Peking Union Medical College Hospital Research Articles

Clear cell borderline ovarian tumor: A retrospective study and literature review.

Clear cell borderline ovarian tumor is a rare subtype of borderline ovarian tumor for which the clinicopathological characteristics, management, and prognosis remain unclear. Herein, we describe the clinical features, treatment options, and prognosis of clear cell borderline ovarian tumors. This was a retrospective study of nine patients with pathologically confirmed clear cell borderline ovarian tumors treated at Peking Union Medical College Hospital between 2006 and 2023. Data regarding the patients' clinicopathological features, management, and prognosis were analyzed. We also reviewed previously published studies in English of patients with clear cell borderline ovarian tumors who underwent fertility-sparing surgery. The median age at diagnosis was 52years (range, 35-72) and the median tumor size was 6.5cm (range, 2.7-13). Seven patients had unilateral tumors and two patients had bilateral tumors. Seven patients underwent radical surgery and two patients underwent fertility-preserving surgery. All patients had stage I disease. Pathological analysis revealed synchronous endometriosis or adenomyosis in five patients. Endometrial hyperplasia with atypia was found in two of the seven patients who underwent hysterectomy. During a median follow-up time of 54months (range, 14-200), only one patient suffered a recurrence, which was treated successfully with secondary surgery. The prognosis of clear cell borderline ovarian tumors is favorable, and fertility-sparing surgery is acceptable for young patients who may desire future pregnancies. Unilateral salpingo-oophorectomy is recommended for patients in whom ovarian cystectomy was the initial surgery.

Ovarian squamous cell carcinoma: clinicopathological features, prognosis and immunotherapy outcomes.

To explore the characteristics and survival outcomes of ovarian squamous cell carcinoma (SCC) and the treatment effectiveness of immune checkpoint inhibitors (ICIs). Patients diagnosed with ovarian SCC at Peking Union Medical College Hospital between January 2000 and September 2023 were included. Overall survival (OS) and progression-free survival (PFS) were analyzed using the Kaplan-Meier method. Univariate and multivariate analysis of OS were performed using the Cox proportional hazards model. A total of 42 patients were included, with a median age of 51.5 years (range, 23-74). The majority had SCC arising from teratomas (54.8%), followed by endometriosis (14.3%) and Brenner's tumor (2.4%). Patients undergoing molecular testing exhibited a median tumor mutation burden (TMB) of 10.00 mutations/Mb (range, 7.28-46.86), predominantly featuring PIK3CA mutations. Thirty-eight patients (90.5%) received adjuvant chemotherapy. The median OS was 42.0 months, with the 1- and 5-year OS rates were 73.7% and 48.7%, respectively. And the median PFS was 26.9 months, with the 1- and 5-year PFS rates were 57.5% and 43.8%, respectively. Five patients underwent first-line postoperative adjuvant therapy combining ICIs with chemotherapy. During the 9.5 to 25.1 months follow-up, 4 patients showed no evidence of disease, while 1 relapsed and received treatment. Late-stage disease and younger age at diagnosis were associated with worse survival outcomes. The prognosis for ovarian SCC remains unfavorable. The stage and age were prognostic predictors for survival. ICIs may be beneficial for patients with ovarian SCC, particularly those with a high TMB.

Renal transplantation in patients with cryopyrin-associated periodic syndrome: A case report and literature review.

The cryopyrin-associated periodic syndrome (CAPS) is a rare autosomal dominant hereditary inflammatory disease clinically characterized by three overlapping types and associated with interleukin (IL)-1β.We reported a rare case of CAPS in a patient with accompanying symptoms such as growth retardation and urticaria-like rash. These clinical manifestations were caused by mutations in the NALP3 gene. A 28-year-old male patient, with a height of 1.3m and a weight of 33.4kg. He began to experience fever, rash, joint swelling and pain, as well as recurrent cerebral infarction, delayed growth and development, and decreased hearing, among other neuroendocrine manifestations six months after birth. After being examined at Peking Union Medical College Hospital in September 2014, a mutation in the NALP3 gene related to the encoding of Cryopyrin protein was detected,leading to a diagnosis of CAPS with a high probability of CINCA. This is a rare case of CAPS, a disease inherited in an autosomal dominant manner and associated with mutations in the NALP3 gene. Based on its clinical manifestations and severity, it can be divided into three subtypes. The clinical presentation involves autoimmune inflammatory disease, with inflammation affecting multiple organs throughout the body, including the joints, skin, face, and kidneys. Involvement of the kidneys can lead to kidney failure, which is one of its most severe complications.

Adenomyosis patterns on transvaginal sonography could predict the obstetrical outcomes of fertility-sparing surgeries: A retrospective cohort study.

