经肺泡灌洗液高通量测序诊断婴儿肺孢子菌肺炎1 例并文献复习

目的探讨肺孢子菌肺炎的病因、临床表现、病原学诊断和治疗。方法回顾分析1例肺孢子菌肺炎患儿的临床资料。结果患儿,男,2个月20天,临床表现为慢性咳嗽、气促、烦躁、低氧血症;肺部影像呈双肺弥漫性浸润改变;经支气管镜术取肺泡灌洗液进行宏基因高通量测序后证实为肺孢子菌感染。确诊后予甲氧苄胺嘧啶-磺胺甲噁唑(TMP-SMZ)治疗,临床症状基本消失,肺部 CT明显好转。结论肺泡灌洗液行宏基因高通量测序可诊断肺孢子菌肺炎。     

Lacosamide for children with paroxysmal kinesigenic dyskinesia

ObjectivesThis study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children.MethodsWe retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, proline-rich transmembrane protein 2 (PRRT2) gene variant, clinical features of PKD, dose of LCM, efficacy, and adverse events were recorded.ResultsFour eligible patients (3 males, 1 female) were identified, with an age of onset ranging from 8.3 to 14.7 years. PRRT2 variant was evaluated in three children and a c.649dupC variant was identified in one child with a positive family history. Attacks were bilateral in three children and left-sided in one. Two children had a family history of PKD and one child had a family history of benign infantile epilepsy. Treatment with carbamazepine failed in two children due to drowsiness and auditory disturbance. The initial dose of LCM was 50 mg/day in three children and 100 mg/day in one. All patients were attack-free within a few days. The maintenance dose was mostly similar to the initial dose. No adverse events related to LCM were reported during follow-up.ConclusionsLCM is an effective and well-tolerated treatment for PKD in children, and low-dose treatment may be viable.     

克隆性造血对肿瘤体细胞突变检测的影响

克隆性造血（clonal hematopoiesis,CH）突变是造血干细胞（hematopoietic stem cell,HSC）携带的突变,是年龄和外在环境（吸烟、放化疗等）共同作用的结果。随着肿瘤基因研究的进展,基因检测已成为实体瘤患者全病程管理中一个重要的环节。目前CH在实体瘤中的价值越来越受到关注。将围绕CH的检出,详细阐述实体瘤患者组织样本及循环肿瘤DNA （circulating tumor DNA,ctDNA）样本中CH的检测方法,探讨CH对肿瘤体细胞突变检测的影响和挑战。     

基于单中心的恶性肿瘤患者合并心血管及代谢疾病的调查

目的:探讨恶性肿瘤、心血管病变和代谢疾病三者之间的关联。方法:搜索2018年9月1日至2018年10月31日期间在复旦大学附属中山医院心脏超声诊断科进行心脏超声心动图检查的患者,根据病史资料统计恶性肿瘤患者例数,并分析其合并心脏疾病和代谢疾病情况。结果:搜索行心脏超声心动图检查的患者共计26 698例,其中经病理检查或经影像学检查明确证实的恶性肿瘤患者1 992例,男性1 084例,女性908例,平均年龄（62.62±11.42）岁。左室射血分数平均值为（65.35±4.94）%。合并心脏疾病共220例,占11.04%。合并代谢疾病共1 052例,占52.81%。结论:恶性肿瘤患者在心脏超声心动图检查的患者中比例较高,合并心脏疾病、代谢疾病情况也不在少数;恶性肿瘤及相关治疗既能造成心脏疾病的发生又可导致代谢疾病的出现,故需对恶性肿瘤患者进行早期预防和干预治疗,以减少心脏疾病和代谢疾病的发生或加重。     

应用3.0T磁共振IDEAL-IQ检测椎体骨髓脂肪分数诊断骨质疏松的效能评价

目的 评价3.0T磁共振最小二乘估算法迭代水脂分离定量技术(IDEAL-IQ)检测椎体骨髓脂肪分数(FF)诊断骨质疏松的效能。方法 选择2021年2月至2022年2月在该院进行健康体检者51名,其中男25名,女26名。采用双能X射线骨密度仪(DXA)检测骨密度值(T值),采用3.0T磁共振IDEAL-IQ检测椎体骨髓FF值,两项检查在同一天完成。以DXA检查结果将研究对象分为骨质正常组(T值≥-1.0 SD,25例)和骨质疏松组(T值≤-2.5 SD,26例)。比较两组FF值,并分析FF值与T值的相关性。采用ROC曲线评估FF值诊断骨质疏松的效能。结果 与骨质正常组相比,骨质疏松组年龄、FF值较大,T值较小,差异有统计学意义(P<0.05)。Spearman秩相关分析结果显示,FF值与T值呈负相关(r_s=-0.642,P<0.001)。ROC曲线分析结果显示,FF值可用于诊断骨质疏松[AUC(95%CI)=0.922(0.879～0.965),P<0.001],最佳截断值为50.42%,其对应的灵敏度为88.10%,特异度为82.60%。结论 3...     

