Hereditary hypophosphatemic rickets/osteomalacia encompasses a group of disorders characterized by impaired bone mineralization resulting from phosphate deficiency, which can lead to skeletal deformities and growth retardation when onset occurs in early childhood. A patient with autosomal recessive hypophosphatemic rickets type 1 (ARHR1) caused by a mutation in the dentin matrix protein 1 (DMP1) gene was admitted to the Department of Endocrinology at the First Medical Center of Chinese PLA General Hospital in December 2024. The patient presented with frontal bossing, short stature, lower limb deformities, and generalized bone pain. Laboratory evaluation revealed hypophosphatemia, hyperphosphaturia, a decreased phosphate clearance index, elevated serum alkaline phosphatase, increased fibroblast growth factor 23, slightly reduced 25-hydroxyvitamin D, and normal serum calcium and parathyroid hormone levels. Genetic testing confirmed the presence of a homozygous mutation in the DMP1 gene. Literature retrieval indicated that more than 10 distinct mutations in this gene have been reported in approximately 30 patients worldwide. Most of these documented mutations are located within exon 6, likely because this region harbors up to 80% of the total coding sequence. However, whole-exome sequencing identified a novel homozygous variant c.457C>T (p.Gln153*) in exon 3 in this patient, as confirmed by database and literature review. ARHR1 remains an extremely rare disease, and hereditary genetic testing plays a vital role in establishing a definitive diagnosis. 遗传性低磷性佝偻病/骨软化症是一类磷酸盐缺乏引起的骨矿化障碍有关的疾病，在儿童早期发病可导致骨骼畸形和生长迟缓。本文报道解放军总医院第一医学中心内分泌科2024年12月收治的1例牙基质蛋白1（DMP1）基因突变导致的常染色体隐性低磷性佝偻病1型（ARHR1）病例。该患者主要表现为前额突出、身材矮小、下肢畸形及全身骨痛等，实验室检查提示低血磷、高尿磷、磷廓清指数下降、血碱性磷酸酶升高、成纤维生长因子23升高、25-羟维生素D轻度降低、血钙和甲状旁腺素正常，基因检测证实DMP1基因纯合突变。经文献检索，全世界总共约30例患者中报道了DMP1的10余个不同的突变，由于DMP1基因外显子6携带了最多的编码信息（80%），目前报道的DMP1的突变位点大多数位于6号外显子区域，但本例患者通过全外显子检测发现外显子3区域纯合突变：c.457C>T（p.Gln153*），经检索为新发突变。ARHR1发病率极低，遗传性基因检测对于该病诊断具有非常重要的意义。.
Domestic and international guidelines focusing on ASCVD risk stratification and precision treatment of dyslipidemia emphasize the formulation of individualized LDL-C targets based on risk stratification. However, in current clinical practice in China, most lipid profile testing reports adopt a single presentation format, with the indicated reference ranges only applicable to the general healthy population, which fails to meet the needs of stratified treatment for patients with varying risk levels.To promote the precise diagnosis and assessment of dyslipidemia, and improve the treatment rate and long-term compliance rate of dyslipidemia, the Expert Group of Expert guidance and consensus for standardization of lipid profile testing report in China has organized multidisciplinary experts to formulate and issue Expert guidance and consensus for standardization of lipid profile testing report in China. This document provides guidance for the clinical reform of lipid profile testing reports. Through the reform and standardization of lipid profile testing reports, it aims to raise the awareness and attention of cardiologists, non-cardiovascular specialists, and patients with dyslipidemia, improve the awareness and diagnosis rates of dyslipidemia among different populations, and facilitate the implementation of individualized risk assessment and precision treatment regimens. It will also help establish a more scientific and efficient system for lipid management, enhance the efficiency of medical resource utilization, reduce the risk of CVD and the associated burden on medical insurance expenditures, and yield greater public health and economic benefits. 国内外指南聚焦动脉粥样硬化性心血管疾病危险分层与血脂异常精准治疗，强调依据危险分层制定低密度脂蛋白胆固醇的个体化目标值。然而目前我国临床上大部分血脂检验结果报告呈现形式单一，标注的参考值范围只适用于健康成年人，尚不能适应不同危险程度患者的分层治疗需求。为促进血脂异常的精准诊断和评估，提升血脂异常的治疗率和长期达标率，血脂报告单规范化中国专家指导建议专家组制定和发布《血脂报告单规范化中国专家指导建议》，指导血脂报告单的临床改革，并通过改革和规范血脂报告单，提升心血管、非心血管专科医生以及血脂异常患者的认知和重视程度，提高不同人群的血脂异常知晓率和诊断率，推动个体化风险评估和精准化治疗方案的实施，助力构建更加科学、高效的血脂管理体系，提升医疗资源使用效率，降低心血管病风险及相关的医保支出负担，带来更好的公共卫生及经济学获益。.
Objective: To explore the clinical characteristics and prognosis of acute erythroid leukemia (AEL). Methods: A retrospective case series study was conducted. Clinical data from 23 patients with AEL admitted to the Department of Hematology at the First Affiliated Hospital of Nanjing Medical University from January 2015 to May 2025 were collected. Laboratory features and prognostic outcomes were summarized. Overall survival (OS) was analyzed using the Kaplan-Meier method, and log-rank test was used for comparisons between groups. Results: Among the 23 patients with AEL, 13 were male (56.5%) and 10 were female (43.5%), with a median age of 62 years (range: 13-80 years). Of these patients, 10 (43.5%) had primary AEL, 5 (21.7%) had treatment-related AEL, and 8 (34.8%) had AEL secondary to other myeloid diseases. Among the secondary AEL cases, 5 were associated with myelodysplastic syndrome, 2 with chronic myeloid leukemia, and 1 with aplastic anemia. Regarding TP53 abnormalities, 38.1% (8/21) of patients had TP53 deletions, and among the 16 patients who underwent next-generation sequencing, all had TP53 mutations. The most frequent TP53 mutation sites were R248Q/W/L/P (3/16), H193R/D/L (2/16), and C242 frameshift mutations (2/16). The median OS was 1.23 months (range: 0.27-13.53 months). The median OS was 1.00 month (95%CI 0.77-1.23) in patients with TP53 mutation frequency >40% (n=8), compared with 3.07 months (95%CI 0-6.81) in those with TP53 mutation frequency ≤40% (n=8). The difference in OS between the two groups was statistically significant (χ2=7.65, P=0.006). There was no statistically significant difference in OS between patients receiving intensive chemotherapy and those receiving low-intensity chemotherapy (P=0.161). The median OS was 2.20 months (95%CI 1.06-3.34) in the primary group, 7.20 months (95%CI 0-20.01) in the treatment-related group, and 0.93 months (95%CI 0.66-1.21) in the secondary group. Survival differed significantly among the three etiological groups (χ2=11.53, P=0.003). Conclusion: AEL is a subtype of acute myeloid leukemia with extremely poor prognosis that is highly associated with TP53 gene abnormalities. 目的： 探讨急性红系白血病（AEL）的临床特征及预后。 方法： 回顾性病例系列研究。收集2015年1月至2025年5月南京医科大学第一附属医院血液科收治的23例AEL患者的临床资料，对实验室检查特征及预后等进行总结。采用Kaplan-Meier法分析总生存（OS）期，组间比较采用log-rank检验。 结果： 23例AEL患者中，男性13例（56.5%），女性10例（43.5%），中位年龄62岁（范围13~80岁）。23例AEL患者中10例（43.5%）为原发性，5例（21.7%）为治疗相关，8例（34.8%）继发于其他髓系疾病。继发性AEL中，继发于骨髓增生异常综合征5例，慢性粒细胞白血病2例，再生障碍性贫血1例。38.1%（8/21）患者存在TP53基因缺失，16例行二代测序的患者全部检测到TP53基因突变。高频出现的TP53基因突变位点是R248Q/W/L/P（3/16）、H193R/D/L（2/16）和C242fs（2/16）。23例AEL患者中位OS期为1.23个月（范围0.27~13.53个月）。8例TP53基因突变频率>40%患者的中位OS期（95%CI）［1.00（0.77~1.23）个月］短于TP53基因突变频率≤40%患者［8例，3.07（0~6.81）个月］，差异有统计学意义（χ2=7.65，P=0.006）。强化疗与低强度化疗间OS期差异无统计学意义（P=0.161）。原发性、治疗相关、继发性AEL中位OS期（95%CI）分别为2.20（1.06~3.34）、7.20（0~20.01）、0.93（0.66~1.21）个月，不同病因间OS期差异有统计学意义（χ2=11.53，P=0.003）。 结论： AEL是一类与TP53基因异常高度相关的预后极差的急性髓系白血病亚型。.
