Large Chinese Cohort Research Articles

The markers and risk stratification model of intracranial aneurysm instability based on large Chinese cohort

The markers and risk stratification model of intracranial aneurysm instability based on large Chinese cohort

The relationship of cardiovascular disease risk, clozapine antipsychotic use and cognitive function in a large Chinese schizophrenia cohort

ObjectiveThis study explores the intricate relationship between clozapine use, cardiovascular disease (CVD) risk, and cognitive function in patients with schizophrenia (SCZ). MethodsA cohort comprising 765 patients was stratified based on clozapine usage. Data on demographics, clinical characteristics, and glycolipid metabolism were collected. The Framingham Risk Score and vascular age were calculated using gender-specific Cox regression calculators. Cognitive function was assessed with the Repeatable Battery for Assessment of Neuropsychological Status. ResultsAmong the patients, 34.6 % were clozapine users. Clozapine users exhibited lower systolic blood pressure, high-density lipoprotein cholesterol and total cholesterol (all ps < 0.05). Furthermore, clozapine users exhibited higher PANSS scores, along with lower scores in RBANS scores (all ps < 0.05). Correlation analysis revealed positive correlation between CVD risk in non-clozapine users and negative symptom scores (r = 0.074, p = 0.043), and negative correlation with positive symptom scores and RBANS scores (r = −0.121, p = 0.001; r = −0.091, p = 0.028). Multivariate stepwise regression analysis indicated that attention scores as predictive factors for increased CVD risk in clozapine users (B = −0.08, 95 %CI = −0.11 to −0.03, p = 0.003). ConclusionsPatients with SCZ using clozapine exhibit more severe clinical symptoms and cognitive impairments. Attention emerges as a predictor for increased CVD risk in clozapine users.

The presence of coexisting ICA occlusion (ICAO) is the main associated factor of posterior cerebral artery (PCA) aneurysm rupture

BackgroundPosterior cerebral artery (PCA) aneurysms are rare but clinically significant due to their critical location and complex management. The risk factor of the PCA aneurysms rupture remains unclear. This study aimed to investigate the associated factor of PCA aneurysms rupture in a large Chinese cohort. MethodsWe conducted a cross-sectional study including patients diagnosed with PCA aneurysms between January 2017 and December 2020. The study population comprised 143 patients, with 95 in the ruptured group and 48 in the unruptured group. Data on demographic characteristics, aneurysm features, medical history, and treatment outcomes were collected and analyzed using SPSS 27.0. Univariate and multivariate logistic regression analyses were performed to identify associated factors for PCA aneurysm rupture. ResultsThe presence of coexisting ICA occlusion (ICAO) was identified as an independent associated factor for PCA aneurysm rupture (odds ratio [OR] = 4.74, 95% confidence interval [CI] 1.22-18.42, p=0.03). Ischemic stroke (OR=0.44, 95% CI: 0.20-0.97, p=0.02) and multiple aneurysms (OR=0.41, 95% CI: 0.19-0.87, p=0.04) were found to be potential protective factors against rupture. The study also revealed a higher incidence of ICAO in the ruptured group (18.9%) compared to the unruptured group (6.3%), indicating a significant association with aneurysm rupture. ConclusionsThis is the first multicenter study to highlight the coexistence of ICAO as a major associated factor for PCA aneurysm rupture in the Chinese population.

The association between handgrip strength and metabolic syndrome: A large prospective Chinese cohort study