To explore the associations between adenomyosis patterns on transvaginal sonography (TVS) and surgical outcomes. A retrospective cohort study. Peking Union Medical College Hospital, Beijing, China. The medical records of 322 patients diagnosed with adenomyosis who underwent open or laparoscopic fertility-sparing surgeries from March 1 to December 31, 2018, were reviewed. Patients were divided into localized (221 patients) and diffuse (101 patients) adenomyosis groups on the basis of TVS findings. Detailed epidemiological information, imaging evaluations, surgical reports, and pathological findings were retrospectively collected. The median postsurgical follow-up period was 52.8 months (range 6-88 months), with 24 patients (7.4%) lost to follow-up by July 1, 2019. The localized and diffuse adenomyosis groups had similar symptom relief and recurrent uterine lesions. Among the 104 patients who attempted pregnancy, 75 patients (72.1%) conceived, with 35 miscarriages (46.7%) and 59 live births (78.7%). For the whole cohort and the localized adenomyosis and diffuse adenomyosis groups, the cumulative 5-year conception rates were 75%, 83% and 60%, respectively; the cumulative 5-year live birth rates were 63%, 79% and 37%, respectively. The adenomyosis patterns found during sonography were the only independent risk factors related to clinical pregnancy and live birth in the Cox regression model. Patients with diffuse adenomyosis had significantly lower rates of conception (HR 0.5, 95% CI 0.3-1.0) and live birth (HR 0.4, 95% CI 0.2-0.8). Adenomyosis patterns (localized versus diffuse) in pretreatment TVS could predict obstetrical outcomes, irrespective of surgical type and uterine size. The clinical trial registry name is the Cooperative Adenomyosis Network (CAN); the registration number is NCT03230994 (https://clinicaltrials.gov). This study started on June 30, 2017, and was completed on December 30, 2020.

TERTp Mutation and its Prognostic Value in Glioma Patients Under the 2021 WHO Classification: A Real-World Study.

The 2021 WHO Classification of Central Nervous System Tumors introduces more molecular markers for glioma reclassification, including TERT promoter (TERTp) mutation as a key feature in glioblastoma diagnosis. Given the changes in the entities included in each subtype under the new classification, this research investigated the distribution, prognostic value, and correlations with other molecular alterations of TERTp mutation in different subgroups under this latest classification. All glioma patients admitted to Peking Union Medical College Hospital for surgical resection or biopsy from 2011 to 2022 were included. Samples were analyzed for TERTp mutation and 59 other gene alterations and chromosome copy number variations. A total of 207 patients were included. The occurrence of TERTp mutations varied with percentages of 4.55%, 100%, and 77.92% in astrocytoma, oligodendroglioma, and glioblastoma, respectively. 65% of all adult-type glioma patients and 42.6% of IDH-wildtype histology grade 2 or 3 patients were TERTp-mutant. Survival analysis showed that TERTp mutation was a predictor of better prognosis in IDH-mutant grade 2 gliomas (median OS (mOS): not reached (NA) (95% CI: NA-NA) vs. 75.9 (95% CI: 55.4-NA) months, HR = 0.077 (95% CI: 0.01-0.64), p = 0.003), while poor OS was associated with all Grade 4 gliomas (mOS: 17.5 (95% CI: 12.6-24.2) vs. 40.5 (95% CI: 24.4-83.8) months, HR = 2.014 (95% CI: 1.17-3.47), p = 0.01) and all IDH-wildtype histology grade 2 or 3 gliomas (median OS: 12.6 (95% CI: 11-24.2) vs. 83.8 (95% CI: 35.2-NA) months, HR = 3.768 (95% CI: 1.83-7.78), p < 0.001). Moreover, TERTp mutation tended to co-occur with EGFR, KRAS, and MET in glioblastoma. In the IDH-mutant subgroup, it tended to co-occur with CIC and FUBP1 alterations, while being mutually exclusive with ATRX and TP53 alterations. These correlations may further refine prognostic predictions.

Mortality and Survival Analysis in Patients With Cancer Occurrence After Sjögren's Syndrome: A Long-Term Cohort Study in China.

This study aimed to investigate the mortality, survival rates, and prognostic indicators of cancer occurrence after Sjögren's syndrome (SS-CA). The medical records of patients with SS-CA at the Peking Union Medical College Hospital (PUMCH) between January 2010 and August 2022 were retrieved. Clinical data and survival outcomes were compared to controls. The standard mortality ratio (SMR) versus the general population was calculated, and the survival and predictive markers of prognosis were analyzed using Kaplan-Meier curves and Cox regression. In total, 114 SS-CA patients were included, with a median follow-up time of 105.1 (57.3-168.0) months. Non-Hodgkin lymphoma (32, 28.1%) was the most common cancer in patients with SS-CA. The SMR of SS-CA patients was 2.61 (95% confidence interval [CI] 1.73-3.77). Patients with SS-CA exhibited significantly inferior outcomes compared to controls (p = 0.010), with 5- and 10-year overall survival rates of 91.2% and 83.2%, respectively. SS patients with a diagnostic interval between SS and cancer (SS-CA diagnostic interval) ≤ 3 years or with hematological malignancies had poorer survival compared to those with a diagnostic interval > 3 years (p < 0.001) or with solid tumors (p = 0.019). Multivariate Cox regression analysis identified the prognosis-associated factors of SS-CA as age at SS diagnosis > 50 years (HR 3.129, 95% CI 1.224-7.998; p = 0.017), SS-CA diagnostic interval ≤ 3 years (HR 7.754, 95% CI 1.953-30.781; p = 0.004), and hematological malignancies (HR 2.648, 95% CI 1.201-5.838; p = 0.016). Malignant comorbidities constituted a poor prognosis in patients with SS, wherein the SS-CA diagnostic interval and the types of cancer were associated with survival.