Objective: To investigate the relationship between alterations in dynamic regional homogeneity (dReHo) and spatial navigation impairment in individuals with subjective cognitive decline (SCD) who exhibit a biased Traditional Chinese Medicine (TCM) constitution. Methods: A total of 63 participants with SCD were recruited from the Affiliated Drum Tower Hospital of Nanjing University Medical School between January 2024 and January 2026. The cohort comprised 30 individuals with a balanced constitution (mean age: 68±7 years; 17 males, 13 females) and 33 with a biased constitution (mean age: 68±6 years; 12 males, 21 females). All participants were assessed for spatial navigation ability, TCM constitution, and neuropsychological status. Resting-state functional magnetic resonance imaging (rs-fMRI) data were acquired during the same period. The rs-fMRI time series was segmented using a sliding time window approach, and dReHo was subsequently calculated. Statistical analyses were performed using SPSS 23.0. Intergroup differences in dReHo variability were compared. Correlation analyses were performed between the dReHo values extracted from brain regions showing significant differences and both cognitive scale scores and spatial navigation behavioral metrics. Finally, logistic regression and receiver operating characteristic (ROC) curve analyses were conducted to evaluate the predictive value of spatial navigation behaviors, dReHo variability, and cognitive scales for distinguishing between balanced and biased TCM constitutions among participants with SCD. Results: Compared to SCD individuals with a balanced constitution, those with a biased constitution exhibited significantly lower scores on the MMSE (U=2.10, P=0.036), the Auditory Verbal Learning Test (AVLT) long-delayed recall (U=2.23, P=0.026), cued recall (U=2.08, P=0.037), and recognition (t=2.51, P=0.015). Conversely, the biased constitution group demonstrated significantly higher average error distances in egocentric- allocentric navigation (U=-2.24, P=0.025), egocentric navigation (U=-2.02, P=0.043), and delayed navigation (U=-2.16, P=0.031). Neuroimaging analysis revealed that individuals with a biased constitution displayed significantly increased dReHo variability in the right angular gyrus and bilateral supplementary motor areas (t=4.51, 3.05, respectively; all P<0.05, GRF-corrected). dReHo variability in these regions correlated positively with the average error distance in delayed spatial navigation (r=0.261, P=0.039 and r=0.286, P=0.023, respectively). Additionally, dReHo variability in the bilateral supplementary motor areas showed significant positive correlations with episodic memory and language function (r=0.271, P=0.032 and r=0.277, P=0.028, respectively), alongside a significant negative correlation with executive function (r=-0.259, P=0.040). A comprehensive prediction model integrating spatial navigation metrics, cognitive assessment scales, and dReHo variability demonstrated significant discriminative performance in distinguishing between biased and balanced TCM constitutions among individuals with SCD, yielding an area under the curve (AUC) of 0.875. Conclusion: Increased dReHo variability in the right angular gyrus and bilateral supplementary motor areas represents a potential neural mechanism underlying cognitive decline and spatial navigation deficits in individuals with SCD who display a biased constitution. Furthermore, the developed comprehensive model incorporating spatial navigation behaviors and dReHo variability exhibits high predictive efficacy in differentiating between balanced and biased TCM constitutions within this population. 目的： 探究偏颇质主观认知下降（SCD）人群动态局部一致性（dReho）改变与空间导航障碍之间的关系。 方法： 选取南京大学医学院附属鼓楼医院2024年1月至2026年1月就诊的63名SCD被试，其中平和质30名［平均年龄（68±7）岁，男17名、女13名］，偏颇质33名［平均年龄（68±6）岁，男12名、女21名］，所有被试均完成导航能力测试、中医体质测评和神经心理学量表评价，并进行功能磁共振成像（fMRI）扫描；采用滑动时间窗方法分割rs-fMRI的时间序列，然后计算动态局部一致性（dReho）。使用SPSS 23.0进行统计分析，比较两组间dReho变异性的差异，并提取差异值与认知量表评分、空间导航行为学评分进行相关性分析，采用logistic回归以及受试者工作特征（ROC）曲线来评估空间导航行为学、dReho变异性与认知量表对SCD平和质与偏颇质的预测价值。 结果： 偏颇质SCD被试的简明精神状态检查评分（U=2.10，P=0.036）及听觉言语学习测试长时延迟回忆（U=2.23，P=0.026）、线索回忆（U=2.08，P=0.037）及再认（t=2.51，P=0.015）显著低于平和质被试，自我-环境参照导航平均误差距离（U=-2.24，P=0.025）、自我参照导航平均误差距离（U=-2.02，P=0.043）、延迟参照导航平均误差距离（U=-2.16，P=0.031）显著高于平和质被试。偏颇质SCD被试的右侧角回与双侧补充运动区dReho变异性显著高于平和质被试（t=4.51、3.05；均P<0.05，GRF校正）。偏颇质SCD人群右侧角回及双侧补充运动区的dReho变异性与延迟导航平均误差距离显著正相关（r=0.261、0.286；P=0.039、0.023）；双侧补充运动区的dReho变异性与情景记忆功能和语言功能显著正相关（r=0.271、0.277；P=0.032、0.028），与执行功能显著负相关（r=-0.259，P=0.040）。基于空间导航行为学指标、认知评估量表及dReho变异性的综合预测模型对SCD偏颇与平和体质的区分效能显著，其曲线下面积达0.875。 结论： 右侧角回及双侧补充运动区dReho变异性增加可能是偏颇质SCD人群认知减退、空间导航能力障碍的潜在神经机制；基于空间导航行为指标及dReho变异性构建的综合模型对平和质和偏颇质SCD人群具有较高的预测效能。.