Prognostic Significance of Tumor Growth Rate (TGR) in Patients with Huge Hepatocellular Carcinoma Undergoing Transcatheter Arterial Chemoembolization

The prognostic value of the tumor growth rate (TGR) in huge hepatocellular carcinoma (HHCC) patients treated with transcatheter arterial chemoembolization (TACE) as an initial treatment remains unclear. This two-center retrospective study was conducted in 97 patients suffering from HHCC. Demographic characteristics, oncology characteristics, and some serological markers were collected for analysis. The TGR was significantly linear and associated with the risk of death when applied to restricted cubic splines. The optimal cut-off value of TGR was −8.6%/month, and patients were divided into two groups according to TGR. Kaplan–Meier analysis showed that the high-TGR group had a poorer prognosis. TGR (hazard ratio (HR), 2.06; 95% confidence interval (CI), 1.23–3.43; p = 0.006), presence of portal vein tumor thrombus (PVTT) (HR, 1.93; 95% CI, 1.13–3.27; p = 0.016), and subsequent combination therapy (HR, 0.59; 95% CI, 0.35–0.99; p = 0.047) were independent predictors of OS in the multivariate analysis. The model with TGR was superior to the model without TGR in the DCA analysis. Patients who underwent subsequent combination therapy showed a longer survival in the high-TGR group. This study demonstrated that higher TGR was associated with a worse prognosis in patients with HHCC. These findings will distinguish patients who demand more personalized combination therapy and rigorous surveillance.     

Comparison of CryoMaze With Cut-and-Sew Maze Concomitant With Mitral Valve Surgery: A Randomized Noninferiority Trial

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Associations of cadmium,bisphenol A and polychlorinated biphenyl co-exposure in utero with placental gene expression and neonatal outcomes

In utero co-exposure to endocrine disrupting compounds can perturb fetal development. However, the effect of co-exposure on pivotal regulatory genes has seldom been investigated. We explored the effects of in utero co-exposure to cadmium (Cd), bisphenol A (BPA) and polychlorinated biphenyls (PCBs) on master regulator genes. We recruited 284 healthy pregnant women, of whom 262 provided both cord blood and placenta samples, and 200 had all measurements taken. Placental Cd, cord blood BPA and total PCBs in the exposed group were higher than a reference group. KISS1 expression level in placental tissue was threefold higher in the exposed group than in the reference, and was positively associated with all toxicants. Leptin and leptin receptor expression were also significantly higher, but were only associated with BPA. From our findings, we conclude that lower birth weight is correlated with Cd and PCBs, and may result from the increased KISS1 mRNA expression.     

Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma

BackgroundFH-deficient renal cell carcinoma (RCC) is a rare and exceptionally aggressive RCC subtype. There is currently limited understanding of the molecular alterations, pathogenesis, survival outcomes, and systemic therapy efficacy for this cancer.ObjectiveTo perform a retrospective multicenter analysis of molecular profiling and clinical outcomes for patients with FH-deficient RCC, with an emphasis on treatment response to first-line immune checkpoint inhibitor plus tyrosine kinase inhibitor (ICI/TKI) versus bevacizumab plus erlotinib (Bev/Erlo) combination therapy in patients with advanced disease.Design, setting, and participantsThe study included 77 cases of FH-deficient RCC from 15 centers across China.Outcome measurements and statistical analysisClinical characteristics, molecular correlates, ¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography imaging, and treatment outcomes were analyzed.Results and limitationsA total of 77 patients were identified, including 70 cases with a germline FH alteration (hereditary leiomyomatosis RCC syndrome [HLRCC]-associated RCC) and seven patients with somatic FH loss. Recurrent pathogenic alterations were found in NF2 (six/57, 11%), CDH1 (six/57, 11%), PIK3CA (six/57, 11%), and TP53 (five/57, 8.8%). Sixty-seven patients were evaluable for response to first-line systemic therapy with Bev/Erlo (n = 12), TKI monotherapy (n = 29), or ICI/TKI (n = 26). ICI/TKI combination therapy was associated with more favorable overall survival on systemic treatment (hazard ratio [HR] 0.19, 95% confidence interval [CI] 0.04–0.90) and progression-free survival on first-line therapy (HR 0.22, 95% CI 0.07–0.71) compared to Bev/Erlo combination therapy. The main limitation is the retrospective study design.ConclusionsWe described the genomic characteristics of FH-deficient RCC in an Asian population and observed a favorable response to ICI/TKI combinational therapy among patients with advanced disease.Patient summaryThis real-world study provides evidence supporting the antitumour activity of combining molecular targeted therapy plus immunotherapy for kidney cancer deficient in fumarate hydratase. Further studies are needed to investigate the efficacy of this combination strategy in this rare cancer.