Risk factors for methotrexate treatment failure in tubal ectopic pregnancy: a retrospective cohort study

BackgroundEctopic pregnancy (EP) accounts for approximately 2% of all pregnancies, with tubal ectopic pregnancies (TEPs) being the most common type. Methotrexate (MTX) is a noninvasive and effective medical management option for TEP, but failure rates range from 10 to 36%, posing challenges in clinical practice. Identifying risk factors for MTX treatment failure is crucial to improve patient outcomes and guide clinical decision-making. This study aimed to determine the risk factors associated with MTX failure in TEP patients and support personalized treatment strategies.MethodsThis retrospective study included female patients who were diagnosed with TEP at Peking Union Medical College Hospital (PUMCH) between January 2016 and December 2022. Patients received MTX treatment initially, with dosing intervals and protocols varying according to clinical practice. MTX treatment failure was defined as the need for surgery after MTX administration. The study included two groups: patients who failed MTX treatment (n = 91) and those who succeeded in treatment (n = 268). Univariate and multivariate logistic regression analyses were performed to identify significant predictors of MTX treatment failure. A nomogram was developed to visualize the predictive factors.ResultsA total of 359 patients were included, with 268 (74.7%) succeeding with MTX and 91 (25.3%) required surgery. Specifically, 282 patients (78.6%) received 1-dose MTX, whereas 77 (21.4%) received 2-dose MTX. Univariate analysis revealed that gravidity, previous EP, gestational age, pretreatment β-human chorionic gonadotropin (β-hCG) level, number of MTX treatments, and presence of a visible yolk sac in ultrasound were significant predictors (all P < 0.05). Multivariate analysis confirmed that higher gravidity (odds ratio (OR) = 1.2487, 95% confidence interval (CI): 1.0103 – 1.5433, P = 0.040) and elevated pretreatment β-hCG levels (OR = 1.0006, 95% CI: 1.0004 – 1.0008, P < 0.001) were independent risk factors. Number of MTX treatments was a significant protective factor (OR = 0.4409, 95% CI: 0.2153 – 0.9025, P = 0.025). The nomogram incorporating these six risk factors was developed.ConclusionHigher gravidity and elevated β-hCG levels were significant predictors of MTX failure, while more MTX doses provided a protective effect. These findings underscore the importance of personalized MTX treatment strategies to improve outcomes in TEP. However, the limitations of this study, including its retrospective and single-center design, suggest that further prospective multicenter studies are needed to validate these results.Trial registrationThe trial is registered at http://www.chictr.org.cn. [registration number: ChiCTR2400081314; registration date: 2024–02-28 (prospectively registered)].

Risk of comorbidity of autoimmune liver disease in patients with inflammatory bowel disease: A single-center case-control study in China.

To investigate the prevalence of autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC), and the impact of comorbidity of AIH, PBC, and PSC on hospitalization burden in patients with inflammatory bowel disease (IBD). Inpatients admitted to Peking Union Medical College Hospital from January 1, 1998 to December 31, 2021 were included. Odds ratio (OR) and the corresponding 95% confidence interval (CI) were calculated to compare the risk of AIH, PBC, and PSC between IBD and non-IBD patients. Medical cost and length of hospitalization were compared between IBD patients with and without AIH, PBC, or PSC. Among the included 858 967 inpatients, there were 3059 patients with IBD. Additionally, there were 117 patients with AIH, 879 patients with PBC, and 35 patients with PSC, regardless of having IBD or not. Patients with IBD had a significantly higher risk of AIH (OR 4.87, 95% CI 1.20-19.71, p = 0.03) and PSC (OR 112.28, 95% CI 53.88-233.98, p < 0.01) than those without IBD. While there was no significant difference in the risk of PBC between patients with and without IBD (OR 1.60, 95% CI 0.67-3.86, p = 0.29). The medical cost of each hospitalization did not differ between IBD patients with and without AIH, PBC, or PSC. IBD patients had a higher risk of AIH and PSC. Comorbidity of AIH, PBC, or PSC has no significant effect on the average cost of each hospitalization in IBD patients.

Efficacy of multi-color near-infrared fluorescence with indocyanine green: A new imaging strategy and its early experience in laparoscopic cholecystectomy.

