Peking Union Medical College Research Articles

Clinical significance of DNA damage response mutations in stage I and stage IIIa NSCLC.

DNA damage response (DDR) pathways are essential to sustain genomic stability and play a critical role in cancer development and progression. Here, we investigated the profile of DDR gene mutations in early-stage non-small cell lung cancer (NSCLC) and their prognostic values. We first examined 74 DDR genes involved in seven DDR pathways and then focused on six specific genes: ATM, BRCA1, BRCA2, CHEK1, BARD1, and BRIP1. A total of 179 stage I and IIIa NSCLC patients who received curative resection in Peking Union Medical College Hospital and their corresponding samples were collected for DNA sequencing, immunohistochemistry and survival analysis. A total of 167 eligible patients were finally analyzed. Mutation frequencies were 82% and 26.3% for the selected 74 genes and six genes, respectively. Mismatch repair (MMR) and nucleotide excision repair (NER) alterations were observed more frequently in lung squamous cell carcinoma (LUSC) and smokers were more likely to develop the selected six DDR gene mutations than those who never smoked. Deleterious mutations in the six genes were independent prognostic indicators of significantly longer disease-free survival and overall survival. No association was found between DDR gene status and PD-L1 expression, CD8 positive lymphocyte and tumor-associated macrophage infiltration in tumor area. However, numbers of mutations were significantly increased among patients with DDR alterations. Deleterious mutations of these six genes were common in resected NSCLC and could serve as prognostic biomarkers.

Relapsing polychondritis: focus on cardiac involvement.

Relapsing polychondritis (RP) with cardiac involvement may present with acute cardiovascular events, and may be associated with a negative prognosis. Herein, we analyzed the clinical characteristics of RP patients with cardiac involvement. RP patients, hospitalized from December 2005 to December 2021 at Peking Union Medical College Hospital (PUMCH), were screened. Univariate and multivariate logistic regression analyses were used to statistically analyze the clinical characteristics of these patients. The incidence of cardiac involvement in inpatients with RP was 24.1%. Univariate logistic regression analysis revealed age, central nervous system (CNS) involvement, neutrophil-to-lymphocyte ratio (NLR) > 6.41, and disease duration > 4 years as risk factors for cardiac involvement in RP. Conversely, the incidence of tracheobronchial and chest wall involvement was significantly lower in the group with cardiac involvement. Multivariate logistic regression confirmed that age, CNS involvement, NLR > 6.41, and disease duration > 4 years were independent factors for cardiac involvement. Subsequently, we identified five well-defined clinical patterns of RP, based on the involvement of different organs in our patients, and found that the heart-brain model was significantly mutually exclusive with the airway model. Occurrence of cardiac involvement in RP is associated with age, CNS involvement, NLR, and disease duration. It is mutually exclusive with airway-related involvement. Regular echocardiography and electrocardiography are necessary for patients with RP.

Higher incidence of hematuria was observed in female children with microtia

The goals of this study were to investigate the incidence and characteristics of hematuria in patients with microtia, and to clarify that more attention should be paid to renal dysfunction in patients with microtia. We conducted a retrospective cohort study of a total 9447 children diagnosed with microtia (selected as study group, 7037 children) or pigmented nevus (selected as control group, 2410 children) at the Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from January 2009 to June 2021. All of the routine urinalysis report of these children were reviewed to assess the incidence and characteristics of hematuria in each group. No statistically significant differences were observed when analyzing the overall incidence of hematuria between the study and control groups (P > 0.05). However, after grouping by sex, the incidence of hematuria in female children with microtia was significantly higher than that in femalecontrol group and no similar results were observed in the male patients. In addition, after further grouping by age in case group, the incidence of hematuria in girls of all ages with microtia was significantly higher than that in males with microtia (age 0–10:males: Girls = 1.89%:4.14%; age 0–5: males: Girls = 1.22%:3.73%; age 6–10: males:Girls = 1.97%:4.14%,P < 0.05), while no similar results were obtained in the control group.(age 0–10:males: Girls = 1.39%:2.22%; age 0–5: males: Girls = 1.07%:1.95%; age 6–10: males: Girls = 3.38%:3.17%, P > 0.05). Higher incidence of hematuria was observed in female children with microtia.

