Identification of immune-related biomarkers in adrenocortical carcinoma: Immune-related biomarkers for ACC

Emerging evidence has suggested that the tumor microenvironment, including immune infiltration, plays a crucially important role in tumor progression. Nevertheless, limited studies have been conducted on this topic in adrenocortical carcinoma. The present study aimed to explore the immune-related biomarkers in adrenocortical carcinoma. CIBERSORT was used to estimate the abundances of 22 kinds of immune cells, and univariable Cox analysis was performed to find survival-related immune cells with both Overall Survival (OS) and Progression-Free Interval (PFI). DESeq2 was applied to find differentially expressed genes between adrenocortical carcinoma and normal control samples; subsequently, weighted correlation network analysis and protein-protein interaction (PPI) network analysis were conducted to identify immune-related hub genes. xCell, TISIDB, and MsigDB were searched to validate the immune associations of hub genes. Eventually, univariable Cox and Kaplan–Meier analysis were used to assess the prognostic implications of the hub gene with the GEO database. Consequently, we identified two hub immune-related genes (ERN1, CEP55), GSEA revealed that both were mainly involved in tumor progression and immune response. ROC analysis indicated that ERN1 can accurately predict the 1-, 3-, and 5-year PFI, and CEP55 had the best performance for the prediction of both OS and PFI compared with other traits. Univariable Cox and Kaplan–Meier analysis showed that both genes have a significant effect on prognosis. Furthermore, both hub genes were validated in GEO datasets. The hub genes can provide better insights into tumor microenvironment and serve as potential biomarkers for immunotherapy in adrenocortical carcinoma.     

Influence of ADRB1, ADRB2, and COMT Genetic Polymorphisms on Postoperative Outcomes of Patients Undergoing Cardiac Valve Surgery

PurposeThe aim of this study is to prospectively investigate the influence of ADRB and COMT gene polymorphisms on postoperative outcomes of patients undergoing cardiac surgery.MethodsThis prospective cohort study included 223 patients undergoing elective cardiac valve surgery using cardiopulmonary bypass. Demographic information, intraoperative data, postoperative data, and blood samples were collected. Patients were genotyped for single-nucleotide polymorphisms (SNPs) of ADRB1 rs1801253, ADRB2 rs1042713, and COMT rs4680. Major adverse cardiovascular and cerebrovascular events (MACCEs) were used as the primary outcome to evaluate the postoperative prognosis of patients. Secondary outcomes included the duration of mechanical ventilatory support, intensive care unit stay, postoperative hospital stay, and postoperative need of inotropic or vasoactive agents.FindingsThe overall incidence of MACCEs was 15.2%. Among 3 SNP loci, only different genotyped carriers of ADRB2 rs1042713 had statistically significant differences in the incidence of MACCEs (P = 0.005), especially for acute kidney injury (P = 0.023). The proportions of postoperative norepinephrine demand of patients carrying the AA genotype of ADRB2 rs1042713 (P = 0.016) and the AG genotype of COMT rs4680 (P = 0.018) were low. The duration of mechanical ventilatory support (P = 0.034) and postoperative hospital stay (P = 0.045) of patients carrying the AG genotype of COMT rs4680 was shortest. After multiple logistic regression analysis, we found that the G allele carriers of ADRB2 rs1042713 had a higher risk of MACCEs (AG vs AA genotype: odds ratio [OR] = 4.348; 95% CI, 1.529–12.359, P = 0.006; GG vs AA genotype: OR = 3.722; 95% CI, 1.060–13.071; P = 0.040), in particular with acute kidney injury (AG vs AA genotype: OR = 5.273; 95% CI, 1.093–25.451; P = 0.038; GG vs AA genotype: OR = 7.533; 95% CI, 1.275–44.522; P = 0.026). There was no SNP-SNP interaction found among the 3 SNPs with multifactor dimensionality reduction analysis.ImplicationThe ADRB2 rs1042713 polymorphism might be related to prognosis of patients undergoing cardiac surgery. Patients carrying the G allele of ADRB2 rs1042713 had a higher risk of developing MACCEs, especially acute kidney injury. chictr.org.com identifier: ChiCTR1800015105.     