Near-infrared fluorescence imaging via using intravenous indocyanine green (ICG) has a wide range of applications in multiple surgical scenarios. In laparoscopic cholecystectomy (LC), it facilitates intraoperative identification of the biliary system and reduces the risk of bile duct injury. However, the usual single color fluorescence imaging (SCFI) has limitations in manifesting the fluorescence signal of the target structure when its intensity is relatively low. Moreover, surgeons often experience visual fatigue. We hypothesized that a novel imaging strategy, named multi-color fluorescence imaging (MCFI), could potentially address these issues by decreasing hepatic and background fluorescence pollution and improving biliary visualization. To investigate the novel imaging strategy MCFI in LC. This was a single-center retrospective study conducted at Peking Union Medical College Hospital, Beijing, China. Patients who underwent LC from June 2022 to March 2023 by the same surgical team were enrolled. Demographic features, clinical and surgical information were collected. The clarity, visual comfort, and effectiveness of different imaging strategies were subjectively evaluated by surgeons. A total of 155 patients were included, 60 patients were in the non-ICG group in which only bright light illuminance without ICG was applied, 60 patients were in the SCFI group, and 35 patients were in the MCFI group. No statistically significant differences were found in demographics or clinical history. Post-surgical complications were minimal in all 3 groups with no significant differences observed. MCFI improved the clarity of imaging and visual comfort. Clarity of imaging and visual comfort were improved with MCFI. MCFI improves biliary visualization and reduces liver fluorescence contamination, which supports its routine use in LC. MCFI may also be a better choice than SCFI in other clinical settings.

Protocol for evaluating physiological and psychological acclimatization mechanisms in Tibetan plateau environment: a clinical study of doctors from Peking Union Medical College Hospital.

The transition from low to high altitude environments is associated with a multifaceted series of physiological and psychological alterations that manifest over time. These changes are intricately intertwined, with physiological acclimatization primarily mediated through the regulation of hypoxia-inducible factor (HIF), which orchestrates the expression of critical molecules and hormones. This process extends to encompass the epigenome, metabolism, and other regulatory mechanisms. In the realm of psychological acclimatization, chronic hypoxia and changes in atmospheric pressure at high altitudes may contribute to decreased levels of neurotransmitters, with potential implications for mental health, particularly in relation to sleep quality. Despite significant advancements in our understanding of plateau acclimatization mechanisms in recent years, there remain many uncertain factors that necessitate further research. This study is a single-center prospective observational study. It aims to utilize a series of physiological and medical instruments in conjunction with internationally recognized physiological and psychological questionnaires to monitor the dynamic shifts in the acclimatization ability of doctors from Peking Union Medical College Hospital. The monitoring will occur at seven distinct time points: pre-departure from Beijing, 1-7 days post-arrival at the Tibetan plateau during the acute phase of plateau hypoxic stress, and during the chronic phase of plateau hypoxic stress at 2 weeks, 3 months, 6 months, 12 months of residency in Tibet, and post-return to Beijing. Concurrently, a spectrum of omics analyses will be conducted, including comprehensive genomic, proteomic, and metabolomic assessments of blood leukocytes, fecal, and oral samples.

Cluster analysis and analysis of risk factors for hereditary transthyretin amyloidosis cardiomyopathy

Objective: To explore the clinical characteristics and prognostic value in hereditary transthyretin amyloidosis cardiomyopathy (hATTR-CM) patients based on cluster analysis, and to explore the risk factors for cardiovascular composite events. Methods: This retrospective cohort study included hATTR-CM patients who were admitted to Peking Union Medical College Hospital from January 2000 to January 2024. These patients were divided into two clusters using cluster analysis, based on genetic information, demographic information and clinical information. During the follow-up period, cardiovascular composite events were defined as all-cause death and hospitalization for heart failure. Both cardiovascular composite events and all-cause death were the endpoints. Kaplan-Meier survival curves and log-rank method were used to compare the prognostic significance of cluster analysis subgroups. Univariate and multivariate Cox proportional hazard regression models were used to analyze the risk factors affecting the incidence of cardiovascular composite events. Results: A total of 43 patients were included in this study, 30 were male (69.8%). In cluster 1 (n=27), whose age of onset was (49.9±13.9) years old, 24(88.9%) of them started with neuropathy or gastrointestinal symptoms, and all clinical phenotypes were mixed type (neurological and cardiac). In cluster 2 (n=16), whose age of onset was (59.0±10.6) years old, 15(93.8%) of them started with heart failure symptoms, and 13(81.3%) were pure cardiomyopathy. During the median follow-up time of 2.6 years, a total of 16 patients (37.2%) experienced composite cardiovascular events, and a total of 12 patients (27.9%) died. Kaplan-Meier survival curves showed a significantly lower cumulative survival rate for cardiovascular composite endpoint events (log-rank P=0.04) and all-cause death (log-rank P=0.04) in cluster 2 than in cluster 1. Univariate Cox proportional hazard regression model analysis showed that hATTR-CM patients with reduced estimated glomerular filtration rate, left ventricular ejection fraction≤40%, and moderate to severe mitral regurgitation were risk factors for vascular composite events (all P<0.05). Multivariate Cox proportional hazard regression analysis showed that left ventricular ejection fraction≤40% was an independent risk factor (P<0.01). Conclusions: Cluster analysis is a valuable prediction tool on the prognostic stratification of hATTR-CM. Cluster 2, which is late-onset with onset of heart failure symptoms has a worse prognosis during follow-up period. The occurrence of composite cardiovascular events in hATTR-CM is related to left ventricular ejection fraction≤40%. Cluster analysis is helpful for clinical identification of high-risk groups.

