, our study assesses the maternal disease burden in 2021 and updates national trends from 1990 to 2021. The trend of disease burden indicators was analyzed by the annual percent change (APC), average annual percent change (AAPC), and estimated annual percentage change (EAPC); the trend of disease burden indicators after 2021 was predicted in the Bayesian age-period-cohort analysis. Our study helps to identify gaps in maternal disorders across Chinese provinces and guides the creation of targeted measures, which is crucial for developing effective public health services for maternal health in China.

To the Editor: Kawasaki disease (KD) is the most common systemic vasculitis in childhood. Coronary artery complications of KD have become a significant cause of acquired heart disease in children.^[1,2]Despite the reduction in the overall occurrence rate of coronary artery aneurysms (CAA) due to the administration of intravenous immunoglobulin, the development of giant coronary artery aneurysms (GCAA) is still one of the most severe long-term sequelae of KD, profoundly increasing the risk of myocardial ischemia, myocardial infarction, and sudden death.^[3]Current management strategies for coronary lesions in KD, especially in children who are refractory to medical therapy or develop complex GCAA, are controversial. Given that coronary artery bypass grafting (CABG) is an important revascularization technique, its timing, indications, and long-term outcomes, especially the practical experience and results across different populations, require further elucidation.

To the Editor: Lipoprotein glomerulopathy (LPG) is a rare renal disorder characterized by lipoprotein thrombi in the glomerular capillaries. Clinically, it presents with proteinuria and frequently progresses to progressive renal insufficiency.^[1]Although identified in various populations worldwide, LPG is predominantly reported in Japan and China. Etiologically, the disease is primarily associated with variants in the apolipoprotein E (APOE) gene.^[2]Variants in theAPOEgene disrupt its normal function, accumulating pathological lipid deposits in glomeruli. SeveralAPOEvariants are linked to LPG, including the Tokyo-Maebashi (p.L162_K164del) and Kyoto (p.R43C).^[2]These variants exhibit distinct geographical distributions and founder effects, suggesting that genetic drift and population-specific factors may influence the prevalence and clinical presentation.^[3,4]

To the Editor: Small for gestational age (SGA) is generally defined as birth weight at least 2 standard deviations below the mean or below the 10th percentile for gestational age. SGA children face an increased risk of later-life disease, particularly neurological complications, and have higher rates of cognitive, socioemotional, and behavioral difficulties than those born appropriate for gestational age (AGA). The long-term cognitive implications of SGA, such as lower intelligence quotient (IQ) and academic underachievement, are well documented, but mental disorders related to SGA have been less systematically described. Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are prevalent neurodevelopmental conditions with substantial long-term impact on quality of life.^[1]Moreover, children with ASD and ADHD are at increased risk for depression and anxiety, which can have long-term consequences for mental and physical health.^[2]Whether SGA is associated with ASD, ADHD, anxiety, and depression remains controversial. Some studies suggest increased risks of ASD, depression, and behavioral problems in SGA, whereas others report no clear association. Earlier meta-analyses of SGA in relation to ASD or depression were based on relatively small samples and rarely distinguished preterm from full-term SGA. Preterm birth (<37 weeks), especially extremely preterm (≤28 weeks), is itself a strong risk factor for mental health disorders. To address these gaps, we conducted a systematic review and meta-analysis to evaluate the association between SGA and ASD, ADHD, depression, and anxiety, with subgroup analyses by gestational age. We initially considered a broader range of psychopathology, but due to very small numbers of other psychiatric diagnoses among SGA individuals, only anxiety and depression were retained as additional psychiatric outcomes.

To the Editor: Multiple system atrophy (MSA) is a rare neurodegenerative disease with relentless progression and poor prognosis.^[1]Cognitive impairment is an underrecognized field in MSA. Its profiles remain poorly characterized, and its predictors have not been clearly understood. Herein, we aim to characterize MSA-specific patterns of cognitive dysfunction, elucidate their subtypes and detailed characteristics, and ascertain sensitive neuropsychological tests. Furthermore, we assessed the potential utility of clinical assessments, brain volumes, and plasma markers in predicting the cognitive status of MSA. Our research is expected to provide a more accurate and comprehensive understanding of cognitive impairment in MSA.

To the Editor: Bile duct injury (BDI) greatly impacts prognosis after liver transplantation (LT).^[1]Cell therapies, including cholangiocyte organoids and human placental mesenchymal stem cells, have been reported for the regeneration and repair of different types of BDIs in preclinical animal models. Human amniotic epithelial stem cells (hAESCs) are a type of stem cell derived from the amniotic membrane of the placenta that possess embryonic stem cell-like proliferation and differentiation capabilities, can successfully modulate the regional immune environment and improve the situation in rat models of intrauterine adhesions and autoimmunity.^[2]However, whether the transplantation of hAESCs can reduce BDIsin vivohas not been investigated. The present study was designed to investigate the therapeutic potential of hAESCs for intrahepatic BDIs and explore the underlying mechanisms involved. Detailed descriptions of the data and statistical methods are included in the Supplementary Materials, http://links.lww.com/CM9/C382.

To the Editor: Acute generalized exanthematous pustulosis (AGEP) and generalized pustular psoriasis (GPP) both present with widespread sterile pustules, sometimes forming large pustular lakes, and share overlapping clinical and histological features.^[1,2]However, they differ significantly in cause and prevalence. AGEP is a rare, severe drug-induced reaction mediated by T cells, affecting 1-5 people per million. In contrast, GPP is a rare but potentially life-threatening form of psoriasis, observed in about 14 individuals per million. Approximately 50% of GPP patients have pre-existing psoriasis vulgaris (PsV), and many endure delayed diagnosis due to clinical similarity, leading to prolonged symptoms and impaired quality of life. Although genetic analyses reveal minimal molecular distinctions between these entities (PDK4andZBTB16),^[3]their distinct triggers and disease courses make accurate diagnosis essential for proper treatment.

To the Editor: Thyroid carcinoma (TC) is one of the cancers with the fastest-growing morbidity globally. Studies have found that gender, genetics, selenium, and an unfavorable lifestyle are all associated with the risk of TC. However, whether vitamin D (VD) deficiency is associated with TC or not remains unclear.

We read the recent article conducted by Linet al^[1]titled "The interval of rescue treatment does not affect the efficacy and safety ofHelicobacter pylorieradication" with great interest. This prospective multicenter study demonstrated that the interval between failed eradication and rescue therapy did not significantly influence eradication rates or safety when 14-day bismuth quadruple therapy was used. These findings challenge conflicting earlier reports^[2]and support prompt retreatment without delaying "resetting" bacterial susceptibility. This study included a rigorous design, a large sample size, and the use of low-resistance antibiotics, which likely mitigated resistance-driven failures. Notably, even short intervals (≥4 weeks) achieved comparable efficacy, in contrast to retrospective data that favor delayed therapy.