Advanced ovarian yolk sac tumor: upfront surgery or neoadjuvant chemotherapy followed by interval debulking?

ObjectiveTo compare surgery and survival outcomes between neoadjuvant chemotherapy and primary debulking surgery in patients with advanced ovarian yolk sac tumor.MethodsIn this retrospective cohort analysis, patients with stage III to...

CT-Based Weighted Radiomic Score Predicts Tumor Response to Immunotherapy in Non-Small Cell Lung Cancer

Objective To develop a CT-based weighted radiomic model that predicts tumor response to programmed death-1(PD-1)/PD-ligand 1(PD-L1)immunotherapy in patients with non-small cell lung cancer. Methods The patients with non-small cell lung cancer treated by PD-1/PD-L1 immune checkpoint inhibitors in the Peking Union Medical College Hospital from June 2015 to February 2022 were retrospectively studied and classified as responders(partial or complete response)and non-responders(stable or progressive disease).Original radiomic features were extracted from multiple intrapulmonary lesions in the contrast-enhanced CT scans of the arterial phase,and then weighted and summed by an attention-based multiple instances learning algorithm.Logistic regression was employed to build a weighted radiomic scoring model and the radiomic score was then calculated.The area under the receiver operating characteristic curve(AUC)was used to compare the weighted radiomic scoring model,PD-L1 model,clinical model,weighted radiomic scoring + PD-L1 model,and comprehensive prediction model. Results A total of 237 patients were included in the study and randomized into a training set(n=165)and a test set(n=72),with the mean ages of(64±9)and(62±8)years,respectively.The AUC of the weighted radiomic scoring model reached 0.85 and 0.80 in the training set and test set,respectively,which was higher than that of the PD-L1-1 model(Z=37.30,P<0.001 and Z=5.69,P=0.017),PD-L1-50 model(Z=38.36,P<0.001 and Z=17.99,P<0.001),and clinical model(Z=11.40,P<0.001 and Z=5.76,P=0.016).The AUC of the weighted scoring model was not different from that of the weighted radiomic scoring + PD-L1 model and the comprehensive prediction model(both P>0.05). Conclusion The weighted radiomic scores based on pre-treatment enhanced CT images can predict tumor responses to immunotherapy in patients with non-small cell lung cancer.

Impact of Practical Online Lessons on Chinese Medical Students' Perception of Radiation Oncology.

Radiotherapy is an essential component of oncology treatment. It is imperative that clinicians and medical students have a fundamental understanding of radiotherapy. However, radiation oncology education is deficient worldwide. This study introduced an hour-long online Massive Open Online Course (MOOC) as a supplement to the basic curriculum for 8-year medical students at Peking Union Medical College and Tsinghua University in China. The students' personal opinions and comprehension of radiation oncology therapy were assessed through pre- and post-test questionnaires before and after the MOOC study. The results indicated that the percentage of students interested in radiotherapy increased, and their knowledge of radiotherapy significantly improved after the online MOOC study, suggesting that short-term MOOC study may stimulate students' interest in learning and improving their knowledge of radiation therapy. The study suggests that the combination of online and offline teaching may be a feasible way to develop radiation oncology education in the future.

Purtscher-like retinopathy in systemic lupus erythematosus: clinical features, risk factors and prognosis.

