Objective:To investigate the genetic mutation characteristics of patients with bilateral macronodular adrenocortical disease（BmacAD）and to analyze the clinical phenotypes and adrenal nodule transcriptomic profiles associated with different genotypes.Methods:This retrospective study analyzed the clinical data of 37 patients diagnosed with BmacAD by clinical and pathological assessment who underwent surgery at Peking Union Medical College Hospital from January 2001 to December 2024. Data included symptoms and signs related to hypercortisolism，24-hour urinary free cortisol，plasma adrenocorticotropic hormone（ACTH），and overnight low-dose dexamethasone suppression test results. Whole-exome sequencing（WES）was performed on frozen adrenal hyperplasia tissue samples from surgical specimens and matched frozen residual blood samples for all patients to screen for germline and somatic mutations. Sanger sequencing was used to validate some of the identified mutations. The relation between genetic mutations and clinical features was analyzed. Transcriptome sequencing of the hyperplastic tissues was conducted，and unsupervised clustering，differential gene expression analysis，and pathway enrichment analysis were used to compare the transcriptomic profiles of patients with different genotypes.Results:A total of 37 cases were included（23 males and 14 females），aged between 31?68 years old. Among the patients with available clinical data，most exhibited signs of hypercortisolism，including hypertension（100.0%，36/36），diabetes（50.0%，18/36），and centripetal obesity（55.9%，19/34），accompanied by relevant endocrine abnormalities such as elevated 24-hour urinary free cortisol（79.4%，27/34），suppressed ACTH（77.8%，28/36），and a positive overnight low-dose dexamethasone suppression test（45.2%，14/31）. WES and Sanger sequencing revealed that ARMC5 gene mutations were the most common. Among the 37 patients，33（89.2%）had ARMC5 germline mutations，and 31（83.8%）concurrently harbored ARMC5 somatic mutations，including 3 cases of loss of heterozygosity. Two patients without detectable ARMC5 mutations both carried a somatic p.S45P mutation in the CTNNB1 gene and neither had typical manifestations of hypercortisolism. Transcriptome sequencing results suggested that patients with ARMC5 mutations had an upregulation of pathways related to steroid secretion.Conclusions:The majority of BmacAD patients present with typical manifestations of hypercortisolism，while a minority exhibit only mild autonomous cortisol secretion without obvious symptoms. Biallelic inactivation of the ARMC5 gene is the primary genetic driver of this disease，leading to more severe hypercortisolism by upregulating steroid hormone secretion. CTNNB1 mutations may be involved in the pathogenesis of some patients without ARMC5 mutations.

Objective:To investigate the genetic mutation characteristics of patients with bilateral macronodular adrenocortical disease（BmacAD）and to analyze the clinical phenotypes and adrenal nodule transcriptomic profiles associated with different genotypes.Methods:This retrospective study analyzed the clinical data of 37 patients diagnosed with BmacAD by clinical and pathological assessment who underwent surgery at Peking Union Medical College Hospital from January 2001 to December 2024. Data included symptoms and signs related to hypercortisolism，24-hour urinary free cortisol，plasma adrenocorticotropic hormone（ACTH），and overnight low-dose dexamethasone suppression test results. Whole-exome sequencing（WES）was performed on frozen adrenal hyperplasia tissue samples from surgical specimens and matched frozen residual blood samples for all patients to screen for germline and somatic mutations. Sanger sequencing was used to validate some of the identified mutations. The relation between genetic mutations and clinical features was analyzed. Transcriptome sequencing of the hyperplastic tissues was conducted，and unsupervised clustering，differential gene expression analysis，and pathway enrichment analysis were used to compare the transcriptomic profiles of patients with different genotypes.Results:A total of 37 cases were included（23 males and 14 females），aged between 31?68 years old. Among the patients with available clinical data，most exhibited signs of hypercortisolism，including hypertension（100.0%，36/36），diabetes（50.0%，18/36），and centripetal obesity（55.9%，19/34），accompanied by relevant endocrine abnormalities such as elevated 24-hour urinary free cortisol（79.4%，27/34），suppressed ACTH（77.8%，28/36），and a positive overnight low-dose dexamethasone suppression test（45.2%，14/31）. WES and Sanger sequencing revealed that ARMC5 gene mutations were the most common. Among the 37 patients，33（89.2%）had ARMC5 germline mutations，and 31（83.8%）concurrently harbored ARMC5 somatic mutations，including 3 cases of loss of heterozygosity. Two patients without detectable ARMC5 mutations both carried a somatic p.S45P mutation in the CTNNB1 gene and neither had typical manifestations of hypercortisolism. Transcriptome sequencing results suggested that patients with ARMC5 mutations had an upregulation of pathways related to steroid secretion.Conclusions:The majority of BmacAD patients present with typical manifestations of hypercortisolism，while a minority exhibit only mild autonomous cortisol secretion without obvious symptoms. Biallelic inactivation of the ARMC5 gene is the primary genetic driver of this disease，leading to more severe hypercortisolism by upregulating steroid hormone secretion. CTNNB1 mutations may be involved in the pathogenesis of some patients without ARMC5 mutations.