ObjectivesMany studies have explored the association between handgrip strength and metabolic syndrome; however, the findings are inconsistent due to the different types of indicators used to assess handgrip strength (absolute vs. relative handgrip strength). This prospective cohort study aimed to simultaneously investigate the associations of both absolute and relative handgrip strength with metabolic syndrome, and to compare the predictive abilities of these two measures among Chinese adults. MethodsCox proportional hazards regression models were used to analyze 15,820 participants (49.7 % men) living in Tianjin, China. Handgrip strength was measured using a handheld dynamometer. Relative handgrip strength was normalized to body weight (kg). ResultsDuring the 6-year follow-up, there were 3385 incident cases of metabolic syndrome. The fully adjusted hazards ratios (95 % confidence interval) of the incidence of metabolic syndrome for increasing quartiles of relative handgrip strength were: 1.000 (reference), 0.871(0.780, 0.973), 0.675(0.602, 0.757), 0.454(0.401, 0.513) in men and 1.000 (reference), 0.830(0.714, 0.966), 0.561(0.471, 0.668), and 0.369(0.301, 0.452) in women (both P for trend <0.0001). The optimal cut-off of relative handgrip strength to predict incident metabolic syndrome was 0.563 kg/kg in men (sensitivity = 64.3 %, specificity = 55.6 %) and 0.436 kg/kg in women (sensitivity = 57.0 %, specificity = 69.3 %). ConclusionsThis large cohort study showed that higher relative handgrip strength, but not absolute handgrip strength, was associated with a lower risk of metabolic syndrome. Although handgrip strength may not be highly sensitive in screening for metabolic syndrome, it remains a valuable predictive tool due to its convenience, ease of measurement, and cost-effectiveness.

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.

This study aimed to present the genetic profile of a rare ocular disease nanophthalmos (NO) in a large Chinese cohort, to explore its genetic characteristics and genotype-phenotype correlations. A total of 43 unrelated pedigrees diagnosed with NO were recruited. Whole exome sequencing and copy number variation analysis were performed, followed by validation and pathogenicity classification of the detected variants. The overall genetic diagnostic rate was 60.5%. Twenty-eight unique genetic variants of MFRP, PRSS56, and MYRF have been identified, of which 19 were reported for the first time. The c.1486G>A variant in MFRP and the c.1066dupC variant in PRSS56 were the two most frequent variants. Patients with variants in MFRP or PRSS56 tended to possess shorter axial lengths than those with MYRF variants. Among patients with MFRP null variants, a higher proportion developed uveal effusion syndrome (UES) than did those without null variants, whereas among patients with PRSS56 null variants, a greater number of patients developed angle-closure glaucoma (ACG). A higher proportion of MFRP-related NO patients developed both UES and ACG. MFRP, PRSS56, and MYRF account for the majority of genetic causes of NO. MFRP-related NO patients tend to exhibit a strong predisposition to complications. Null variants in MFRP and PRSS56 may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.

Why do patients with pheochromocytomas/paragangliomas exhibit significantly inconsistent elevation of catecholamines and their metabolites? a large Chinese cohort study.

Inconsistent elevation of catecholamines (CAs) and metanephrines (MNs) was observed in pheochromocytomas/paragangliomas (PPGLs). This study aimed to explore its potential causes and report the diagnostic efficacy of MNs and CAs in a large Chinese PPGL cohort. Clinical data and results of hormone tests were retrospectively collected. The sensitivity of plasma MNs and 24h-urinary CAs was analyzed. Clinical characteristics were compared between patients with positive and negative biochemical results, and among those with inconsistent elevation of MNs and CAs. Seven hundred and three patients were included, with a median onset age of 41.0 years. Plasma MNs (93% ~ 99%) showed prior diagnostic sensitivity to 24h-urinary CAs (74% ~ 89%). Patients with negative biochemical results presented as a smaller tumor (1.7 cm vs. 4.3 cm, P = 0.001), a higher proportion of normal blood pressure (60.0% vs. 20.5%, P = 0.002) and negative 131I-meta-iodobenzylguanidine (131I-MIBG) imaging (55.6% vs. 17.3%, P = 0.012). An earlier age of onset (40.0 vs. 41.0 vs. 44.5 years, P = 0.025), a higher proportion of paroxysmal hypertension (36.5% vs. 29.2% vs. 32.2%, P = 0.005) and the Epinephrine secretion type (79.3% vs. 37.7% vs. 48.0%, P < 0.001) were found in patients with the ratio of MNs/CAs elevation multiples <0.5 than those with the ratio between 0.5 and 2 or >2. Plasma MNs exhibited a superior sensitivity than 24-h-urinary CAs in the Chinese PPGL diagnosis. Patients with a small tumor, normal blood pressure and negative 131I-MIBG imaging were prone to express negative biochemical levels. Additionally, an obvious elevation of 24-h-urinary CAs than plasma MNs was correlated to paroxysmal hypertension and the Epinephrine type.