Purtscher-like retinopathy (PLR) is a rare ocular manifestation in systemic lupus erythematosus (SLE) with poor prognosis, but its clear risk factors and treatment consensus are still lacking. To investigate the clinical features, risk factors and prognosis of PLR in SLE patients. A retrospective analysis was conducted on SLE patients with PLR admitted at Peking Union Medical College Hospital from 2013 to 2022. Clinical data, including demographic characteristics, lupus-related features, laboratory findings and ophthalmologic examinations, were collected and analyzed. The prognosis was evaluated based on best-corrected visual acuity and ophthalmologic outcomes. Seventeen SLE patients (32 eyes) diagnosed with PLR were included, along with a random selection of 100 SLE patients without retinopathy and 100 with retinal microvasculopathy as controls. Patients with PLR had a significantly younger age, a higher proportion of hemolytic anemia, a shorter duration of SLE, a higher SLE disease activity index-2000 (SLEDAI-2K) score, higher erythrocyte sedimentation rate (ESR) values and lower hemoglobin (HGB) values than the group without retinopathy (P < 0.05). They also had a significantly higher SLEDAI-2K score, higher ESR values and higher white blood cell values (P < 0.05) than the Microvasculopathy group. The majority of eyes (22/26, 84.62%) achieved stabilization at the last follow-up, with different therapeutic strategies, while a few (4/26, 15.38%) experienced complications or progression. This is the largest reported case series of PLR in SLE, which was associated with higher disease activity and poor visual prognosis. It was also associated with younger age, shorter SLE duration, concomitant hemolytic anemia, lower HGB and higher ESR value. Early recognition and prompt treatment are crucial for improving visual outcomes.

Sequential liquid-based cytology based on exfoliative cells of 18-gauge core needle groove to improve renal mass core needle biopsy yield: a real-world observational study.

Renal mass biopsy (RMB) has regained clinical interest in recent years due to the pursuit of individualized and precision medicine. Renal mass core needle biopsy (RMCNB) for histopathology (HP), with or without liquid-based cytology (LBC), has been used increasingly in our hospital. This study investigated factors influencing the HP diagnostic yield of RMCNB, and compared the diagnostic rate between HP alone and HP plus LBC. In this retrospective cross-sectional study, a total of 134 patients who underwent ultrasound-guided percutaneous RMCNB in the National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College between January 2015 and May 2022 were enrolled. All biopsies were performed using an 18-gauge core needle biopsy gun, and the sampling tissues and exfoliative cells of 18-gauge core needle groove were delivered for HP and LBC diagnosis, respectively. The patient demographics, clinical indications, tumor characteristics, number of biopsies, final pathological diagnosis, and follow-up data were reviewed. Univariate and multivariate logistic regression analyses were performed to evaluate the association between variables and HP diagnostic yield of RMCNB. The diagnostic rate between HP and HP plus LBC was compared using McNemar's test and agreement was evaluated using the Kappa score. The most common indication of RMCNB was renal masses with a radiological diagnosis of locally advanced disease or distant metastasis (86.6%). The HP diagnostic yield was established in 88.1% (118/134) of cases, and the diagnostic rate of HP plus LBC was 94.0% (126/134). Logistic regression analyses revealed that non-enhanced area exceeding 50% [odds ratio (OR): 0.021, 95% confidence interval (CI): 0.003-0.134, P<0.001] and number of core biopsies (OR: 9.479, 95% CI: 1.528-58.794, P=0.016) were associated with the HP diagnostic yield of RMCNB. The diagnostic rate of HP plus LBC was significantly higher than that of HP alone (94.0% vs. 88.1%, P=0.008), and they showed substantial agreement (Kappa =0.638, P<0.001). Meanwhile, in the non-enhanced area ≥50% subgroup, the diagnostic rate between HP plus LBC and HP alone was significantly different (86.7% vs. 60%, P=0.008), and the agreement was fair (Kappa =0.375, P=0.009). RMCNB has a high diagnostic yield with a minimum of two high-quality core biopsies, LBC can improve the diagnostic yield of HP alone, especially in masses with large non-enhanced area.

The Application of High-frequency Ultrasonic Imaging in Identifying Fillers in the Temporal Region.

