Autosomal dominant polycystic kidney disease （ADPKD） is a systemic hereditary renal disorder and can affect multiple organs， and congenital hepatic fibrosis is one of the manifestations of liver involvement and is an important complication of ADPKD. Symptomatic management is currently the main treatment method for this disease， and disease-specific drugs such as tolvaptan have limited indications and cannot correct the underlying genetic defect. This article reports a case of ADPKD with congenital hepatic fibrosis， and sirolimus was identified as the individualized treatment regimen based on peripheral blood functional genomic analysis and drug sensitivity prediction platform. The patient achieved significant improvements in symptoms and quality of life after treatment， with a stable kidney volume. This case shows that functional genomics has a potential value in guiding individualized treatment of rare genetic disorders， which provides new treatment ideas and practice paths for similar patients.

Objective:To explore the influencing factors of left ventricular thrombus (LVT) in patients with non-ischemic heart failure (NIHF) and to construct a nomogram prediction model for NIHF patients with LVT.Methods:This study was a case-control study. A total of 2 592 patients with NIHF hospitalized in Beijing Anzhen Hospital affiliated to Capital Medical University from January 2018 to July 2022 were selected. Fifty-one patients with LVT identified by echocardiography and cardiac magnetic resonance were classified into LVT group. One hundred and sixty patients were selected as the non-LVT group using a 1∶3 propensity score matching based on age and gender. Multivariate logistic regression analysis was used to explore the influencing factors of LVT in patients with NIHF. A nomogram prediction model was constructed, and the area under (AUC) the receiver operating characteristic (ROC) curve was calculated to evaluate the predictive effect of the model.Results:A total of 211 patients were enrolled, with a median age of 40 years old and 160 males (76%). Compared with non-LVT group, LVT group had lower systolic blood pressure ((112±20) mmHg vs. (120±19) mmHg; 1 mmHg=0.133 kPa), lower left ventricular ejection fraction (LVEF; (27±12)% vs. (39±14)% ), lower proportion of patients with history of hypertension (28% (14/51) vs. 44% (70/160)) and atrial fibrillation (8% (4/51)vs.39% (62/160)), higher proportion of patients with New York Heart Association functional class Ⅲ to Ⅳ (class Ⅲ: 59% (30/51) vs. 41% (66/160); class Ⅳ: 28% (14/51) vs. 19% (31/160)), and larger left ventricular end-systolic diameter (LVESD; (56±14) mm vs. (50±15) mm). The levels of hemoglobin ((152±23) g/L vs. (142±30) g/L), D-dimer (508 (300, 1 105) μg/L vs. 158 (68, 379) μg/L), and N-terminal pro-brain natriuretic peptide (3 429 (2 462, 4 734) ng/L vs. 1 288 (422, 2 544) ng/L) were higher in LVT group than in non-LVT group ( P all<0.05). LVT group had a higher proportion of patients using beta-blockers (92% (47/51) vs. 78% (124/160)), angiotensin-converting enzyme inhibitors or angiotensin receptor blockers or angiotensin receptor neprilysin inhibitors (88% (45/51) vs. 72% (115/160)), and anticoagulant drugs (98% (50/51) vs. 32% (51/160)) than non-LVT group (all P <0.05). Multivariate logistic regression showed that reduced LVEF ( OR=1.08, 95% CI 1.02-1.15, P=0.008), decreased LVESD ( OR=1.07, 95% CI 1.01-1.12, P=0.013), and increased D-dimer levels ( OR=5.40, 95% CI 1.98-14.74, P=0.001) were independent influencing factors for LVT in patients with NIHF. The ROC curve showed that the AUC of the nomogram for predicting LVT in patients with NIHF was 0.793 (95% CI 0.710-0.876, P<0.001). Conclusion:Reduced LVEF, decreased LVESD, and elevated D-dimer are associated with LVT in NIHF patients. The predictive model developed based on the above indicators has certain value in predicting LVT in NIHF patients.