Penile circumference in the Chinese population measured by Rigiscan

Background: This study aimed to assess the penile circumference in its flaccid and erect states using a Rigiscan monitoring device and Audiovisual Sexual Stimulation (AVSS) within a large Chinese male cohort to establish an objective standard. Methods: 1,134 men participated between January 2019 and June 2021. 803 men, achieving a hardness of 80% or more, were included. Circumferences of the penis’ base and tip in its flaccid and erect states were documented, and averages were compared across age groups and Chinese regions. Age-related correlations were explored. Results: Flaccid penile base and tip averaged 7.25 ± 0.60 cm and 7.20 ± 0.71 cm. At 80% erection, they were 9.70 ± 0.65 cm and 9.65 ± 0.75 cm. The increase in circumference from flaccid to 80% erect for the base and tip was approximately 25.31% and 25.47%, respectively. Correlations between flaccid and erect states were significant (tip: R = 0.807, base: R = 0.828, both p < 0.01). No significant age or regional variations in penile circumference were found. Conclusion: Our data on 803 subjects measured with Rigiscan showed that penile circumferences in flaccid and erect states show a strong correlation, in Chinese population. Penile size does not seem significantly influenced by age or region.

Childhood and adolescent essential thrombocythemia and prefibrotic primary myelofibrosis: insights into diagnosis, outcomes, and treatment from a large Chinese cohort.

The paucity of essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF) in individuals younger than 18 years highlights several unresolved issues in diagnosis, clinical outcomes, and treatment strategies. To address these knowledge gaps, we analyzed a large bidirectional cohort consisting of childhood and adolescent ET (CAA-ET, n = 156) and pre-PMF (CAA-preMF, n = 13), as well as adult ET (n = 349). We introduced immunophenotypic abnormalities as novel clonal markers in CAA-ET and CAA-preMF, establishing a comprehensive method for clonal marker detection that integrated driver and non-driver mutations, positive endogenous erythroid colony formation, immunophenotypic abnormalities, and chromosomal aberrations. Next-generation sequencing revealed distinct mutational profiles between CAA-ET and adult ET, along with different age-related trends in the distribution of driver mutations. Venous thrombosis was more prevalent in CAA-ET, with JAK2 V617F emerging as a potential risk factor (P = 0.018). Immunophenotypic abnormalities were identified as risk factors for disease progression (P = 0.027). Significant differences between expected and actual treatment practices were identified. Compared to CAA-ET, CAA-preMF demonstrated poorer progression-free survival (P < 0.001) and faster disease progression (P = 0.019). This study provides a critical foundation for refining diagnostic, prognostic, and therapeutic approaches for CAA-ET and CAA-preMF.

Deep Contrast Clustering Analysis to Distinguish Diabetic Complications in Elderly Chinese Patients.

To establish an innovative clustering method for predicting variable categories of diabetic complications in Chinese ≥65 with diabetes. We selected and extracted data from elderly patients with diabetes (n=4980) from a medical examination group of 51,400 people followed up annually from 2014 to date in Kunshan, China. A deep contrast clustering approach was used to cluster and predict diabetic complications. The clustering approach was further validated using data from elderly patients with diabetes (n=397) from one medical examination cohort of 20,000 people followed up yearly from 2014 to date in Beijing Jiuhua Hospital. The patients were clustered into 6 categories by analysing 20 indicators. Cluster 1-Heavy smoking and a high cardiovascular disease (CVD) risk; Cluster 2-High alcohol consumption, high aminotransferase levels, the highest risk of stroke complications, and a high fatty liver disease (FLD) risk; Cluster 3-High blood lipid levels and a risk of FLD and stroke complications; Cluster 4-Good health indicators and a low risk of FLD, stroke, and CVD complications; Cluster 5-Older age, higher uric acid concentration and creatinine level, and the highest risk of CVD complications; Cluster 6-Large waist circumference, high BMI, high blood pressure, and the highest risk of FLD complications. The gene for nonalcoholic fatty liver disease in cluster 2 had the highest risk coefficient. This was consistent with cluster 2, which had a higher FLD prevalence. A new clustering method was developed from two large Chinese cohorts of older patients with diabetes, which may effectively predict complications by clustering into different categories.

Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.

Frontotemporal dementia (FTD) is characterized by phenotypic and genetic heterogeneities. However, reports on the large Chinese FTD cohort are lacking. Two hundred forty-eight patients with FTD were enrolled. All patients and 2010 healthy controls underwent next generation sequencing. Plasma samples were analyzed for glial fibrillary acidic protein (GFAP), α-synuclein (α-syn), neurofilament light chain (NfL), and phosphorylated tau protein 181 (p-tau181). Gene sequencing identified 48 pathogenic or likely pathogenic mutations in a total of 19.4% of patients with FTD (48/248). The most common mutation was the C9orf72 dynamic mutation (5.2%, 13/248). Significantly increased levels of GFAP, α-syn, NfL, and p-tau181 were detected in patients compared to controls (all p<0.05). GFAP and α-syn presented better performance for diagnosing FTD. We investigated the characteristics of phenotypic and genetic spectrum in a large Chinese FTD cohort, and highlighted the utility of plasma biomarkers for diagnosing FTD. This study used a frontotemporal dementia (FTD) cohort with a large sample size in Asia to update and reveal the clinical and genetic spectrum, and explore the relationship between multiple plasma biomarkers and FTD phenotypes as well as genotypes. We found for the first time that the C9orf72 dynamic mutation frequency ranks first among all mutations, which broke the previous impression that it was rare in Asian patients. Notably, it was the first time the C9orf72 G4C2 repeat expansion had been identified via whole-genome sequencing data, and this was verified using triplet repeat primed polymerase chain reaction (TP-PCR). We analyzed the diagnostic accuracy of four plasma biomarkers (glial fibrillary acidic protein [GFAP], α-synuclein [α-syn], neurofilament light chain [NfL], and phosphorylated tau protein 181 [p-tau181]) at the same time, especially for α-syn being included in the FTD cohort for the first time, and found GFAP and α-syn had the highest diagnostic accuracy for FTD and its varied subtypes.

Clinical and Genetic Characteristics of Early-Onset Lung Adenocarcinoma in a Large Chinese Cohort

BackgroundThe characteristics of early-onset lung adenocarcinoma (EOLA) have not been extensively studied. Our research aimed to comprehensively assess the clinical and genetic features of EOLA. MethodsWe conducted a retrospective analysis of surgically resected lung adenocarcinoma patients, categorizing them into the EOLA group (aged <40 years) and the late-onset lung adenocarcinoma (LOLA) group (aged >60 years). A comparative investigation of clinical, germline, and genomic features was conducted. Propensity score matching was used to balance baseline characteristics for gene mutation analysis. ResultsWe enrolled 487 EOLA and 2507 LOLA patients. EOLA patients exhibited a higher female-to-male ratio (2.55 vs 1.19) and a higher proportion of family history of lung cancer in the ground-grass opacity subgroup (12.7% vs 8.9%). The EOLA group exhibited higher rates of earlier stage in the ground-grass opacity subgroup and solid subgroup. Preinvasive adenocarcinoma was the dominant histologic subtype in the EOLA group within the ground-glass opacity subgroup (73.8% vs 25.6%). After propensity score matching, we analyzed 241 stage 0/I patients with available genetic test results. Significant disparities in gene mutation rates emerged between the EOLA and LOLA patients, including Erb-B2 receptor tyrosine kinase 2 (ERBB2; 38.0% vs 2.8%), epidermal growth factor receptor (EGFR; 36.0% vs 64.5%), MET (0.0% vs 7.1%), neurofibromin 1 (NF1; 0.0% vs. 5.7%), and anaplastic lymphoma kinase (ALK) fusion (10.0% vs 1.4%). ConclusionsEOLA patients exhibited distinct clinical and genetic characteristics compared with LOLA patients.