This study aimed to evaluate the ultrasonic manifestations of diversified corium fillers in the temporal region and to provide clinicians with suggestions for diagnosis and treatment. The facial ultrasound images of 116 patients, including 110 women and six men, 20-61years of age, were analyzed at the Chinese Academy Medical Sciences and Peking Union Medical College from November 2014 to November 2021. We identified 48 cases of polyacrylamide, 31 cases of fat, 27 cases of hyaluronic acid, seven cases of hydroxyapatite, two cases of silicone oil, and one case of prosthesis. Polyacrylamide mainly showed irregular flocculent hypoechoic or fine punctate hypoechoic in ultrasound; it could be aggregated as a cystic hypoechoic area or diffused in the tissue space, and the probe could be pressurized to see the echo floating or dislocation flow. Fat mainly showed lobulated hypoechoic deposition with some hyperechoic linear intervals. Hyaluronic acid mainly showed an anechoic structure with a clear boundary, uniform internal echo, and no obvious blood flow signal. If diffused in the surrounding tissues, it was mainly characterized by anechoic or low-echo areas in the stratified tissues. Hydroxyapatite mainly showed strongly hyperechoic patch areas with posterior acoustic shadowing artifacts. Silicone oil was mostly found under the epidermis, showing a high echo in the form of clouds and causing unclear displays of deep tissue. Prosthesis showed hypoechoic prosthesis structure. High-frequency ultrasound had a certain significance in the identification of the fillers of the temporal region.

Analysis of influencing factors and clinical value of anterior peritoneal reflection for patients with rectal cancer

Objectives: To investigate the factors influencing the height of anterior peritoneal reflection (APR) for patients with rectal cancer, and to analyze the relationship between the APR and the lateral lymph node metastasis. Methods: Clinical data of 432 patients with tumor located within and below APR were retrospectively collected from the rectal cancer database at the Department of General Surgery, Peking Union Medical College Hospital from August 2020 to September 2022. Ninty-eight non-rectal cancer patients were also enrolled as a control group. There were 308 males and 124 females in the tumor group, aged (M(IQR)) 62 (16) years (range: 24 to 85 years) and 53 males and 45 females in the control group, aged 60 (22) years (range: 27 to 87 years). The APR height, pelvis, and tumor-related parameters were measured by MRI. A multifactor linear regression model was established to analyze the dependent correlation factors of APR height. These factors of the two groups were matched by propensity score matching and their APR heights were compared after matching. An ordinal Logistic regression model was established to explore the relationship between APR-related parameters and radiographic lateral lymph node metastasis. Results: The APR height of the tumor group was (98.7±14.4) mm (range: 43.3 to 154.0 mm) and the control group was (95.1±12.7) mm (range: 68.0 to 137.9 mm). Multivariable linear regression revealed that the greater the weight (B=0.519, 95%CI: 0.399 to 0.640, P<0.01), the anterior pelvic depth (B=0.109, 95%CI: 0.005 to 0.213, P=0.039) and the smaller the bi-ischial diameter (B=-0.172, 95%CI:-0.294 to -0.049, P=0.006), the higher the APR height. The tumor group had a higher APR height than the control group after propensity score matching ((98.3±14.2) mm vs. (95.1±12.7) mm, t=-1.992, P=0.047). Ordinal Logistic regression indicated that the longer segment of the tumor invade the nonperitoneal rectum was an independent influencing factor of radiographic lateral lymph node metastasis (OR=1.016, 95%CI: 1.002 to 1.030, P=0.021), while the distance between the anal verge and the tumor was not (OR=0.986, 95%CI: 0.972 to 1.000, P=0.058). Conclusions: The higher the weight, the deeper and narrower the pelvis, the higher the APR height. There is a certain relationship between APR and lateral lymph node metastasis on imaging.

Analysis of prognosis and influencing factors of No. 253 lymph node metastasis in descending colon, sigmoid colon, and rectal cancer: a multicenter study