Objective:To investigate the association between age and cardiac tamponade after radiofrequency ablation of atrial fibrillation(RAAF).Methods:Clinical data of patients undergone de novo AF ablation procedures at Beijing Anzhen Hospital from January 2013 to December 2016 were retrospectively collected.Patients were divided into an elderly group(age ≥60 years)and a non-elderly group(age <60 years). Logistic regression analyses were used to evaluate the association between old age and the risk of cardiac tamponade complicating RAAF.Results:A total of 5 313 patients were involved in this study, including 41 patients(0.77%)with cardiac tamponade.The proportion of cardiac tamponade was higher in the elderly group than in the non-elderly group(1.1% or 32/2 950 vs.0.4% or 9/2 363, χ2=8.489, P=0.004). One patient with cardiac tamponade in the elderly group required immediate surgical repair whereas none in the non-elderly group did.No patient died in hospital.Multivariate Logistic regression analysis showed that the risk of cardiac tamponade increased in the elderly group, compared with the non-elderly group( OR=2.570, 95% CI: 1.190-5.570, P=0.017). Stratified analysis revealed that among females and patients with oral anticoagulants, left atrium dimension < 40 mm or procedure duration≥ 120 min in the elderly group carried a higher risk of cardiac tamponade than those in the non-elderly group( OR=1.011, 2.914, 3.922 and 3.244, P<0.05). Conclusions:Old age(age ≥60 years)is an independent risk factor for cardiac tamponade complicating RAAF.

To evaluate the efficacy and safety of left atrial appendage occlusion (LAAO) in patients with atrial fibrillation (AF) over 75 years. A total of 82 patients with AF who underwent LAAO successfully in Beijing Anzhen Hospital from March 2014 to March 2019 were divided into two groups according to age: the elderly group (aged>75 years) and the young group (aged ≤75 years). Risk of perioperative complications and incidence of ischemic stroke and major bleeding during follow-up were retrospectively analyzed. The results showed that there were no significant differences in procedure-related ischemic stroke(0 vs.1.6%, P=0.768) and major bleeding (0 vs.1.6%, P=0.768) during perioperative period between the two groups. No complications as death or pericardial tamponade occurred in the two group. During a (25.9±15.9) months period of followed up, ischemic stroke event rate was 3.6/100 person-years in the elderly group and 4.9/100 person-years in the young group, respectively. Major bleeding event rate was 2.5/100 person-years in the elderly group and 0/100 person-years in the young group, respectively. Compared with the expected ones, the relative risk reduction (RRR) of stroke in the elderly group was more profound than that in the young group (32.0% vs. 25.0%), while the risk of major bleeding in the young group was significantly lower than that in the elderly group (RRR 100% vs. 56.9%). Therefore, LAAO might be suitable for stroke prevention in the elderly AF patients.

Objective: To investigate the CT and MR imaging features of hepatic ischemia/necrosis after hepatosplenic surgery and upper gastrointestinal hemorrhage. Methods: A total of 36 patients diagnosed with hepatic ischemia/necrosis by both medical imaging and clinical diagnosis shortly after hepatosplenic surgery and upper gastrointestinal hemorrhage were collected, including 9 patients with liver cancer resection, 5 patients with liver cancer ablation (microwave ablation/radiofrequency ablation, argon-helium knife, alcohol injection), 11 patients with spleen resection, and 11 patients with upper gastrointestinal bleeding. Conventional liver CT and / or MR plain and dynamic enhancement scan were performed to comprehensively analyze the morphology and density/signal performance of the lesions. Results: (1) Number of lesions: All cases had multiple lesions. (2) Distribution of lesions: scattered in the liver lobes, clustered or regional distribution, mainly in the periphery of the liver. (3) Size of lesions: the boundary of the nodular lesion was clear, and the single maximum diameter was 1.0-1.5 cm. It can be fused into a wedge-shaped patch or a segmental/sub-segmental large patch with a slight mass effect. (4) CT density or MR signal characteristics: CT plain scan showed slightly low density; MR plain scan showed slightly low signal on T1WI, high signal on T2WI, slightly high signal on DWI and no lipid/fat on dual phase imaging; 24 out of 36 cases (66.7%) showed no enhancement, while some lesions showed thin ring enhancement on the edge; emboli were found in the main and/or branches of portal vein (21/36 cases, 58.3%). (5) In the short-term review (minimum 5 days), the lesions became smaller or disappeared, and the local liver volume became smaller or the surface was depressed. Conclusions Hepatic ischemia/necrosis occurs after hepatosplenic surgery and upper gastrointestinal hemorrhage. The imaging manifestations are multiple nodular or flaky hypovascular foci, and the short-term review shows a markedly improvement. It needs to be differentiated from infection and metastasis of malignant tumors after operation.

Objective: To observe the efficacy of 755 nm picosecond laser and intense pulsed light in the treatment of facial freckles. Methods: Sixty-six outpatients with freckles were randomly divided into two groups. They were treated with 755 nm picosecond laser (P755 nm) and intense pulsed light (IPL), respectively. Frequent freckles were analyzed before treatment and at 4 week after treatment. Results: Both treatments had good curative effect, but the P755 nm group had better efficacy than the IPL group with significant difference. Conclusions 755 nm picosecond laser and IPL can treat freckles very well, and P755 nm group is superior to IPL.