Objective: To evaluate the applicability of a pathophysiology-based obesity phenotyping approach in Chinese patients with obesity and characterize the clinical features of different obesity phenotypes. Methods: In this cross-sectional study, patients with obesity (body mass index ≥28 kg/m2) were recruited from the obesity and weight management clinic of Peking University People's Hospital between December 2023 and November 2024. Data were collected regarding demographics, body composition, hunger perception [Visual Analogue Scale (VAS)], depressive status (Hospital Anxiety and Depression Scale), basal metabolic rate, and metabolic parameters. Using pre-established cut-off values derived from previous studies, participants were categorized into brain hunger, gastrointestinal hunger, emotional hunger, hypometabolic, or untyped phenotypes. The Kruskal-Wallis H test and other methods were used for comparisons among multiple groups, and the Bonferroni correction applied for multiple comparisons. Results: Among the 900 patients [mean age (34.9±8.3) years; 61.3% female, 552/900], the brain hunger phenotype (22.1%, 199/900) exhibited the highest 30-min VAS score [M (Q1, Q3), 33 (21, 43)], significantly exceeding that of the gastrointestinal hunger phenotype [19 (0, 30), all P<0.05]. The gastrointestinal hunger phenotype (43.9%, 395/900) demonstrated a significantly higher 2-hour VAS score [41 (30, 60)] than either the emotional hunger [20 (0, 41)] or hypometabolic [20 (0, 40)] phenotype (both P<0.05). The emotional hunger phenotype (34.1%, 307/900) had the highest depression score [8 (7, 9)], significantly exceeding those of the brain hunger [4 (2, 7)] and gastrointestinal hunger [4 (2, 7)] groups; its fasting C-peptide level [1.21 (0.95, 1.52) nmol/L] was significantly higher than those of the brain hunger [1.11 (0.84, 1.38) nmol/L] and gastrointestinal hunger [1.11 (0.85, 1.48) nmol/L] groups (all P<0.05). The hypometabolic phenotype (54.2%, 488/900) exhibited the lowest ratio of measured basal metabolic rate to predicted basal energy expenditure [82% (80%, 84%)], which was significantly lower than that of the brain hunger phenotype [86% (82%, 89%); all P<0.05]. This phenotype had the highest body mass index [34.22 (31.50, 37.38) kg/m2], which was significantly higher than that of the brain hunger phenotype [32.21 (30.20, 35.37) kg/m2; all P<0.05]. Furthermore, uric acid levels in the hypometabolic group [431 (370, 496) μmol/L] were significantly higher than those in the gastrointestinal hunger [405 (343, 473) μmol/L] and emotional hunger [413 (353, 476) μmol/L] phenotypes (both P<0.05); this group also had the highest body fat percentage [44.5% (39.3%, 48.5%)] and visceral fat level [20 (18, 20)] among all phenotypes (all P<0.05). Additionally, 16.3% (147/900) of patients remained untyped, while 49.0% (441/900) presented with multiple phenotypes. Conclusions: The pathophysiology-based phenotyping approach can identify subtypes with different clinical characteristics among Chinese patients with obesity. Each phenotype exhibits distinct characteristics in hunger regulation, emotional status, energy metabolism, and body composition. 目的： 验证基于病理生理机制的肥胖表型分型方法在中国肥胖患者中的适用性，分析不同肥胖表型的临床特征。 方法： 采用横断面研究设计，纳入2023年12月至2024年11月就诊于北京大学人民医院肥胖与减重门诊、拟使用胰高糖素样肽1受体激动剂治疗的肥胖症患者（体重指数≥28 kg/m²）。收集人口统计学、体脂成分、饥饿感知（视觉模拟评分）、抑郁状态（医院焦虑抑郁量表）、基础代谢率及代谢指标，依据前期研究制定的分型界值将患者划分为脑饥饿型、胃肠饥饿型、情绪饥饿型、低代谢型及未分型，并比较各表型的临床特征。采用Kruskal-Wallis H检验等进行多组间比较，Bonferroni法等进行多重检验校正。 结果： 共纳入900例患者，年龄（34.9±8.3）岁，女性占比为61.3%（552/900）。其中脑饥饿型（22.1%，199/900）餐后30 min饥饿评分［M（Q1，Q3）］最高，为33（21，43）分，显著高于胃肠饥饿型的19（0，30）分（均P<0.05）。胃肠饥饿型（43.9%，395/900）餐后2 h饥饿评分为41（30，60）分，显著高于情绪饥饿型的20（0，41）分及低代谢型的20（0，40）分（均P<0.05）。情绪饥饿型（34.1%，307/900）抑郁评分最高，为8（7，9）分，显著高于脑饥饿型的4（2，7）分和胃肠饥饿型的4（2，7）分；空腹C肽为1.21（0.95，1.52）nmol/L，显著高于脑饥饿型的1.11（0.84，1.38）nmol/L和胃肠饥饿型的1.11（0.85，1.48）nmol/L（均P<0.05）。低代谢型（54.2%，488/900）实际基础代谢率占预计值的百分比最低，为82%（80%，84%），显著低于脑饥饿型的86%（82%，89%）；体重指数最高，为34.22（31.50，37.38）kg/m2，显著高于脑饥饿型的32.21（30.20，35.37）kg/m2；尿酸水平为431（370，496）μmol/L，显著高于胃肠饥饿型的405（343，473）μmol/L和情绪饥饿型的413（353，476）μmol/L；体脂率44.5%（39.3%，48.5%）和内脏脂肪等级20（18，20）亦最高（均P<0.05）。此外，16.3%（147/900）为未分型，49.0%（441/900）为多重表型。 结论： 基于病理生理机制的肥胖表型分型方法可在中国肥胖患者中识别出具有不同临床特征的亚型，各表型在饥饿调控、情绪状态、能量代谢和体脂分布等方面特征鲜明。.
卒中作为全球致死致残的主要病因之一，疾病负担日益加剧。焦虑不仅是卒中后常见的并发症，影响患者康复进程和生活质量，更是卒中发生的潜在危险因素。传统“卒中后焦虑”的概念存在局限性，可能导致诊断和治疗的延误。为此，我们提出“卒中伴焦虑”的新概念，将焦虑视为卒中的伴随症状，而非独立疾病。我们进一步建议确立以神经科医师作为诊疗主体，倡导将焦虑管理纳入卒中全程防控体系。该概念旨在降低卒中的次生伤害并改善患者的神经功能预后，指导神经科医师优化以卒中为核心的临床诊疗实践。.
《国家基层糖尿病防治管理指南（2025）》在2022版基础上，基于卫生行政部门的管理要求和新近发布的相关领域研究证据，主要在糖尿病的管理要求、筛查、诊断、血糖检测、治疗、健康管理等方面上进行了更新。此外，首次增加了健康教育章节，为基层医务人员提供更全面的指导。.
运动训练是心脏康复计划的核心组成部分，也是心血管疾病二级预防的关键要素。尽管运动处方中的核心组成部分已经明确，包括频率、强度、时间和类型；然而，运动量的具体目标并不明晰。美国心肺康复协会（AACVPR）于2025年5月在《心肺康复与预防杂志》发表了《有氧运动量对心脏康复效果的优化策略》科学声明，该声明明确了心脏康复运动处方中的有氧运动量的具体目标，并首次确立以运动量为核心靶点的精准处方模式。本文根据该声明中的核心内容进行详细解读，期望对临床康复策略制定和应用提供可靠支持。.