Objectives: To analyze the influencing factors of No. 253 lymph node metastasis in descending colon cancer, sigmoid colon cancer, and rectal cancer, and to investigate the prognosis of No. 253 lymph node-positive patients by propensity score matching analysis. Methods: A retrospective analysis was performed on clinical data from patients with descending colon cancer, sigmoid colon cancer, rectosigmoid junction cancer, and rectal cancer who underwent surgery between January 2015 and December 2019 from the Cancer Hospital of the Chinese Academy of Medical Sciences, China-Japan Friendship Hospital, Peking Union Medical College Hospital, General Hospital of the Chinese People's Liberation Army, and Peking University Cancer Hospital. A total of 3 016 patients were included according to inclusion and exclusion criteria, comprising 1 848 males and 1 168 females, with 1 675 patients aged≥60 years and 1 341 patients aged<60 years. Clinical and pathological factors from single center data were subjected to univariate analysis to determine influencing factors of No. 253 lymph node metastasis, using a binary Logistic regression model. Based on the results of the multivariate analysis, a nomogram was constructed. External validation was performed using data from other multicenter sources, evaluating the effectiveness through the area under the receiver operating characteristic curve and the calibration curve. Using data from a single center, the No. 253 lymph node-positive group was matched with the negative group in a 1∶2 ratio (caliper value=0.05). Survival analysis was performed using the Kaplan-Meier method and Log-rank test. The Cox proportional hazards model was used to determine independent prognostic factors. Results: (1) The tumor diameter≥5 cm (OR=4.496,95%CI:1.344 to 15.035, P=0.015) T stage (T4 vs. T1: OR=11.284, 95%CI:7.122 to 15.646, P<0.01), N stage (N2 vs. N0: OR=60.554, 95%CI:7.813 to 469.055, P=0.043), tumor differentiation (moderate vs. well differentiated: OR=1.044, 95%CI:1.009 to 1.203, P=0.044; poor vs. well differentiated: OR=1.013, 95%CI:1.002 to 1.081, P=0.013), tumor location (sigmoid colon vs. descending colon: OR=9.307, 95%CI:2.236 to 38.740, P=0.002), pathological type (mucinous adenocarcinoma vs. adenocarcinoma: OR=79.923, 95%CI:15.113 to 422.654, P<0.01; signet ring cell carcinoma vs. adenocarcinoma: OR=27.309, 95%CI:4.191 to 177.944, P<0.01), and positive vascular invasion (OR=3.490, 95%CI:1.033 to 11.793, P=0.044) were independent influencing factors of No. 253 lymph node metastasis. (2) The area under the curve of the nomogram prediction model was 0.912 (95%CI: 0.869 to 0.955) for the training set and 0.921 (95%CI: 0.903 to 0.937) for the external validation set. The calibration curve demonstrated good consistency between the predicted outcomes and the actual observations. (3) After propensity score matching, the No. 253 lymph node-negative group did not reach the median overall survival time, while the positive group had a median overall survival of 20 months. The 1-, 3- and 5-year overall survival rates were 83.9%, 61.3% and 51.6% in the negative group, and 63.2%, 36.8% and 15.8% in the positive group, respectively. Multivariate Cox analysis revealed that the T4 stage (HR=3.067, 95%CI: 2.357 to 3.990, P<0.01), the N2 stage (HR=1.221, 95%CI: 0.979 to 1.523, P=0.043), and No. 253 lymph node positivity (HR=2.902, 95%CI:1.987 to 4.237, P<0.01) were independent adverse prognostic factors. Conclusions: Tumor diameter ≥5 cm, T4 stage, N2 stage, tumor location in the sigmoid colon, adverse pathological type, poor differentiation, and vascular invasion are influencing factors of No. 253 lymph node metastasis. No. 253 lymph node positivity indicates a poorer prognosis. Therefore, strict dissection for No. 253 lymph node should be performed for colorectal cancer patients with these high-risk factors.

Association between post-COVID-19 status and perioperative morbidity and mortality: protocol for an ambispective cohort study

IntroductionWith COVID-19 bringing persistent impact on the worldwide population, perioperative management after SARS-CoV-2 infection needs to be revisited in the new period of different circulating coronavirus variants, vaccination status, increased...