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

Background and objectivesCongenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray analysis (CMA) in fetuses with different types of CHD, aiming to assist genetic counseling and clinical decision-making.MethodsIn this study, 642 fetuses with CHD were enrolled from a single center over a six-year period (2017–2022). Both conventional karyotyping and CMA were performed simultaneously on these fetuses.ResultsThe diagnostic yield of CMA in fetuses with CHD in our study was 15.3% (98/642). Our findings revealed a significant increase in the diagnostic yield of CMA compared to karyotyping in fetuses with CHD. Among CHD subgroups, the diagnostic yields were high in complex CHD (34.9%), conotruncal defects (28.6%), right ventricular outflow tract obstructive defects (RVOTO) (25.9%), atrioventricular septal defects (AVSD) (25.0%) and left ventricular outflow tract obstructive defects (LVOTO) (24.1%), while those in other CHD (10.6%) and septal defects (10.9%) were relatively low. The overall detection rate of clinically significant chromosomal abnormalities was significantly higher in the non-isolated CHD group compared to the isolated CHD group (33.1% vs. 9.9%, P < 0.0001). Interestingly, numerical chromosomal abnormalities were more likely to occur in the non-isolated CHD group than in the isolated CHD group (20.3% vs. 2.0%, P < 0.0001). The rate of termination of pregnancy (TOP)/Still birth in the non-isolated CHD group was significantly higher than that in the isolated CHD group (40.5% vs. 20.6%, P < 0.0001). Compared to the isolated CHD group, the detection rate of clinically significant chromosomal abnormalities was significantly higher in the group of CHD with soft markers (35.6% vs. 9.9%, P < 0.0001) and in the group of CHD with additional structural anomalies (36.1% vs. 9.9%, P < 0.0001).ConclusionsCMA is a reliable and high-resolution technique that should be recommended as the front-line test for prenatal diagnosis of fetuses with CHD. The prevalence of chromosomal abnormalities varies greatly among different subgroups of CHD, and special attention should be given to prenatal non-isolated cases of CHD, especially those accompanied by additional structural anomalies or soft markers.

Exploring age and gender disparities in cardiometabolic phenotypes and lipidomic signatures among Chinese adults: a nationwide cohort study

Abstract Understanding sex disparities in modifiable risk factors across the lifespan is essential for crafting individualized intervention strategies. We aim to investigate age-related sex disparity in cardiometabolic phenotypes in a large nationwide Chinese cohort. A total of 254,670 adults aged 40 years or older were selected from a population-based cohort in China. Substantial sex disparities in the prevalence of metabolic diseases were observed across different age strata, particularly for dyslipidemia and its components. Generalized additive models were employed to characterize phenotype features, elucidating how gender differences evolve with advancing age. Half of the 16 phenotypes consistently exhibited no sex differences, while four (high-density lipoprotein [HDL] cholesterol, apolipoprotein A1, diastolic blood pressure, and fasting insulin) displayed significant sex differences across all age groups. Triglycerides, apolipoprotein B, non-HDL cholesterol, and total cholesterol demonstrated significant age-dependent sex disparities. Notably, premenopausal females exhibited significant age-related differences in lipid levels around the age of 40–50 years, contrasting with the relatively stable associations observed in males and postmenopausal females. Menopause played an important but not sole role in age-related sex differences in blood lipids. Sleep duration also had an age- and sex-dependent impact on lipids. Lipidomic analysis and K-means clustering further revealed that 58.6% of the 263 measured lipids varied with sex and age, with sphingomyelins, cholesteryl esters, and triacylglycerols being the most profoundly influenced lipid species by the combined effects of age, sex, and their interaction. These findings underscore the importance of age consideration when addressing gender disparities in metabolic diseases and advocate for personalized, age-specific prevention and management.