The clinical application of endoscope holder in revision tympanoplasty surgery

The current study summarized the surgical key points and technique advantages of endoscope holder in revision tympanoplasty. Fifteen patients who underwent revision tympanoplasty using the endoscope holder between January 2023 and April 2024 at the Department of Otorhinolaryngology, Peking Union Medical College Hospital were retrospectively collected. There were 6 males and 9 females, with an average age of (37.1±13.4) years. All patients successfully completed the revision tympanoplasty under the endoscope holder. The median follow-up time was 8 months (range: 2-16 months). Postoperative otoendoscopic examinations within 2-3 weeks revealed that all patients had dry ears, with well-healed ear canal flaps and tympanic membranes. Pure tone audiometry demonstrated significant improvements in pure tone air conduction thresholds [preoperative level: (54.3±18.0) dB HL; postoperative level: (37.4±18.4) dB HL; P=0.002]. The air-bone gap (ABG) decreased from (36.7±13.9) dB HL to (22.3±13.1) dB HL after surgery, indicating a marked improvement (P=0.003). The current study suggests that the endoscope holder technique has good application effects in revision tympanoplasty.

Efficacy and safety of azathioprine in patients with Cronkhite-Canada syndrome: a case series from Peking Union Medical College Hospital

BackgroundCronkhite-Canada syndrome (CCS) is a rare non-hereditary chronic inflammatory disease characteristic of gastrointestinal polyps and ectodermal abnormalities. Corticosteroid therapy is the mainstay medication for CCS. Few studies indicated immunosuppressants might be the choices for patients with steroid refractory, steroid dependent or intolerant.AimTo examine the efficacy and safety of azathioprine (AZA) in CCS patients.MethodWe retrospectively reviewed the records of 12 CCS patients treated with azathioprine between July 2014 and October 2023 and the clinical data including demographic characteristics, treatment regimen and adverse events were subsequently collected and analyzed. The genetic variants of TPMT and NUDT15 genes were also retrospectively assessed using sanger sequencing in 11 patients.OutcomeAll patients were in active stage at baseline and 9 patients (75%) were in combination with corticosteroid. On account of the indication, 6 patients were steroid dependent or intolerant and another 6 patients needed augmentation therapy. The target dose of AZA was 1.0 to 1.5 mg/kg per day. Ten (83.3%) patients achieved clinical response, of whom 3 cases had endoscopic remission and 5 cases had endoscopic improvement respectively. Three (25%) patients suffered from pneumocystis carinii pneumonia, liver dysfunction and leukopenia, respectively, resulting in cessation of AZA in the initial 3 months. Four heterozygous missense variants of TPMT and NUDT15 were identified in four patients. One patient who had TPMT*6 and took AZA with the dose of 2.04 mg/kg per day suffered from severe leukopenia.ConclusionAzathioprine might be a good alternative medication in CCS patients who are steroid dependent or intolerant, or need augmentation therapy. The adverse events should be closely monitored especially myelosuppression and the tests of TPMT and NUDT15 genotypes before therapy may be helpful for medication guidance.

Evaluation of three rapid assays for detecting Mycoplasma pneumoniae in nasopharyngeal specimens

During the 2023 autumn–winter period in China, Mycoplasma pneumoniae (MP) infections have increased. To address this, rapid and accurate MP DNA detection methods are crucial. Three nucleic acid detection assays (Ustar, Coyote Flash10, Coyote Flash 20) that are widely used in China are currently being evaluated for their effectiveness in detecting MP DNA in nasopharyngeal specimens. Reference standard materials for MP and a total of 35 NPS collected from Peking Union Medical College Hospital were tested using the Ustar, Coyote Flash10 and Coyote Flash 20 assays to assess analytical sensitivity, analytical specificity, diagnostic performance and workflow. The assays showed differing limits of detection (LOD) based on the absolute quantification of reference standards, with LODs of 500 copies/mL for the Ustar assays and 200 copies/mL for both Coyote Flash10 and Coyote Flash 20 assays. Additionally, all three assays displayed excellently analytical specificity in detecting MP DNA.The clinical correlation analysis demonstrated that the Ustar assay exhibited a sensitivity of 90.00%, specificity of 100%, positive predictive value (PPV) of 100%, and negative predictive value (NPV) of 62.50%. In contrast, both the Coyote Flash10 and Coyote Flash 20 assays displayed perfect diagnostic accuracy with 100% sensitivities, specificities, PPVs, and NPVs. Despite variations in detection principles, sample volume, and pre-preparation among the three assays, they all had a turnaround time of less than 30 min with low-throughput processing. Overall, all three rapid nucleic acid detection assays displayed excellent clinical performance in detecting MP DNA, offering a solid foundation for the quick clinical diagnosis of MP infection.