The application of ultrasound in the diagnosis of small bowel volvulus in adults

Objective: To analyze the ultrasound characteristics of small bowel volvulus among adults and to investigate the value of ultrasound in the diagnosis of small bowel volvulus. Methods: Totally 34 adults with small bowel volvulus confirmed by clinical diagnosis or surgery and who underwent ultrasound examination at Peking Union Medical College Hospital from August 2017 to October 2022 were enrolled, including 19 males and 15 females, aged (55.0±21.8) years (range: 19 to 94 years). The clinical characteristics, CT images and ultrasound images of the patients were retrospectively reviewed, and the ultra, sound features of small bowel volvulus and its diagnostic efficacy were analyzed. Results: Abdominal pain was the typical clinical symptom of all patients. Other symptoms included 21 cases of abdominal distension, 19 cases of nausea and vomiting, and 13 cases of cessation of passage of stool or flatus. Eight patients had signs of peritonitis and 22 patients had abnormal bowel sounds. Twenty patients had a history of abdominal surgery. Twenty-seven patients underwent surgery for intestinal obstruction, and the remaining 7 patients improved after conservative treatment. All cases were evaluated by ultrasound, 11 cases showed a "whirl sign" and were diagnosed as small bowel volvulus, the diagnostic accuracy rate was 32.4% (11/34), ultrasound simultaneously diagnosed intestinal obstruction in 21 cases, 17 cases of abdominal effusion, 4 cases of intestinal wall thickening, 2 cases of abdominal mass, 1 case of intussusception, 1 case of right sided inguinal hernia. CT and ultrasound had a consistent positive discovery in 88.2% (30/34) of all the patients. Conclusion: Ultrasound is valuable in the diagnosis of small bowel volvulus and the evaluation of complications.

Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.

Nucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant systemic autoinflammatory disease. We aimed to summarize the phenotypic and genotypic features of Chinese adult NLRP3-AID patients with hearing loss. A retrospective cohort study of twenty-one adult patients with NLRP3-AID was conducted in Peking Union Medical College Hospital between July 2015 and March 2023. All patients underwent whole exome sequencing and otorhinolaryngologic assessments. Clinical features and therapeutic data were collected and analysed. We found that 13/21 (61.90%) of patients had hearing loss with high-frequency impairment in the majority, and most patients presented with vestibular dysfunction as a new finding. The NLRP3-AID patients with early-onset, cold or stress triggered episodes, red eyes, fatigue, hypopsia and mutations located in the NACHT domain of the NLRP3 protein were more likely to suffer from hearing loss, especially sensorineural hearing loss, perhaps as a result of pathogenic variants of high penetrance. By a series of audiological evaluations, TNF-α inhibitors were confirmed to improve or reverse hearing loss. We reported the first cohort of Chinese adult NLRP3-AID patients with hearing loss and characterized vestibular dysfunction, highlighted the necessity for attention to high-frequency hearing and provided potential alternative treatment.

Efficacy and safety of gemcitabine plus S-1 vs. gemcitabine plus nab-paclitaxel in treatment-naïve advanced pancreatic ductal adenocarcinoma.

Gemcitabine plus nab-paclitaxel (GnP) is the standard first-line therapy for advanced pancreatic ductal adenocarcinoma (PDAC). S-1, an oral fluoropyrimidine derivative, as compared with gemcitabine, is non-inferior in terms of overall survival (OS) and is associated with lower hematologic toxicity. Accordingly, S-1 is a convenient oral alternative treatment for advanced PDAC. This study was aimed at comparing the efficacy and safety of gemcitabine plus S-1 (GS) vs. GnP as first-line chemotherapy for advanced PDAC. Patients with advanced PDAC who received first-line GS or GnP at the Peking Union Medical College Hospital between March 2011 and November 2022 were evaluated. A total of 300 patients were assessed, of whom 84 received GS and 216 received GnP. The chemotherapy completion rate was higher with GS than GnP (50.0% vs. 30.3%, P = 0.0028). The objective response rate (ORR) was slightly higher (14.3% vs. 9.7%, P = 0.35), and the median OS was significantly longer (17.9 months vs. 13.3 months, P = 0.0078), in the GS group than the GnP group. However, the median progression-free survival (PFS) did not significantly differ between groups. Leukopenia risk was significantly lower in the GS group than the GnP group (14.9% vs. 28.1%, P = 0.049). As first-line chemotherapy for advanced PDAC, the GS regimen led to a significantly longer OS than the GnP regimen. The PFS, ORR, and incidence of severe adverse events were comparable between the GS and GnP groups.