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

This study aims to evaluate the genetic and phenotypic characteristics and elucidate the genotype-phenotype correlations of a large Chinese cohort with PAX6-related disorders. Variants detected with exome sequencing were filtered through multistep bioinformatic and co-segregation analyses, and validated by Sanger sequencing. The related clinical data were collected, and cluster analysis and statistical analysis of the PAX6-related phenotypes across different variant groups were carried out. Parental mosaicism was investigated using cloning analysis and Droplet digital PCR. A total of 119 pathogenic or likely pathogenic PAX6 variants, including 74 truncation, 31 missense, and 14 others, were identified in 228 patients from 164 unrelated families. The most common phenotypes were foveal hypoplasia (97.8%), nystagmus (92.6%), aniridia (76.7%), cataract (36.8%), and iris hypoplasia (22.4%). Mosaicism ranging from 13.9% to 18.8% was identified in 3 unrelated patients' parents with relatively mild phenotypes. Missense variants in the linker region of the paired domain were associated with high myopia, whereas truncation variants in the homeodomain and proline-serine-threonine-rich domain were associated with hyperopia. Similarly, the degree of iris defects, visual acuity, and associated ocular comorbidity varied among the different types and locations of PAX6 variants. Our data indicate that foveal hypoplasia but not aniridia is the most common sign of PAX6-related disorders, contributing to subtle iris changes that might easily be overlooked in clinical practice. Recognition of mosaicism in atypical cases or parents with very mild phenotypes is important in genetic counseling as their offspring are at increased risk of typical aniridia. Recognition of the genotype-phenotype relationship emphasizes involvement of PAX6 regulation in shaping complex ocular phenotypes.

Life changes and symptoms of depression and anxiety among Chinese children and adolescents before, during, and after the COVID-19 pandemic lockdown: a combination of cross-sectional, longitudinal, and clustering studies.

The measures to prevent COVID-19 pandemic had caused significant life changes, which may have caused stress on the mental health of children and adolescents. We aimed to evaluate the short- and long-term effects of life changes on children's mental health in a large Chinese cohort. Survey-based life changes during COVID-19 lockdown were measured among 7,829 Chinese students at Grade 1-9, including social contacts, lifestyles and family financial status. Clustering analysis was applied to identify potential patterns of these changes. Depressive and anxiety symptoms were measured using the Center for Epidemiologic Studies Depression Scale and Screen for Child Anxiety Related Emotional Disorders. Logistic regression models were used to investigate the associations between these changes, their patterns and the presence of depression/anxiety symptoms using both cross-sectional and longitudinal designs. We found that the prevalence of depression and anxiety symptoms decreased during pandemic (34.6-32.6%). However, during and shortly after lockdown, students who reported negative impacts on their study, social and outside activities, and diet had increased risks of depressive/anxiety symptoms. Decreased electronic time and sugar-sweetened consumption, as well as family income decline and unemployment, were also associated with higher risks of these symptoms. Additionally, students with changed sleep time had increased depressive symptoms. These associations attenuated or disappeared one year later. Similar patterns were observed in clustering analysis, while only the group with severe impact on family financial status showed a sustained increase in depression symptoms. In summary, restrictive measures that changed children and adolescents' daily life during COVID-19 lockdown showed negative effects on their mental health, with some commonalities and distinctions patterns in the manifestation of depression and anxiety symptoms.

A Decision Tree Model to Help Treatment Decision-Making for Unruptured Intracranial Aneurysms: A Multi-center, Long-Term Follow-up Study in a Large Chinese Cohort.

Chinese population have a high prevalence of unruptured intracranial aneurysm (UIA). Clinical and imaging risk factors predicting UIA growth or rupture are poorly understood in the Chinese population due to the lack of large-scale longitudinal studies, and the treatment decision for UIA patients was challenging. Develop a decision tree (DT) model for UIA instability, and validate its performance in multi-center studies. Single-UIA patients from two prospective, longitudinal multicenter cohort studies were analyzed, and set as the development cohort and validation cohort. The primary endpoint was UIA instability (rupture, growth, or morphological change). A DT was established within the development cohort and validated within the validation cohort. The performance of clinicians in identifying unstable UIAs before and after the help of the DT was compared using the area under curve (AUC). The development cohort included 1270 patients with 1270 UIAs and a follow-up duration of 47.2 ± 15.5months. Aneurysm instability occurred in 187 (14.7%) patients. Multivariate Cox analysis revealed hypertension (hazard ratio [HR], 1.54; 95%CI, 1.14-2.09), aspect ratio (HR, 1.22; 95%CI, 1.17-1.28), size ratio (HR, 1.31; 95%CI, 1.23-1.41), bifurcation configuration (HR, 2.05; 95%CI, 1.52-2.78) and irregular shape (HR, 4.30; 95%CI, 3.19-5.80) as factors of instability. In the validation cohort (n = 106, 12 was unstable), the DT model incorporating these factors was highly predictive of UIA instability (AUC, 0.88 [95%CI, 0.79-0.97]), and superior to existing UIA risk scales such as PHASES and ELAPSS (AUC, 0.77 [95%CI, 0.67-0.86] and 0.76 [95%CI, 0.66-0.86], P < 0.001). Within all 1376 single-UIA patients, the use of the DT significantly improved the accuracy of junior neurosurgical clinicians to identify unstable UIAs (AUC from 0.63 to 0.82, P < 0.001). The DT incorporating hypertension, aspect ratio, size ratio, bifurcation configuration and irregular shape was able to predict UIA instability better than existing clinical scales in Chinese cohorts. CLINICAL TRIAL REGISTRATION: IARP-CP cohort were included (unique identifier: ChiCTR1900024547. Published July 15, 2019. Completed December 30, 2020), with 100-Project phase-I cohort (unique identifier: NCT04872842, Published May 5, 2021. Completed November 8, 2022) as the development cohort. The 100-Project phase-II cohort (unique identifier: NCT05608122. Published November 8, 2022) as the validation cohort.