Helicobacter pylori infection remains a significant public health concern in China. Effective prevention and control require a coordinated "three-in-one" approach encompassing standardized expert recommendations, consistent physician implementation, and active patient participation. However, comprehensive, systematic, and scientifically robust clinical practice guidelines for Helicobacter pylori infection to support clinical decision-making have been lacking. This guideline adopts a "from practice to practice" development framework, systematically identifying key clinical questions through extensive investigation and adhering to rigorous methodological standards to formulate practical, evidence-based recommendations. The multidisciplinary expert panel, incorporating perspectives from front-line clinicians, ensures that recommendations address real-world considerations, including resource availability, operational feasibility, and social ethics of healthcare. The development of this guideline directly addresses the critical bottleneck of the disconnect between consensus guidelines and clinical practice in current treatment and prevention efforts. While upholding the rigorous evidence-based medicine principle, it innovatively integrates with clinical practice needs, transforming complex bodies of professional evidence into clear, concise, and actionable key points. This guideline includes 45 key clinical topics and aims to serve as a bridge between professional medical evidence and healthcare practice, promote standardized, uniform clinical services, and enhance the overall prevention and control of Helicobacter pylori infection in China. 幽门螺杆菌感染是我国重要的卫生健康问题，只有实现专家规范、医生执行、感染者参与“三位一体”，才能真正将防控工作落到实处。目前，尚缺乏指导广大医生日常工作、全面系统、科学规范的幽门螺杆菌感染临床实践指南。本指南确立了“从实践中来，到实践中去”的核心制定逻辑，通过系统调研确定目标问题，严格遵循循证医学规范和要求，建立标准化、可操作的解决方案和推荐意见。多学科专家组构成和对临床医生广泛吸纳，确保了在证据解读、推荐意见形成以及适用性权衡时，能够充分考虑基层医疗条件、操作可行性以及社会伦理等多维因素。本指南直面当前基层防控工作中共识指南与临床实践脱节这一关键瓶颈问题，创新性地与临床实际需求深度融合，将专业复杂的证据体转化为清晰简明的行动要点。本指南包含了广大临床医生最感兴趣的45个问题，旨在推动诊疗服务的规范化与同质化，提高我国幽门螺杆菌感染诊断、治疗和预防水平。.
A retrospective analysis was conducted on nine patients with active duodenal diverticular bleeding for whom initial gastroscopic hemostasis had failed between 2016 and 2024. All patients subsequently underwent duodenoscopic hemostatic interventions. Primary outcomes were the technical success rate and complication rate. Secondary outcomes comprised the endoscopic hemostatic techniques employed, anesthesia type, changes in hemoglobin levels, and the need for salvage arterial embolization or surgery. The technical success rate for duodenoscopic hemostasis was 8/9. The hemostatic modalities applied under duodenoscopy included clip application, electrocoagulation combined with clip placement, argon plasma coagulation, hemostatic powder spray, epinephrine injection combined with clipping, and epinephrine injection combined with electrocoagulation and clip placement. Three patients underwent the procedure under intravenous general anesthesia, while six were managed under conscious sedation. One patient experienced persistent hematemesis and melena after hemostatic powder spray application, representing a treatment failure; the following day, the patient underwent successful interventional radiology-guided embolization. No procedure-related complications occurred in the successfully treated cases. Postoperative hemoglobin levels stabilized in all eight patients who achieved technically successful hemostasis. Duodenoscopic hemostasis represents a safe and effective therapeutic approach for patients with active duodenal diverticular hemorrhage for whom initial gastroscopic hemostasis has failed. 回顾性纳入2016年至2024年间首都医科大学附属北京友谊医院9例因十二指肠降部憩室活动性出血且胃镜下止血失败的患者。所有患者在胃镜止血未成功后续接受十二指肠镜下止血治疗。主要观察指标为技术成功率与并发症发生率；次要观察指标包括内镜下止血方式、麻醉类型、血红蛋白水平变化，以及后续是否需要动脉栓塞或外科手术干预。十二指肠镜止血技术成功率为8/9。使用内镜止血方式包括组织夹夹闭、电凝联合组织夹、氩离子血浆凝固术、止血粉喷洒、肾上腺素注射联合组织夹，以及肾上腺素注射联合电凝与组织夹。3例患者采用静脉全身麻醉，6例在镇静监护下完成操作。1例患者在止血粉喷洒后仍持续出血，视为治疗失败，于次日经介入手术成功补救。所有成功止血患者均未发生操作相关并发症，且术后血红蛋白水平趋于稳定。对于胃镜下止血未成功的十二指肠降部憩室活动性出血，十二指肠镜下止血是一种安全且有效的治疗方式。.
Objective: To investigate the impact of adding an early proactive telephone follow-up (2-4 weeks post-ablation) to routine follow-up on perioperative medication adherence, incidence of clinical outcome events, and re-consultation in patients with atrial fibrillation undergoing catheter ablation. Methods: This study employed a prospective cohort design. The intervention group included 554 patients who underwent catheter ablation for atrial fibrillation at our hospital in January 2025, receiving an additional telephone follow-up within 2-4 weeks post-ablation. The control group included 910 patients who underwent catheter ablation at our hospital in February 2025, receiving only routine first outpatient follow-up at 3 months post-ablation. The telephone follow-up content included verifying comprehension of medical orders, guiding medication administration, answering questions, assessing postoperative recovery, identifying abnormal symptoms, providing medical advice, and offering psychological support. The primary outcome measure was medication adherence at 3 months post-ablation. Secondary outcome measures included the incidence of thromboembolic events, bleeding events, and re-consultation within 3 months post-ablation. All data were statistically analyzed using SPSS 26.0; P-values<0.05 indicated statistical significance. Results: Baseline characteristics were comparable between the two groups (all P-values>0.05). Regarding medication adherence at 3 months post-ablation, the proportion of patients regularly taking anticoagulants in the intervention group (56.50%) was significantly higher than that in the control group (44.07%) (χ2=21.30, P<0.001); the proportion of patients who self-discontinued medication in the intervention group (27.26%) was significantly lower than that in the control group (41.87%) (χ2=31.78, P<0.001). For the incidence of thromboembolic and bleeding events, no statistically significant differences were observed between the two groups (all P-values>0.05). Specifically, the incidence of thromboembolic events was 1.08% (n=6) in the intervention group and 1.65% (n=15) in the control group (χ2=0.77, P=0.379); the incidence of bleeding events was 0.18% (n=1) and 0.22% (n=2), respectively (χ2=0.19, P=0.664). The overall incidence of any thromboembolic or bleeding event was 1.26% (n=7) and 1.76% (n=16), respectively, and this difference was not statistically significant (χ2=0.54, P=0.460). Regarding re-consultation, the incidence of outpatient visits due to cardiovascular disease was significantly lower in the intervention group (2.53%, n=14) than in the control group (6.81%, n=62) (χ2=12.84, P<0.001). No statistically significant differences were observed between the two groups for emergency visits due to cardiovascular disease (χ2<0.01,P=0.975), hospitalization due to cardiovascular disease (χ2<0.01,P=0.985), or re-consultation/hospitalization for any reason (χ2=0.95, P=0.329). Conclusion: Early proactive telephone follow-up can significantly improve perioperative medication adherence in patients with atrial fibrillation undergoing catheter ablation and effectively reduce postoperative outpatient visits. This simple and feasible intervention has positive clinical application value for improving short-term patient outcomes and optimizing medical resource allocation. 目的： 探讨在常规随访基础上，对择期手术房颤患者在术后早期（2~4周）增加1次主动电话随访，对其围术期药物依从性、临床结局事件发生率及再就诊情况的影响。 方法： 本研究采用前瞻性队列研究设计。纳入2025年1月在北京安贞医院接受房颤择期手术的554例患者作为干预组，在术后2~4周内接受1次额外的电话随访；纳入2025年2月在北京安贞医院接受择期手术的910例患者作为对照组，仅接受常规的术后3个月首次门诊随访。电话随访内容包括核实医嘱理解、指导药物服用、解答疑问、评估术后恢复情况、识别异常症状并提供就医指导、进行心理支持等。主要结局指标为术后3个月药物依从性，次要结局指标包括术后3个月内血栓栓塞事件、出血事件及再就诊情况。所有数据采用SPSS 26.0进行统计分析，以P<0.05为差异有统计学意义。 结果： 两组患者基线资料均衡可比（均P>0.05）。在术后3个月药物依从性方面，干预组仍规律服用抗凝药物的患者比例显著高于对照组（56.50%比44.07%，χ2=21.30，P<0.001）；干预组自行停药比例显著低于对照组（27.26%比41.87%，χ2=31.78，P<0.001）。在血栓栓塞和出血事件发生率方面，两组间差异均无统计学意义（均P>0.05），其中血栓栓塞事件发生率在干预组为1.08%（6例），对照组为1.65%（15例）（χ2=0.77，P=0.379）；出血事件干预组为0.18%（1例），对照组为0.22%（2例）（χ2=0.19，P=0.664）；任意血栓栓塞或出血事件的发生率在干预组为1.26%（7例），对照组为1.76%（16例），差异均无统计学意义（χ2=0.54，P=0.460）。在再就诊情况方面，因心血管疾病门诊就诊的发生率中，干预组（2.53%，14例）显著低于对照组（6.81%，62例）（χ2=12.84，P<0.001），因心血管疾病急诊就诊（χ2<0.01，P=0.975）、因心血管疾病住院（χ2<0.01，P=0.985）以及任意原因再就诊/住院（χ2=0.95，P=0.329），两组间差异均无统计学意义。 结论： 早期主动电话随访能够显著提高择期手术房颤患者的围术期药物依从性，并减少心血管相关门诊就诊次数。这一简便易行的干预措施，对改善患者短期结局、优化医疗资源配置具有积极的临床应用价值。.