Factors associated with early clinical remission in patients with idiopathic retroperitoneal fibrosis.

Idiopathic retroperitoneal fibrosis (IRF) is a rare autoimmune-mediated condition characterized by fibro-inflammatory tissue development around the abdominal aorta and iliac arteries. Ureteral entrapment and hydronephrosis are the most common manifestations and acute renal failure or chronic renal insufficiency may occur as the consequence. Glucocorticoids and immunosuppressants may be effective but the therapeutic response and outcome are heterogeneous and hard to predict. This study aimed to investigate the factors associated with early remission in patients with IRF. This retrospective study included 91 IRF patients who visited Peking Union Medical College Hospital between May 2013 and December 2023. Clinical data and outcomes were reviewed and time to remission calculated. Over a median follow-up of 2.63 years (IQR, 1.29-3.41), 38 patients achieved remission within six months after treatment initiation. In multivariable analysis, male gender (OR 5.297, 95%CI 1.445-19.420, p = 0.012) and higher baseline complement component 3 (C3) (OR 2.153, 95%CI 1.131-4.097, p = 0.019) levels were significantly associated with early clinical remission (≤6 months). The time to remission was negatively associated with C3 levels (r=-0.243, p = 0.014). Patients with high C3 levels (≥1.144 g/l) tended to achieve remission in a shorter time than their counterparts with low C3 levels(<1.144g/l) (p = 0.028). An effective nomogram model for predicting disease remission was constructed with gender and C3 (AUC= 0.73, 95% CI 0.62-0.84). Male gender and higher baseline C3 levels may act as potential predictors for achieving early remission in patients with IRF.

Timing of surgery for spinal deformity patients during the COVID‑19 pandemic: experience from a prospective cohort at Peking Union Medical College Hospital.

The purpose of this study was to explore the optimal timing and associated risks of spinal deformity surgery during the COVID‑19 pandemic. All consecutive surgical cases for spinal deformity between November 2022 and April 2023 were included. The population was divided into several categories according to the time from diagnosis of SARS-CoV-2 infection to the day of surgery: without infection (pre-COVID-19), infection at 0 to 4weeks (peri-COVID-19), infection at 4 to 8weeks (early post-COVID-19), and infection over 8weeks (late post-COVID-19). The primary outcome and secondary outcomes were 90-day complication rate and total hospital stay. Postoperative complications and total hospital stay were analyzed using logistic regression and linear regression models, and we simultaneously showed the results from the crude model, minimally adjusted model and fully adjusted model. In addition, we performed various sensitivity analyses. A total of 60 consecutive patients were enrolled. The overall complication rate at 90days postoperatively was 41.6% (25 of 60 patients), and the total hospital stay for all patients was (10.1 ± 3.5) days. In the fully adjusted model, compared with pre-COVID-19 patients, peri-COVID-19 patients had a 5.1-fold increased risk of postoperative complications (OR = 6.1, 95% CI 1.1-31.9, P = 0.030), early post-COVID-19 patients and late post-COVID-19 patients were at essentially equal risk. In terms of total hospital stay, compared with patients not infected with SARS-CoV-2, peri-COVID-19 patients had a 3.1-day longer hospital stay (ꞵ = 3.1, 95%CI 0.3-5.8, P = 0.032), early post-COVID-19 patients also had a 3.1-day longer hospital stay (ꞵ = 3.1, 95%CI 0.3-6.0, P = 0.032), and late post-COVID-19 patients had the similar hospital stay (ꞵ = -0.4, 95%CI -2.9-2.1, P = 0.741). Sensitivity analysis showed that the conclusions were robust. With careful preoperative screening of patients for COVID-19, spinal deformity surgery can proceed safely during the epidemic. We recommend that spinal deformity surgery be delayed in patients with COVID-19 until 8weeks after SARS-CoV-2 infection.