Development and validation of dietary depression index in Chinese adults

ABSTRACT Objective: Previous studies have suggested diet was associated with depressive symptoms. We aimed to develop and validate Dietary Depression Index (DDI) based on dietary prediction of depression in a large Chinese cancer screening cohort. Methods: In the training set (n = 2729), we developed DDI by using intake of 20 food groups derived from a food frequency questionnaire to predict depression as assessed by Patient Health Questionnaire-9 based on the reduced rank regression method. Sensitivity, specificity, positive predictive value, and negative predictive value were used to assess the performance of DDI in evaluating depression in the validation dataset (n = 1176). Results: Receiver operating characteristic analysis was constructed to determine the best cut-off value of DDI in predicting depression. In the study population, the DDI ranged from −3.126 to 1.810. The discriminative ability of DDI in predicting depression was good with the AUC of 0.799 overall, 0.794 in males and 0.808 in females. The best cut-off values of DDI for depression prediction were 0.204 overall, 0.330 in males and 0.034 in females. DDI was a validated method to assess the effects of diet on depression. Conclusion: Among individual food components in DDI, fermented vegetables, fresh vegetables, whole grains and onions were inversely associated, whereas legumes, pickled vegetables and rice were positively associated with depressive symptoms.

Perianal fistulizing lesions of Crohn's disease are associated with long-term behavior and its transition: a Chinese cohort study.

Crohn's disease (CD) has a progressive nature and commonly perianal involvement. The aim of this study is to assess the prevalence, surgical treatment, and outcome of perianal fistulizing CD with associated risk factors in a large Chinese cohort. Hospitalized patients diagnosed with CD in our center were consecutively enrolled between January 2000 and December 2018. Transition of disease behavior was classified according to the presence or absence of penetrating behavior (B3 in the Montreal classification) at diagnosis and at a median follow-up of 102 months. A total of 504 patients were included, of whom 207 (41.1%) were classified as B3 and 348 (69.0%) as L2/3 at follow-up. Transition of behavior to B3 was observed in 86 patients (17.1%). The incidence of perianal fistulizing lesions was 10.9% at 10 years with a final prevalence of 27.0% (n = 136) at the end of follow-up. Multivariate Cox regression identified independent risks of perianal fistulizing lesions for persistent B3 (hazard ratio, 4.72; 95% confidence interval, 1.91-11.66) and behavior transition of progressed to B3 (hazard ratio, 9.90; 95% confidence interval, 4.60-21.33). Perianal surgical treatments were performed in 104 patients (20.6%). Thirty-six cases (7.1%) were refractory, and it is independently associated with behavior of persistent B3 (P= 0.011). Perianal fistulizing lesions occurred frequently in Chinese CD patients. Its incidence and refractory outcome were closely associated with the penetrating CD behavior. An additional risk of perianal fistulizing lesions was indicated for CD patients with behavior of progressing to B3, suggesting further attention.