Objective: To investigate the clinicopathological characteristics and prognosis of patients with lupus nephritis (LN) presenting with acute kidney disease (AKD). Methods: A retrospective study was conducted on 1 136 patients diagnosed with LN via renal biopsy at the First Affiliated Hospital of Zhengzhou University between January 1, 2012, and May 31, 2019. Clinicopathological features, treatment regimens, and prognosis were compared between the AKD group and the non-AKD group among LN patients. Propensity score matching (1∶1 ratio, caliper=0.03) was used to balance differences in sex, age, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score, and LN pathological class. Kaplan-Meier survival analysis and multivariate COX regression models were applied to evaluate the impact of AKD on patient prognosis. Additionally, a subgroup analysis was performed among the LN patients with AKD to assess the effect of renal recovery at the 6-month follow-up on long-term prognosis. Results: The incidence of AKD among LN patients was 19.19% (218/1 136). In the LN with AKD group, 171 patients (78.44%) were female, and the median age was 29 (23, 43) years. Compared with patients without AKD, those with AKD exhibited a significantly higher prevalence of hypertension [52.75% (115/218) vs. 26.90% (247/918)], higher SLEDAI scores [8 (5, 12) vs. 5 (4, 10)], higher serum creatinine [153 (126, 210) μmol/L vs. 62 (51, 76) μmol/L], and higher 24-hour urine protein [3.96 (2.35, 6.70) g vs. 2.66 (1.35, 4.99) g, all P<0.05]. Patients with AKD also displayed higher renal pathological Activity Index [9 (5, 13) vs. 5 (2, 8)] and Chronicity Index scores [1 (0, 4) vs. 0 (0, 1)], alongside higher utilization rates of induction-phase glucocorticoid pulse therapy [5.96% (13/218) vs. 0.76% (7/918)], hemodialysis [1.83% (4/218) vs. 0.11% (1/918)], and plasma exchange [1.83% (4/218) vs. 0.22% (2/918)] (all P<0.05). After propensity score matching (205 patients per group), survival analysis showed that patients with AKD had lower short-term (6-month) and long-term survival rates than those without AKD (short-term: log-rank test χ2=31.64, P<0.001; long-term: log-rank test χ2=12.61, P<0.001). Multivariate COX regression analysis revealed that AKD was an independent risk factor for both poor short-term prognosis (HR=4.84, 95%CI 1.05-22.22, P=0.043) and poor long-term prognosis (HR=4.68, 95%CI 2.25-9.72, P<0.001) in patients with LN. Among patients with AKD, those who achieved renal recovery at the 6-month follow-up experienced a higher long-term survival rate than those who did not (log-rank test χ2=51.61, P<0.001). Conclusions: The incidence of AKD is relatively high among patients with LN. Moreover, LN patients presenting with AKD exhibit more severe clinical and pathological manifestations, resulting in worse short-term and long-term prognoses. Early renal recovery contributes to improved long-term outcomes in this population. 目的： 探讨合并急性肾脏病（AKD）的狼疮性肾炎（LN）患者的临床病理特征及预后。 方法： 回顾性纳入2012年1月1日至2019年5月31日于郑州大学第一附属医院行肾穿刺活检术确诊为LN的1 136例患者，按是否合并AKD分为两组，比较两组患者的临床病理特征、治疗方案及预后。采用倾向性评分匹配法（1∶1匹配，卡钳值0.03）均衡两组在性别、年龄、系统性红斑狼疮疾病活动度指数（SLEDAI）及LN病理分型上的差异。进一步通过Kaplan-Meier生存分析及多因素Cox回归模型评估合并AKD对患者预后的影响，并在合并AKD的LN患者中进行亚组分析，评估随访6个月时肾功能恢复情况对长期预后的影响。 结果： LN患者中AKD的发生率为19.19%（218/1 136）。合并AKD组中女性171例（78.44%），中位年龄为29（23，43）岁。与不合并AKD组相比，合并AKD组患者高血压比例［52.75%（115/218）比26.90%（247/918）］、SLEDAI评分［8（5，12）分比5（4，10）分］、血肌酐［153（126，210）μmol/L比62（51，76）μmol/L］、24 h尿蛋白总量［3.96（2.35，6.70）g比2.66（1.35，4.99）g］更高，LN病理活动性指数评分［9（5，13）分比5（2，8）分］及慢性指数评分［1（0，4）分比0（0，1）分］更高，且诱导期糖皮质激素冲击［5.96%（13/218）比0.76%（7/918）］、血液透析［1.83%（4/218）比0.11%（1/918）］、血浆置换［1.83%（4/218）比0.22%（2/918）］的使用率更高（均P<0.05）。倾向性评分匹配后生存分析显示，合并AKD组短期（6个月）及长期生存率均低于不合并AKD组（每组205例，log-rank检验，χ2=31.64、12.61，均P<0.001）。多因素Cox回归分析显示，合并AKD是LN患者短期不良预后的危险因素（HR=4.84，95%CI 1.05~22.22，P=0.043），亦是长期不良预后的危险因素（HR=4.68，95%CI 2.25~9.72，P<0.001）。在合并AKD组中，随访6个月时肾功能恢复患者的长期生存率高于未恢复者（log-rank检验χ2=51.61，P<0.001）。 结论： LN患者中AKD发生率较高。合并AKD的LN患者临床及病理表现均更重，短期及长期预后更差；早期肾功能恢复有助于改善其长期预后。.