Objective:To analyze the clinical characteristics and risk stratification of 182 patients with acute pulmonary embolism (APE), and to investigate the correlation of neutrophil (N)/lymphocyte (L) ratio (NLR) and risk stratification/prognosis.Methods:The clinical data of 182 APE patients admitted to Peking University People’s Hospital from January 2015 to March 2021 were retrospectively collected, including age, sex, symptoms and signs, blood pressure, blood gas analysis, blood routine parameters, cardiac biomarkers, coagulation parameters, and right ventricular imaging parameters. The patients were divided into groups according to the risk stratification at admission and prognosis in hospital. χ2 test, t test or nonparametric test were used to analyze the differences in clinical characteristics, blood routine parameters, blood gas analysis, coagulation parameters and other parameters between the groups. Multivariate logistic regression analysis was used to study the independent risk factors for the prognosis of APE. Results:Among the 182 patients, 79 were male and 103 were female, 23 were in the high-risk group, 51 were in the intermediate-high-risk group, 46 were in the intermediate-low risk group, and 62 were in the low-risk group. There were 27 deaths and 155 survivors. The respiratory rate of the high/intermediate-high-risk group was significantly higher than that of the low/intermediate-low-risk group. Compared with the other three groups, pH, oxygen partial pressure (PO 2) and blood oxygen saturation (SO 2) in the high-risk group were significantly lower ( both P<0.05). There were statistically significant differences in WBC, N, and NLR levels between the high/intermediate-high-risk group and low/intermediate-low-risk group ( both P<0.05). However there were no significant differences in PLT, PLT/MPV, PLT/PDW, and coagulation related parameters PT, FIB, APTT and D-D between groups (all P > 0.05). MPV and PDW were only significantly different between the low-risk group, intermediate-low-risk group and high-risk group ( both P<0.05). Multivariate logistic regression analysis showed that NLR ( OR=1.179,95% CI:1.029-1.410, P=0.039) and PH ( OR=1.156,95% CI:1.031-1.522, P=0.041) were independent predictors of in-hospital mortality. The ROC curve was used to analyze the predictive value of NLR for in-hospital mortality. When the cutoff value of NLR was 8.38, the AUC of NLR was 0.824 (95% CI: 0.829-0.913), the corresponding sensitivity was 0.831, and the specificity was 0.887. Conclusions:NLR is correlated with risk stratification and prognosis of APE, and is an independent risk factor for poor prognosis.

Objective To investigate the status of Helicobacter pylori and “Helicobacter macacae” infection in rhesus and cynomolgus monkeys in China.Methods With the use of 16S rRNA specific primers for Helicobacter spp and Helicobacter pylori ( HP ) from published literatures, and new 16S rRNA specific primers designed for “Helicobacter macacae” ( HM ) , we investigated the infection status of these two Helicobacter spps in both of 45 rhesus and 90 cynomolgus monkeys by qPCR or conventional PCR on stool samples.Results All three primer sets for 16S rRNA exhibited excellently sensitivity and specificity.Both the infection rates of HP and HM were 100% among 45 young adult rhesus monkeys.The infection rate of HP and HM in 90 young adult cynomolgus monkeys were 100% and 97.8%, respectively.Conclusions Helicobacter pylori and “Helicobacter macacae” are present in almost every artificially bred adult rhesus and cynomolgus individuals which may adversely affect the health of laboratory monkeys and the accuracy of related animal experiments.

Objective To investigate the effects of ulinastatin on the myocardial injury in patients undergoing live donor liver transplantation.Methods Forty patients (AHA classification grade A or B),aged 40-64 yr,with a body mass index of 18-25 kg/m2,scheduled for live donor liver transplantation,were randomly divided into 2 groups ( n =20 each):control group (group C) and ulinastatin group (group U).Anesthesia was induced with midazolam,sufentanil,and cisatracurium besilate.The patients were tracheal intubated and mechanically ventilated.Ulinastatin 300 000 IU in 100 ml of normal saline was infused intravenously over 30 min after anesthesia induction and then the infusion was repeated at 4 h interval until the end of operation in group U,while the equal volume of normal saline was given in group C.Blood samples were taken from the central vein immediately before skin incision (T0,baseline),at 30 min of anhepatic phase (T1),at 30 min of neohepatic phase (T2),and at 0,4 and 24 h after operation (T3-5) for determination of the concentrations of serum cardiac troponin Ⅰ (cTnI),creatine kinase-MB (CK-MB) and N-terminal pro-brain natriuretic peptide (NT-proBNP).The changing rates of cTnI and CK-MB at T1-5 were calculated.The use of cardiovascular drugs and cardiovsscular accidents were recorded during operation.Results The serum cTnI,CK-MB and NT-proBNP concentrations were significantly higher at T2-5 than at T0 in the two groups ( P ＜ 0.05).Compared with group C,the serum cTnI,CK- MB and NT-proBNP concentrations at T2-5 were significantly deceased in group U ( P ＜ 0.05).The maximal changing rates of cTnI,CK-MB and NT-proBNP concentrations were 4.71 ± 1.62,6.85 ± 1.53 and 4.96 ± 1.23 respectively in group C,decreased to 3.26 ± 1.51,4.56 ± 1.62 and 3.67 ± 1.02 respectively in group U.There was no significant difference in the incidence of cardiovascular accidents and the use of dopamine between the two groups.Conclusion Intravenous infusion of ulinastatin can attenuate the myocardial injury to some extent in patients undergoing live donor liver transplantation.