Neuroform atlas stent treatment for 533 intracranial aneurysms in a large Chinese cohort: complication risk factor analysis

BackgroundThe newest generation of Neuroform Atlas stent™ (Stryker, Fremont, California) represents a recent advance of cerebral laser-cut microstents for the treatment of intracranial wide-necked aneurysms, and postoperative complications have been observed among Western patients. We assessed predictors of complications, morbidity, and unfavourable outcomes in a large cohort of patients with aneurysms that were treated with Neuroform Atlas stents in China.MethodsThis retrospective study included subjects who were treated with Atlas stents in China from November 2020 to January 2022.ResultsA total of 522 consecutive patients (mean age, 58.9 ± 9.9 years; female, 65.3% [341/522]) with 533 aneurysms were included in the study. In the early postoperative period, the neurological morbidity rate was 7.3% (38/522), the ischaemic stroke rate was 5.0% (26/522), the aneurysm rupture subarachnoid haemorrhage rate was 2.3% (12/522), and the mRS score deterioration rate was 5.4% (28/522). The mortality rate was 0.8% (4/522) in the postoperative period. The rate of neurological morbidity during the follow-up period was 1.2% (6/486). In the multifactor prediction analysis, cerebral infarction, Hunt–Hess grade (3–5), procedure duration, stent length and coil protrusion into the parent artery were found to be independent predictors of neurologic morbidity. The procedure duration, stent length and coil protrusion into the parent artery were found to be independent predictors of mRS score deterioration.ConclusionsThe incidence of SCA (stent-assisted coiling)-related complications with the Atlas stent in this study population was comparable to that in Western populations. We identified the procedure duration and stent length as novel independent predictors of SCA-related ischaemic stroke, neurological morbidity, and mRS score deterioration among the Chinese population.

Clinical characteristics, prognosis, and immunotherapy outcome in pediatric melanoma: Analysis from a large Chinese cohort.

10050 Background: Malignant melanoma in children and adolescents is rare, with limited data on Chinese populations.To assess the clinical characteristics, survival, prognostic factors, and the efficacy of immunotherapy in a real-world cohort of Chinese pediatric patients with melanoma. Methods: This is a retrospective, cohort study included pediatric melanoma patients between February, 2005 and May, 2021, with a median follow-up time of 76.7 months. Data analyses were conducted in May, 2023. This study enrolled patients from Sun Yat-sen University Cancer Center, the biggest cancer institution in South China for cancer prevention, diagnosis and treatment. Inclusion criteria for this study were as follows: 1) histopathologically confirmed diagnosis of melanoma; 2) Age ≤18 year; 3) with complete clinical data on sex, age, histopathological features, etc. The exclusion criteria was secondary malignant melanoma. Main outcomes and measures were patient’s OS and EFS. Results: 43 patients were enrolled, with median age of 138.9 (range 13.1-215.0) months, including 30 cutaneous melanoma, 7 meningeal melanoma, 5 mucosal melanoma, and 1 uveal melanoma. The frequency of BRAF V600E mutation was 16.7% (4/24). Mismatch repair proteins were normally expressed (7/7), and the positive rate of programmed cell death ligand 1 expression was 55.6% (5/9). The event-free survival and overall survival of cutaneous, mucosal and meningeal melanoma were 46.7±9.1% vs 75.0±21.7% vs 16.7±15.2% ( P = 0.010), 65.5±8.9% vs 75.0±21.7% vs 16.7±15.2% (P&lt; 0.001), respectively. Survival of cutaneous melanoma were associated with pathological type, ulceration, Clark level, disease spread, sentinel lymph node status, tumor stage and Ki-67 expression. 5 of 9 patients who were treated with PD-1 inhibitors (5 with PD-1 inhibitors alone, 3 with PD-1 inhibitors plus angiogenesis inhibitors, 1 with combination of anti-PD1, anti-angiogenic inhibitors plus chemotherapy) were evaluable with the overall response rate of 20%. The most common immune-related adverse event was hypothyroidism. Conclusions: This is the largest real-world study in pediatric melanoma patients in Asia. The prognosis of mucosal melanoma was favorable, followed by cutaneous melanoma, and meningeal melanoma had the worst prognosis. PD-1 antibody combined with angiogenesis inhibitors maybe a promising choice in pediatric melanoma.