Autism spectrum disorder (ASD) is a severe neurodevelopmental condition among children in China, with a prevalence of approximately 1.8%. In addition to core features-including deficits in language and communication, stereotyped behaviors, and restricted interests-many patients present with dietary imbalance, nutritional deficiencies, gastrointestinal symptoms, and gut dysbiosis. Dietary patterns influence neurodevelopment and nervous system function through the gut-brain axis. Over recent years, dietary interventions have been increasingly incorporated into comprehensive ASD management and have demonstrated benefits in alleviating gastrointestinal disturbances and specific ASD-related symptoms. However, given the high heterogeneity of ASD, treatment responses vary considerably, and no standardized or widely accepted intervention strategy has been established. Based on available scientific evidence and clinical practice, this consensus proposes a framework and provides recommendations for dietary intervention in ASD. The core recommendations include recognizing dietary intervention as a fundamental component of ASD treatment; advocating for a balanced and healthy diet while limiting high-sugar and ultra-processed foods; and implementing specific dietary approaches in combination with individualized nutritional supplementation according to coexisting multisystem symptoms. The aim of this consensus was to provide clinical guidance for healthcare professionals, promote the application of dietary interventions, and improve clinical outcomes and prognosis for individuals with ASD. 孤独症谱系障碍（ASD）是我国儿童中严重的神经精神发育障碍性疾病，患病率达1.8%。患者除语言交流障碍、刻板行为和兴趣狭窄外，还常伴有饮食失衡、营养缺乏、胃肠道症状及相关的肠道菌群紊乱。膳食结构通过肠脑轴影响神经系统的发育与功能。近年来，饮食干预在ASD综合治疗中得到广泛应用，在缓解胃肠道和ASD症状方面发挥一定作用。但因疾病的高度异质性，其疗效各异，缺乏统一且被行业认可的方案。基于现有科学证据与临床实践，本专家共识系统提出了ASD饮食干预的框架及推荐意见，核心建议包括：饮食干预是ASD治疗的基础，倡导均衡健康饮食，限制高糖和超加工食品；根据患者伴随的多系统症状选择特殊饮食模式，联合个体化营养补充策略。共识将为临床医务人员提供相关参考意见，推动ASD临床中饮食干预，改善ASD症状与预后。.
An 8-year-old girl with growth failure and multisystem involvement was admitted to the Institute of Medical Genetics at Henan Provincial People's Hospital in May 2022. She presented with craniofacial abnormalities, language delay, and psychomotor retardation, suggestive of Sensenbrenner syndrome. Whole-exome sequencing and Sanger sequencing performed on the family revealed that the proband carried two novel compound heterozygous mutations in the WDR19 gene: c.1574A>G (p.Asn525Ser) and c.196G>A (p.Gly66Arg), inherited from her father and mother, respectively. Bioinformatics analysis indicated that the amino acids encoded by these two variants are highly conserved across multiple species and that these mutations may alter the secondary and tertiary structures of the protein, potentially affecting its phosphorylation and glycosylation properties. These findings suggest that these variants likely constitute the genetic basis underlying the clinical manifestations observed in the proband. The present case expands the known mutation spectrum of the WDR19 gene, provides new evidence for the diagnosis of Sensenbrenner syndrome. 1例8岁女童因生长发育迟缓伴多系统异常，2022年5月就诊于河南省人民医院医学遗传研究所，表现为颅面部异常、语言及运动智力发育低下，疑似Sensenbrenner综合征。通过全外显子组测序及Sanger测序验证，发现患者携带WDR19基因的2个新杂合突变：遗传自父亲的c.1574A>G（p.Asn525Ser）和遗传自母亲的c.196G>A（p.Gly66Arg）。生物信息学分析显示这2个位点编码的氨基酸在多个物种中高度保守，且突变可引起蛋白二级及三级结构改变，影响磷酸化与糖基化特性，提示其可能是导致患者临床表现的遗传学基础。本例报道扩展了WDR19基因的突变谱，为Sensenbrenner综合征的分子诊断提供了新的证据。.
Objective: To analyze the trend changes and risk factors associated with Helicobacter pylori infection in the Qinghai region from 2019 to 2025, thereby enriching regional epidemiological data for H. pylori infection. Methods: This retrospective study included patients who initially presented at Qinghai University Affiliated Hospital with upper gastrointestinal symptoms and underwent 13C urea breath testing for suspected H. pylori infection. Collected data included participant demographics (name, gender, age, ethnicity, altitude of residence), medical history, and 13C urea breath test results. Count data were statistically described using case numbers and composition ratios. Trends in the composition ratio of H. pylori positivity were plotted, while Chi-square tests and logistic regression models were used to identify influencing factors and risk factors for H. pylori infection in this region. Results: A total of 19 344 cases were included as the research subjects. The results showed that the overall composition ratio for H. pylori positivity from 2019 to 2025 was 49.64% (9 602/19 344), with an increasing trend from 2019 to 2021, peaking at 55.12% (2 557/4 639) in 2021, before declining to a minimum of 42.00% (753/1 793) in 2025. This trend remained consistent across sexes. The composition ratio showed a general downward trend in populations residing in the plateau area (altitude>2 500 m) and those aged ≥18 years. Statistically significant differences in the composition ratio for H. pylori positivity were noted between male (50.59%; 4 852/9 591) and female (48.70%; 4 750/9 753) populations (χ2=6.88, P=0.009). At 54.93% (2 396/4 362), the composition ratio for H. pylori positivity was significantly higher in the 18-40 age group than in the other groups (χ2=69.88, P<0.001). The constituent ratios for Han, Tibetan, and Hui populations were 48.40% (7 315/15 115), 56.37% (1 346/2 388), and 51.11% (941/1 841), respectively, with statistically significant differences observed among these groups (χ2=54.16, P<0.001). Statistically significant differences (χ2=6.19, P=0.013) in composition ratios were also recorded between plateau (54.08%; 444/821) and non-plateau (49.35%; 2 157/4 371) populations. The factors influencing H. pylori infection in individuals with digestive system symptoms in this region were gender, age, ethnicity, and altitude. The risk factors included altitude>2 500 m (OR=1.198, P=0.019), male sex (OR=1.211, P=0.001), Tibetan(OR=1.371, P<0.001) Hui ethnicity (OR=1.112, P=0.033), and age 18-40 years (OR=1.320, P=0.028). Conclusion: The overall composition ratio for H. pylori positivity (detection rate) among people with upper gastrointestinal symptoms in this region from 2019 to 2025 was 49.64% (9 602/19 344), showing an initial upward trend before declining. This suggested that health awareness and socioeconomic conditions gradually improved in this region. This study further enriches the epidemiological data on H. pylori infection in the Qinghai region, and has certain clinical significance for guiding prevention strategies for H. pylori infection and the screening of key populations in this area. 目的： 分析2019年至2025年青海幽门螺杆菌（H. pylori）感染趋势变化及危险因素，进一步丰富该地区H. pylori感染的流行病学资料。 方法： 通过回顾性研究方法，纳入2019年1月至2025年10月因上消化道症状首次就医并就诊于青海大学附属医院疑诊H. pylori感染并行13C尿素呼气试验的患者，收集其一般资料（包括姓名、性别、年龄、民族、居住地海拔及病史）和13C尿素呼气试验检查结果。计数资料以例数和构成比进行统计描述，绘制H. pylori阳性构成比的趋势图，通过卡方检验和logistic回归模型分析本地区H. pylori感染的影响因素和危险因素。 结果： 共纳入19 344例为研究对象，结果显示2019年至2025年间总体H. pylori阳性构成比为49.64%（9 602/19 344），其中2019年至2021年H. pylori阳性构成比呈现升高趋势，2021年最高为55.12%（2 557/4 639），之后呈下降趋势，2025年最低为42.00%（753/1 793）；不同性别之间H. pylori阳性构成比变化趋势与总体趋势一致；高原地区（海拔>2 500 m）及年龄≥18岁人群H. pylori阳性构成比总体呈下降趋势。男性与女性人群中H. pylori阳性构成比分别为50.59%（4 852/9 591）和48.70%（4 750/9 753），差异有统计学意义（χ2=6.88，P=0.009）；18~40岁年龄段中H. pylori阳性构成比最高为54.93%（2 396/4 362），差异有统计学意义（χ2=69.88，P<0.001）；汉族、藏族及回族人群中阳性构成比分别为48.40%（7 315/15 115）、56.37%（1 346/2 388）及51.11%（941/1 841），各组差异均有统计学意义（χ2=54.16，P<0.001）；高原及非高原地区人群阳性构成比分别为54.08%（444/821）和49.35%（2 157/4 371），差异有统计学意义（χ2=6.19，P=0.013）。影响本地区有上消化道症状人群H. pylori感染的因素包括性别、年龄、民族及海拔高度；危险因素包括：居住地海拔>2 500 m（OR=1.198，P=0.019）、男性（OR=1.211，P=0.001）、藏族（OR=1.371，P<0.001）、回族（OR=1.112，P=0.033）及18~40岁年龄段（OR=1.320，P=0.028）。 结论： 青海地区有上消化道症状人群中2019年至2025年间总体H. pylori阳性构成比（检出率）为49.64%（9 602/19 344），呈现先升后降趋势，提示该地区群众健康意识及卫生经济条件较前逐步得到了改善。高原居住环境、男性、藏族、回族及青年人群H. pylori感染风险仍较高。通过本研究进一步丰富了青海地区H. pylori感染的流行病学资料，对指导本地区H. pylori感染的预防及重点人群的筛查具有一定临床意义。.