Objective: To analyze the interpretation results on the pathogenic classification of KCNH2 variants and SCN5A variants of long QT syndrome (LQTS) based on American College of Medical Genetics and Genomics (ACMG) guidelines by 4 clinical gene screening agencies from Beijing. Methods: Pathogenic classification of 16 variants in KCNH2 and SCN5A was made by 4 clinical gene screening agencies from Beijing based on ACMG guideline. Krippendorff's alpha was used to assess the inter-agency variation consistency. Results: All 4 agencies made pathogenic assessment on all the variants and provided the interpretation results for the classification. For the eight variants from the patients with LQTS, the consistency of classification was only 1/8 and the alpha test value was - 0.01. For the eight variables from incidental findings, the consistency of classification was 4/8 and the alpha test value was 0.407. Evidence analysis of the 4 variants with large differences in classification among agencies showed that the main reasons for the discrepancies originated from the comprehensiveness of the literature search and the inconsistency of the subjective determination of the evidence grade. Conclusion The consistency of the pathogenic classification of LQTS gene variants based on ACMG guidelines among clinical gene screening agencies from Beijing is poor, which will result in great impact on the clinical treatment strategies of the patients with LQTS. The standardization of pathogenic evaluation of variants in clinical gene screening agencies needs to be improved urgently.

BACKGROUNDNeutrophil/lymphocyte ratio (NLR) has been proposed as a novel marker of systemic inflammation and oxidative stress. The objective of this study was to ascertain the relationship between levels of NLR and recurrence of lone atrial fibrillation (AF) after catheter ablation.

METHODSA total of 379 lone AF patients who underwent catheter ablation were enrolled in the study. The NLR before and after catheter ablation was determined. Cox regression analyses were used to estimate the relationship between NLR and the recurrence of lone AF.

RESULTSAfter a mean follow-up of (30.5 ± 5.3) months, 124 (32.7%) patients had AF recurrences. The patients who developed AF recurrence had a higher postablation NLR (post-NLR) than patients with no recurrence (5.74 ± 1.55 vs. 4.66 ± 1.27, P < 0.001). Multivariate Cox regression analysis revealed that post-NLR (hazard ratio (HR) 1.514, 95% confidence interval (CI) 1.364-1.680, P < 0.001), left atrium diameter (HR 1.035, 95% CI 1.001-1.071, P = 0.04) and body mass index (HR 1.028, 95% CI 1.002-1.054, P = 0.03) were independent predictors of AF recurrence. Using a cut-off level of 5.15, post-NLR predicted AF recurrence with a sensitivity of 73% and specificity of 67%.

CONCLUSIONSOur results indicate that an elevated post-NLR is associated with a high rate of lone AF recurrence. A simple measurement of NLR may help us to identify high-risk patients who need pharmacologic intervention to prevent recurrence.

Adult ; Atrial Fibrillation ; surgery ; Catheter Ablation ; Female ; Humans ; Lymphocytes ; immunology ; Male ; Middle Aged ; Neutrophils ; immunology ; Proportional Hazards Models

Objective To evaluate the feasibility and effect of three-points ablation approach in in treatment of typical atrial flutter guided by CARTO. Methods Twenty-six patients with typical atrial flutter diagnosed by ECG and electrophysiological study (EPS) were enrolled in this study. Activation sequence mapping and linear ablation were performed in 11 patients (conventional group) . Three-points guided linear ablation with CARTO system was performed in another15 patients (three-points group) . Results There was no significant difference in the success rate between the two groups. Both the procedure and fluoroscopic time in three-points group were significantly shorter than that in conventional group [(72.66±29.82) vs (102.52±32.61) min;(4.26±2.76) vs (7.32±3.16) min] . Conclusions The three-points ablations approach is as safe and effective as conventional ablation approach in treatment of typical atrial flutter;however,the former can significantly shorten the procedure time and fluoroscopy time.

ObjectiveTo explore clinical application of selecting flap by using of digital technique in treatment of hemifacial atrophy.MethodsSeven patients with hemifacial atrophy were selected,preoperative CT angiography was performed,deformity and flap three-dimensional reconstruction and design bone and soft tissues using Mimics 14.3 software, latissimus muscular flap or femur anterolateral flap were selected,according to tilt donor area and recipient area blood vessel diameter. Defect model were printed using rapid prototyping. ResultsHemifacial atrophy had a good postoperative shape,and the flaps survived in all the 7 cases.Follow-up 3 years,the flaps look well and the patients get expecting results. ConclusionsThe digital technique was a relatively useful tool that can assist surgeons with reconstruction of the flap,and accurate marking of the extent of the flap to be harvested.Therefore avoiding intraoperative injuries to the blood vessels to better survival of the flaps.