Analysis of the emergency standard ischemic stroke care system time points for in-hospital-onset ischemic stroke and community-onset stroke in general hospital

Objective: To analyze the treatment situation at each time node in the standard in-hospital-stroke(IHS) in the general hospital compared with that in the emergency(community)-onset stroke (COS) group. Methods: A single-center retrospective case-control study was performed.The clinical cases of acute COS group and IHS group who were treated by the same stroke green channel team at Peking Union Medical College Hospital from Jan.2021 to Apr.2024 were included. The treatment process of acute stage of stroke was divided into four time nodes (onset, recognition, admission, and treatment), and the time of each time node was compared and analyzed. Results: A total of 219 ischemic stroke cases were included, comprising 83 and 136 cases in IHS and COS groups, respectively. There were 134 male patients (61.2%) with a mean onset age of (66.3±15.1) years. IHS occurred across various departments, mainly in surgical departments(55/83, 66.2%). Of the perioperative IHS events, 93.7% (45/48) occurred after the surgery. Compared with the COS group, the IHS group showed a higher rate of post-waking stroke[11/32(34.4%) vs 18/136(13.2%), P=0.004], a lower rate of intravenous thrombolysis[9/32 (29.0%) vs 128/136 (94.8%), P0.001], and a higher rate of mechanical thrombectomy [11/32(34.4%) vs 4/136 (2.9%), P0.001].The overall median onset-CT time in the IHS group was shorter than that in the COS group[M (Q1, Q3)] [100 (59, 189)min vs 135(75, 210)min, P=0.030]. In different stages, median time from stroke onset to recognition[25(1, 140) vs 1(1, 30)min,P=0.005] and the on-site/reception CT [30 (19, 40) min vs 16 (11, 26) min, P=0.001] in the IHS group were longer than those in the COS group, while the median time from recognition to admission[30 (10, 48) min vs 76 (53, 137)min, P0.001]was shorter than that in the COS group. Conclusions: By using the standard ischemic stroke care system, the overall treatment time for IHS group is shorter than that of COS groups. However, compared with COS patients, the onset-recognition and admission to examination/treatment time was significantly prolonged for IHS patients, reflecting the need for further optimization of the standardized in-hospital stroke treatment process.

Machine Learning Models Decoding the Association Between Urinary Stone Diseases and Metabolic Urinary Profiles.

Background: Employing advanced machine learning models, we aim to identify biomarkers for urolithiasis from 24-h metabolic urinary abnormalities and study their associations with urinary stone diseases. Methods: We retrospectively recruited 468 patients at Peking Union Medical College Hospital who were diagnosed with urinary stone disease, including renal, ureteral, and multiple location stones, and had undergone a 24-h urine metabolic evaluation. We applied machine learning methods to identify biomarkers of urolithiasis from the urinary metabolite profiles. In total, 148 (34.02%) patients were with kidney stones, 34 (7.82%) with ureter stones, and 163 (34.83%) with multiple location stones, all of whom had detailed urinary metabolite data. Our analyses revealed that the Random Forest algorithm exhibited the highest predictive accuracy, with AUC values of 0.809 for kidney stones, 0.99 for ureter stones, and 0.775 for multiple location stones. The Super Learner Ensemble Method also demonstrated high predictive performance with slightly lower AUC values compared to Random Forest. Further analysis using multivariate logistic regression identified significant features for each stone type based on the Random Forest method. Results: We found that 24-h urinary magnesium was positively associated with both kidney stones and multiple location stones (OR = 1.195 [1.06-1.3525] and 1.3258 [1.1814-1.4949]) due to its high correlation with urinary phosphorus, while 24-h urinary creatinine was a protective factor for kidney stones and ureter stones, with ORs of 0.9533 [0.9117-0.996] and 0.8572 [0.8182-0.8959]. eGFR was a risk factor for ureter stones and multiple location stones, with ORs of 1.0145 [1.0084-1.0209] and 1.0148 [1.0077-1.0223]. Conclusion: Machine learning techniques show promise in revealing the links between urological stone disease and 24-h urinary metabolic data. Enhancing the prediction accuracy of these models leads to improved dietary or pharmacological prevention strategies.