Objective: Leveraging data from the UK Biobank, this study investigated the association between adverse childhood experiences (ACEs) and anxiety/depression comorbidity among patients with irritable bowel syndrome (IBS). Whether any potential association was specific to the IBS population was also evaluated. Methods: This was a retrospective case-control study. The data extraction cutoff date was October 6, 2023. A total of 11 027 patients with diagnosed IBS were included as the case group for primary analysis, and 144 536 non-IBS participants from the same period were included as the control group for specificity verification. Multivariate logistic regression models were used to assess the association between ACEs and anxiety/depression, adjusting for potential confounding factors, including age, sex, adverse life events in adulthood, smoking, alcohol consumption, body mass index (BMI), socioeconomic status, and overall health. Subgroup analyses were further conducted stratified by age and sex. Finally, interaction analyses were performed to test whether the impacts of ACEs differed between the IBS and control groups. Results: The prevalence of comorbid anxiety or depression among the 11 027 patients with IBS was 32.09%. Multivariate analysis revealed that compared with patients with no history of ACEs, those reporting two or more ACEs had a 97% increased risk of comorbidity (OR=1.97, 95%CI 1.73-2.24). Each one-point increase in the total ACE score was associated with a 22% increased risk of comorbidity (OR=1.22, 95%CI 1.15-1.29). Among specific ACE types, emotional neglect (OR=1.90, 95%CI 1.66-2.19) and emotional abuse (OR=1.71, 95%CI 1.52-1.92) showed the strongest associations with comorbid anxiety/depression. Subgroup analyses indicated that these associations remained statistically significant across sexes, as well as in participants aged both 60 years and older and younger than 60 years. Interaction analyses revealed that the risk for anxiety/depression risk associated with ACEs did not differ significantly between the IBS and control groups; each one-point increase in the total ACE score was associated with a similar increase in risk in the IBS group (OR=1.22, 95%CI 1.15-1.29) and the control group (OR=1.24, 95%CI 1.21-1.27), with no statistically significant difference in effect size. Conclusion: ACEs, particularly emotional trauma, are robustly associated with anxiety and depression comorbidity among patients with IBS. Although the association appears consistent between IBS patients and the general population, IBS patients with a history of emotional trauma exhibit a higher prevalence of psychological comorbidity. Thus, they represent a high-risk group that warrants clinical prioritization. 目的： 基于英国生物银行（UK Biobank）数据库，探究童年期不良经历（ACEs）与肠易激综合征（IBS）患者伴发焦虑/抑郁共病的关联，并进一步分析该关联在IBS人群中是否具有特异性。 方法： 本研究为病例对照研究。数据提取截止日期为2023年10月6日。纳入确诊IBS的患者11 027例作为病例组做主要分析，并引入同期非IBS参与者144 536例作为对照组以进行特异性验证。采用多因素logistic回归模型评估ACEs与焦虑/抑郁的关联，校正年龄、性别、成年负性生活事件、吸烟、饮酒、体重指数、社会经济地位及总体健康等混杂因素，并进一步分年龄和性别进行亚组分析。最后，通过交互作用分析检验该关联在IBS组与对照组间的差异。 结果： 在11 027例IBS患者中，焦虑或抑郁共病的患病率为32.09%。多因素分析显示，与无ACEs暴露的患者相比，经历≥2次ACEs的患者共病风险增加97%（OR=1.97，95%CI 1.73~2.24）。ACEs总分每增加1分，共病风险增加22%（OR=1.22，95%CI 1.15~1.29）。在特定类型中，情感忽视（OR=1.90，95%CI 1.66~2.19）和情感虐待（OR=1.71，95%CI 1.52~1.92）的关联最为显著。亚组分析显示，该关联在男性和女性以及≥60岁及<60岁的群体中差异均有统计学意义。交互作用分析显示，ACEs与IBS状态对焦虑/抑郁风险无显著交互影响，ACEs总分每增加1分，IBS组（OR=1.22，95%CI 1.15~1.29）与对照组（OR=1.24，95%CI 1.21~1.27）的风险增加幅度差异无统计学意义。 结论： ACEs，特别是情感性创伤，是IBS患者伴焦虑/抑郁共病的稳健关联因素。尽管该关联在IBS患者与普通人群中表现一致，但鉴于IBS患者较高的心理共病患病率，有情感性创伤史的IBS患者仍是需临床优先关注的高危人群。.