Hepatitis B virus-related cryoglobulinemia: Clinical characteristics, virological features, and treatment

BackgroundHepatitis B virus (HBV) infection is a rare etiology of cryoglobulinemia, and its clinical characteristics, virological features and treatment are poorly understood. MethodsThis retrospective study enrolled 23 patients with HBV-related cryoglobulinemia from 497 cryoglobulinemia patients at Peking Union Medical College Hospital between January 2015 and February 2023. We analyzed the clinical characteristics, virological features and management of patients with HBV-related cryoglobulinemia. ResultsThe 23 patients (13 males; median age 48 years) were all mixed cryoglobulinemia and serological HBsAg positive, while 15 patients exhibited HBV-DNA replication. The presence of HBsAg in cryoglobulins was evaluated in 7 patients, all of whom were positive. The most commonly involved organs were kidneys (69.6%), skin (65.2%), peripheral nerves (21.7%), joints (8.7%), gastrointestinal tract (4.3%), and cardiac (4.3%). Eight patients received antiviral therapy with nucleot (s)ide analogues (NAs) alone, 12 patients received NA- and corticosteroid-based regimens, and 3 patients received NA- and rituximab-based regimens based on the severity of clinical symptoms. After a median follow-up of 44 months, four patients died, and one patient was lost to follow-up. All remaining patients (n = 18) achieved clinical remission, and HBV-DNA replication was not detected in 16 out of 18 patients. There was no HBV reactivation in patients treated with rituximab. The three-year overall survival and progression-free survival were 87.0% and 80.3%, respectively. ConclusionsHBV-related cryoglobulinemia patients should be treated with antiviral therapy. Corticosteroids and rituximab are effective for severe cases, but patients need to be closely monitored for therapy-related infection.

Long-Term Prognosis of Different Subtypes of Left Ventricular Noncompaction Cardiomyopathy Patients: A Retrospective Study in China.

Left ventricular noncompaction (LVNC) is a heterogeneous cardiomyopathy that can be classified into different subtypes based on morphologic and functional features. However, the prognosis of the dilated and isolated subtypes of non-pediatric LVNC remains unknown. We retrospectively studied 101 patients with LVNC diagnosed at Peking Union Medical College Hospital from 2006 to 2022 using the Jenni criteria of transthoracic echocardiography. The patients were grouped into those with dilated LVNC (n = 64) or isolated LVNC (n = 37), and 88 patients (54 with dilated LVNC and 34 with isolated LVNC) were followed up successfully. The primary outcome was major adverse cardiovascular events (a composite of cardiovascular mortality, heart failure, severe ventricular arrhythmia, and systolic embolism). The median follow-up time was 5.24 years. The incidence of major adverse cardiovascular events was 43.2%; patients with dilated LVNC had a higher risk (adjusted hazard ratio, 4.43; 95% confidence interval, 1.24-15.81; p = 0.02) than those with isolated LVNC. None of the isolated LVNC patients had cardiovascular deaths or severe ventricular arrhythmias. The risk of systemic embolism was similar between patients with dilated and isolated LVNC. Our findings indicate that transthoracic echocardiography is a useful tool for classifying LVNC into subtypes with distinct clinical outcomes. Dilated LVNC is associated with a poor prognosis, while the isolated subtype is probably a physiological condition.

Guideline for the application of chromosomal microarray analysis in prenatal diagnosis (2023)

After the promulgation of the first edition of expert consensus on the application of chromosomal microarray analysis (CMA) technology in prenatal diagnosis in 2014, after 8 years of clinical and technical development, CMA technology has become a first-line diagnosis technology for fetal chromosome copy number deletion or duplication abnormalities, and is widely used in the field of prenatal diagnosis in China. However, with the development of the industry and the accumulation of experience in case diagnosis, the application of CMA technology in many important aspects of prenatal diagnosis, such as clinical diagnosis testimony, data analysis and genetic counseling before and after testing, needs to be further standardized and improved, so as to make the application of CMA technology more in line with clinical needs. The revision of the guideline was led by the National Prenatal Diagnostic Technical Expert Group, and several prenatal diagnostic institutions such as Peking Union Medical College Hospital were commissioned to write, discuss and revise the first draft, which was discussed and reviewed by all the experts of the National Prenatal Diagnostic Technical Expert Group, and was finally formed after extensive review and revision. This guideline is aimed at the important aspects of the application of CMA technology in prenatal diagnosis and clinical diagnosis, from the clinical application of evidence, test quality control, data analysis and interpretation, diagnosis report writing, genetic counseling before and after testing and other work specifications are elaborated and introduced in detail. It fully reflects the integrated experience, professional thinking and guidance of the current Chinese expert team on the prenatal diagnosis application of CMA technology. The compilation of the guideline for the application of CMA technology in prenatal diagnosis will strive to promote the standardization and advancement of prenatal diagnosis of fetal chromosome diseases in China.