The characteristics of gastric electric rhythm in obese patients

Objective: To investigate the characteristics of gastric electric rhythm in patients with obesity. Methods: Obese patients who were scheduled to undergo weight reduction surgery in Peking Union Medical College Hospital from January 2018 to February 2024 were prospectively included. According to body mass index (BMI), the patients were divided into mild-to-moderate obesity group (28 kg/m2≤BMI<40 kg/m2) and severe obesity group (BMI≥40 kg/m2). Patients who were going to complete electrogastrography (EGG) with normal BMI (18.5 kg/m2≤BMI<25 kg/m2), without upper gastrointestinal symptoms, gastrointestinal surgery history, and underlying diseases such as diabetes mellitus were included as normal BMI group. The clinical data was recorded and EGG examination and analysis were performed. The gastric electric rhythm characteristics of patients were compared among the three groups. The correlation between BMI and gastric electric rhythm parameters was analyzed. The differences of EGG parameters between obese patients with diabetes mellitus and obese patients without diabetes mellitus were compared. Results: A total of 60 obese patients were included, including 25 males and 35 females, whose age were 18.0-59.0 (27.6±6.9) years old and BMI were (41.0±7.1) kg/m2. There were 30 patients in mild-to-moderate obesity group and 30 patients in severe obesity group. Twenty-four patients were included in normal BMI group, including 11 males and 13 females, whose age were 21.0-42.0 (30.7±6.8) years old, and BMI were (22.7±3.1) kg/m2, with no difference in age and gender compared with mild-to-moderate and severe obesity groups (both P>0.05). EGG results showed that the percentage of normal slow wave before meal (43.2%±20.0%, 37.0%±16.9%, respectively, vs 74.6%±13.6%), and the percentage of normal slow wave after meal (31.6%±13.8%, 28.5%±11.3%, respectively, vs 68.5%±14.4%) in the mild-to-moderate obesity group and the severe obesity group were significantly lower than those in the normal BMI group (all P<0.001). In the mild-to-moderate obesity group, the percentage of preprandial bradycardia [M (Q1, Q3), 3.4% (0, 15.2%) vs 0 (0, 0), P<0.001], preprandial tachycardia [0 (0, 3.3%) vs 0 (0, 0), P=0.014], postprandial bradycardia [13.3% (3.3%, 20.4%) vs 0 (0, 5.2%), P<0.001] were higher than those in the normal BMI group. In severe obese group, the percentage of preprandial bradycardia [9.4% (3.1%, 13.8%) vs 0 (0, 0), P<0.001], preprandial tachycardia[0 (0, 3.7%) vs 0 (0, 0), P=0.011], postprandial bradycardia [16.7% (7.4%, 20.0%) vs 0 (0, 5.2%), P<0.001] were all higher than those in the normal BMI group. The dominant power before meal [(57.9±12.6), (65.8±9.6), respectively, vs (46.4±4.9) μv] and after meal [(63.5±13.7), (68.3±12.6), respectively, vs (50.6±6.3) μv] in mild-to-moderate obesity group and the severe obesity group were higher than those in the normal BMI group (all P<0.001). The dominant power before meal in severe obesity group was higher than that in mild-to-moderate obesity group (P=0.008), but there were no statistically significant differences in other parameters between the two groups (P>0.017, corrected significance level α=0.017). In obese patients, the dominant power was positively correlated with BMI before and after meal (r=0.47, 0.34, respectively, both P<0.05). There was no significant difference in gastric electric rhythm between obese patients with diabetes mellitus and obese patients without diabetes mellitus (P>0.05). Conclusions: Patients with obesity have lower percentage of normal slow waves before and after meal, but increased percentage of preprandial bradycardia, tachycardia and postprandial bradycardia. The dominant power of patients with obesity before and after meals were increased, which is positively correlated with BMI.

Two cases of deficiency in ELF4 gene X-linked and literature review

Objective: To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX). Methods: A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024. And literature up to April 2024 was searched from the PubMed database, as well as CNKI and Wanfang databases, using keywords such as "ELF4 deficiency" "deficiency in ELF4, X-linked""ELF4 gene". The main clinical manifestations and genotypes of DEX were summarized. Results: Both patients were male, with onset ages of 3 months and 3 years, respectively. Both patients presented with recurrent oral ulcers and abdominal pain. And the laboratory examination showed a significant increase in inflammatory markers. Intestinal examinations showed multiple intestinal ulcers, and both patients developed intestinal fistulas. Whole exome sequencing found ELF4 c.799C>T, p Arg267Trp and ELF4 c. 248-7G>A, both maternal variants. Based on clinical and genetic results, DEX were diagnosed. In terms of treatment, both patients underwent surgical treatment during the acute phase of the disease and received anti-tumor necrosis factor α therapy, but recurrent gastrointestinal symptoms were still observed in Patient 1, while the clinical effect in Patient 2 was still acceptable. However, the inflammatory markers in both patients were not normal even after treatment. Literature review found 18 patients including 2 patients in this study, reported in 5 English articles and no Chinese reports. Thirteen patients had disease onset age before 5. The main clinical manifestations were fever (12/17), oral ulcers (14/18), abdominal pain (8/18), diarrhea (6/18), perianal ulcers (5/17), ileum ulcers (6/16), colon ulcers (7/16), skin involvement (7/17) and recurrent infections (7/18); laboratory examinations found increased erythrocyte sedimentation rate (13/15) as well as C-reactive protein (9/9), and anemia (13/15); in terms of immunological function, there is a decrease in natural killer cells (9/15) as well as a decrease in class switching memory B cells (8/9). The main types of gene variantions were missense variantions (6/18), nonsense variantions (4/18) or frameshift variantions (3/18). Conclusions: DEX should be considered when an early-onset male patient manifested with recurrent fever, oral ulcers or mucosal ulcers, with elevated inflammatory markers, with or without recurrent infection. It is recommended to perform lymphocyte subsets analysis, gastrointestinal endoscopy and genetic testing to support the diagnosis.