Over the past decade, significant advances have been made in the definition, epidemiology, identification of high-risk populations, aetiology, pathophysiology, clinical classification, risk stratification, and diagnostic and therapeutic strategies for pulmonary hypertension. Echocardiography remains the primary first-line screening tool and the most widely used initial diagnostic modality, and it is essential for longitudinal follow-up and assessment of treatment response. However, to date, a unified, standardized, and protocol-based echocardiographic pathway for screening and diagnosing pulmonary hypertension remains lacking in China, resulting in marked inter-center and inter-operator variability in echocardiographic parameters and reporting. Differences among clinical experts in the selection and interpretation of echocardiographic measurements have further limited the broad application of echocardiography in guiding the diagnosis and management of pulmonary hypertension. To improve the accuracy and consistency of standardized echocardiographic screening, diagnosis, risk assessment, treatment target setting, and therapeutic response evaluation in adult pulmonary hypertension in China, experts in cardiology, pulmonary vascular medicine, respiratory medicine, and echocardiographic imaging were convened by the Pulmonary Vascular Group of Chinese Medical Doctor Association of Cardiology, Chinese Society of Echocardiography, and Specialized Committee of Cardiovascular Disease Prevention and Rehabilitation of the Chinese Association of Rehabilitation Medicine to develop this guideline based on the latest domestic and international evidence, as well as recent international guidelines and consensus statements.This guideline provides stratified recommendations according to hospital capabilities and the expertise of pulmonary vascular physicians and echocardiographic technicians, and integrates echocardiographic workflows and acquisition parameters applicable to different levels of medical institutions. The workflow spans the entire disease course, including screening, diagnosis, assessment, and follow-up. This guideline aims to establish a unified pathway for echocardiographic application and parameter acquisition across institutions and physicians of varying backgrounds and levels, and to serve as a reference for further standardizing echocardiographic evaluation of adult pulmonary hypertension in China. 近十余年来，肺高血压在定义、流行病学、高危人群、病因、病理生理学，以及临床分类、风险评估、诊断与治疗策略等方面均取得显著进展。超声心动图是肺高血压的一线筛查方法和最常用的无创诊断手段以及最重要的系统性评估检查策略之一，对肺高血压的筛查、诊断和治疗具有非常重要的意义。但是，迄今为止我国鲜见统一、规范和标准化的肺高血压超声心动图筛查及诊断流程，这导致不同中心、不同操作者超声心动图检测指标和报告结果存在较大差异。不同临床专家对超声心动图的检测指标及结果解读各异，明显地制约了超声心动图在肺高血压诊治指导中的广泛应用。为了进一步提升我国超声心动图在成人肺高血压规范化筛查、诊断、风险评估、治疗目标制定和治疗效果判断中的准确性及一致性，同时为超声医师及临床医师提供一个科学的临床应用指南，中国医师协会心血管内科分会肺血管学组、中国超声心动图学会和中国康复医学会心血管疾病预防与康复专委会组织心血管病学、肺血管病学、呼吸病学和超声影像学等各领域的相关专家，根据国内外最新研究成果及国内外的循证医学证据，结合国际肺高血压心动超声检查最新指南或共识，制订了本指南。本指南根据不同级别医院和肺高血压中心肺血管专业医师及超声心动图技术人员条件分层描述，整合出适合不同级别医院或中心的超声心动图操作流程及采集参数，再根据临床诊治阶段及需求，将流程逐一展开到筛查、诊断、评估和随访等全疾病周期，从而为不同背景及级别医院和医师提供统一的超声心动图应用路径及指标采集，为进一步规范我国超声心动图评估成人肺高血压提供参考。.
This study aimed to identify mutations in the SLC12A3 gene and investigate their role in the pathogenesis of Gitelman syndrome. Sanger sequencing of the SLC12A3 gene was performed using samples from a patient clinically suspected of having Gitelman syndrome, who was admitted to the Department of Endocrinology and Metabolism at Shanghai Fengxian District Central Hospital in August 2024. Upon identification of mutations, the relevant exons were sequenced in her first-degree relatives. Functional predictions of the protein were made using CADD, DANN, MetaSVM, Polyphen2, SIFT, and M-CAP software. A previously unreported missense variant, NM_000339:c.704C>A (p.Thr235Lys), located in exon 16 of SLC12A3, was identified in homozygosity in the proband and in heterozygosity in her daughter. This mutation was absent in all control individuals. Multiple prediction tools consistently indicated that the mutation likely disrupts gene/protein structure or function. The c.704C>A mutation in exon 16 of SLC12A3 is a novel pathogenic variant contributing to the development of Gitelman syndrome. 探讨Gitelman综合征（GS）患者及其家系SLC12A3基因突变的遗传机制。对2024年8月上海市奉贤区中心医院内分泌代谢科收治的1例临床拟诊GS的患者进行SLC12A3基因Sanger测序，并对其一级亲属相应SLC12A3基因外显子进行扩增测序，通过CADD、DANN、MetaSVM、Polyphen2、SIFT、M-CAP软件进行蛋白功能损害预测。先证者及其女儿的SLC12A3基因第16号外显子分别发现尚未报道的NM_000339：c.704C>A纯合及杂合错义突变，导致Thr235Lys突变，多种预测方法均提示该变异对基因/蛋白质结构或功能造成有害影响。SLC12A3基因第16号外显子c.704C/A突变是新发现导致GS的致病性突变。.
MRI-guided interventional techniques integrate the high-resolution imaging capabilities of magnetic resonance imaging (MRI) with minimally invasive interventional diagnostic and therapeutic technologies. Through real-time dynamic imaging guidance, magnetic compatibility of instruments, and multiparametric functional assessment, these techniques enable precise diagnosis and targeted treatment of lesions throughout the body. Leveraging MRI' s core strengths of high soft-tissue resolution, multiparametric functional imaging, real-time monitoring, and absence of ionizing radiation, MRI-guided interventions offer unique value in complex areas such as the brain and liver dome, where traditional CT or ultrasound guidance may fall short. They are widely applied in diagnostic and therapeutic scenarios, including percutaneous biopsy and tumor ablation treatments such as radiofrequency, microwave, cryotherapy, and focused ultrasound, as well as neuromodulation. However, current clinical applications face challenges such as significant variability in equipment, lack of standardized procedures, and inadequate management of complications, leading to inconsistent therapeutic outcomes and restricted application of the technology. To address these issues, the MRI Interventional Expert Group under the Chinese College of Interventional Physicians, in collaboration with multidisciplinary experts, has developed this consensus statement. It systematically standardizes the indications and contraindications, selection criteria for equipment and instruments, requirements for operating room management, detailed procedural steps, perioperative quality control measures, and prevention and management strategies for various complications. The aim is to provide standardized guidance for clinical practice, enhance the safety and efficacy of diagnosis and treatment, and promote the standardized application of this technology. 磁共振导引介入诊疗技术是将磁共振成像（MRI）的高精准影像优势与微创介入诊疗技术深度融合，通过实时动态影像导引、磁兼容性器械操作及多参数功能评估，实现对全身各部位病变的精准诊断与靶向治疗。该技术凭借 MRI 高软组织分辨率、多参数功能成像、实时监控及无电离辐射等核心优势，在CT、超声传统影像导引难以精准显示的脑内、肝顶等复杂部位病变中展现出独特价值，已广泛应用于穿刺活检及射频、微波、冷冻、聚焦超声等肿瘤消融治疗、神经调控、诊断与治疗场景。但目前临床应用存在设备差异大、操作流程不规范、并发症管理不足等问题，导致疗效不一，技术应用受限。因此，中国医师协会介入医师分会磁共振介入专家工作组等机构牵头，联合多学科专家制定本共识。共识系统规范了该技术的适应证与禁忌证、设备及器械的选择标准、手术室管理要求、详细操作流程、围手术期质量控制措施以及各类并发症的防控与处理方案，旨在为临床提供标准化指导，提升诊疗安全性与有效性，推动技术规范化应用。.
患者（先证者）男性，32岁，因泡沫尿1年余于2022年1月收治于南京医科大学附属泰州人民医院肾内科，诊断法布雷病。2年时间内对该患者（先证者）进行家系筛查，共确诊6例法布雷病。随后对其中2例患者进行酶替代治疗（阿加糖酶β每2周静脉滴注1 mg/kg），并随访治疗效果。分析该家系筛查经过、遗传特征、临床表现及治疗过程，有助于提高临床医生对法布雷病的认知。.