The Triaging Effect of the Human Papillomavirus 16/18 E7 Oncoprotein Assay in HPV 16/18-Positive Patients for High-Grade Cervical Intraepithelial Neoplasia Screening: A Cross-Sectional Study.

Objective: To investigate the triaging efficacy of the human papillomavirus (HPV) 16/18 E7 oncoprotein assay for high-grade cervical intraepithelial neoplasia (CIN2+) screening in HPV 16/18-positive patients in a tertiary hospital in China. Methods: We collected 476 cervical cell samples from women who tested positive for HPV 16/18 in the gynecological clinic of Peking Union Medical College Hospital between September 2018 and September 2022 and analyzed them by the HPV 16/18 E7 oncoprotein assay before colposcopy and biopsy. The study assessed the triaging efficacy of the HPV 16/18 E7 oncoprotein assay in HPV 16/18-positive patients by analyzing its performance against the gold standard of histologically confirmed CIN2+. Results: The positive rate of the HPV 16/18 E7 oncoprotein assay was 41.0% (114/278) in the negative for intraepithelial lesions and malignancy/CIN1 group and 80.3% (159/198) in the CIN2+ group. For triage of women with a positive HPV 16/18 test for CIN2+ detection, the HPV 16/18 E7 oncoprotein assay had a sensitivity, specificity, positive predictive value, and negative predictive value of 80.3%, 59.4%, 58.5%, and 80.9%, respectively. Furthermore, longitudinal follow-up of five patients showed a good correlation between the expression of the HPV 16/18 E7 oncoprotein and cervical lesion grades. Conclusions: As a triage method for HPV 16/18-positive patients, the HPV 16/18 E7 oncoprotein assay improves the specificity, reduces the colposcopy referral rate, and has the potential for long-term monitoring of high-grade CIN.

Building a trustworthy AI differential diagnosis application for Crohn’s disease and intestinal tuberculosis

BackgroundDifferentiating between Crohn’s disease (CD) and intestinal tuberculosis (ITB) with endoscopy is challenging. We aim to perform more accurate endoscopic diagnosis between CD and ITB by building a trustworthy AI differential diagnosis application.MethodsA total of 1271 electronic health record (EHR) patients who had undergone colonoscopies at Peking Union Medical College Hospital (PUMCH) and were clinically diagnosed with CD (n = 875) or ITB (n = 396) were used in this study. We build a workflow to make diagnoses with EHRs and mine differential diagnosis features; this involves finetuning the pretrained language models, distilling them into a light and efficient TextCNN model, interpreting the neural network and selecting differential attribution features, and then adopting manual feature checking and carrying out debias training.ResultsThe accuracy of debiased TextCNN on differential diagnosis between CD and ITB is 0.83 (CR F1: 0.87, ITB F1: 0.77), which is the best among the baselines. On the noisy validation set, its accuracy was 0.70 (CR F1: 0.87, ITB: 0.69), which was significantly higher than that of models without debias. We also find that the debiased model more easily mines the diagnostically significant features. The debiased TextCNN unearthed 39 diagnostic features in the form of phrases, 17 of which were key diagnostic features recognized by the guidelines.ConclusionWe build a trustworthy AI differential diagnosis application for differentiating between CD and ITB focusing on accuracy, interpretability and robustness. The classifiers perform well, and the features which had statistical significance were in agreement with clinical guidelines.