A large congenital atrial septal defect in an adult with delayed therapy

Patients with a large congenital atrial septal defect (ASD) traditionally have the ASD repaired at the preschool age. Unfortunately, insufficient education of patients regarding medical science and clinical recommendations can lead to delayed therapy, resulting in complications during adulthood. We report a rare case of a large congenital ASD in a 20-year-old man. Echocardiography showed a 67-mm ostium secundum defect and moderate mitral and tricuspid regurgitation. The patient underwent transthoracic ASD repair along with mitral and tricuspid valvuloplasty. This report emphasizes the importance of educating patients about congenital malformations and potential interventions in developing countries, particularly in rural communities.     

Role of neuroimaging before reperfusion therapy. Part 1 – IV thrombolysis – Review

This review paper summarises the yield of the different imaging modalities in the evaluation of patients for IV thrombolysis. Non-contrast CT and CTA or brain MRI combined with MRA are the recommended sequences for the evaluation of patients within the 4.5 hours time window. Multimodal MRI (DWI/PWI), and more recently, CT perfusion, offer reliable surrogate of salvageable penumbra, the target mismatch, which is now currently used as selection criteria for revascularisation treatment in an extended time window. Those sequences may also help the physician for the management of other limited cases when the diagnosis of acute ischemic stroke is difficult. Another approach the DWI/FLAIR mismatch has been proposed to identify among wake-up stroke patients those who have been experiencing an acute ischemic stroke evolving from less than 4.5 hrs. Other biomarkers, such as the clot imaging on MRI and CT, help to predict the recanalisation rate after IVT, while the impact of the presence microbleeds on MRI remains to be determined.     

Increased regional homogeneity modulated by metacognitive training predicts therapeutic efficacy in patients with schizophrenia

European Archives of Psychiatry and Clinical Neuroscience - Previous studies have demonstrated the efficacy of metacognitive training (MCT) in schizophrenia. However, the underlying mechanisms...     

The relationship of sleep quality among internship nurses with clinical learning environment and mental stress: a cross-sectional survey

BackgroundPrevious evidence has supported an association between sleep quality and psychological stress. However, the association between internship nurses' sleep status and its relevant factors is poorly understood.ObjectiveThe aim of this study was to investigate sleep quality and its related factors in clinical learning environment and mental stress.MethodsA cross-sectional survey was conducted by three instruments: Clinical Learning Environment, Supervision, and Nurse Teacher Evaluation Scale (CLES + T), Stress Rating Scale for practicing nurses (SRS) and Pittsburgh Sleep Quality Index (PSQI).ResultsA total of 508 (91.86%) of 553 students experienced poor sleep quality. The structural equation model showed a correlation of the PSQI with the CLES + T (r = −0.21, p < 0.001), a correlation of the PSQI with the SRS (r = 0.32, p < 0.001), and a correlation of the SRS with the CLES + T (r = −0.22, p < 0.001). Linear regression analysis showed that education (B = −0.56, p < 0.001), willingness to engage in nursing after graduation (B = −0.75, p < 0.001), pedagogical atmosphere in the ward (B = −0.05, p < 0.001) measured by the CLES + T, workload (B = 0.11, p = 0.01), interpersonal relationships (B = −0.12, p = 0.03), and conflicts between study and work (B = 0.12, p < 0.001) on the SRS were significant factors influencing the PSQI.ConclusionsPoor sleep quality is common among internship nurses and it's affected by clinical environment and mental stress. It's necessary to apply more tailored education programs to promote nursing development.     

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays.ResultsOur data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants.ConclusionInsights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome.     

Abnormal topological organization in systemic lupus erythematosus: a resting-state functional magnetic resonance imaging analysis

Brain Imaging and Behavior - Using resting-state functional magnetic resonance imaging and graph theory approaches to investigate the topological characteristics of functional networks and their...     

Less reduced gray matter volume in the subregions of superior temporal gyrus predicts better treatment efficacy in drug-naive,first-episode schizophrenia

Decreased gray matter volume (GMV) in the superior temporal gyrus (STG) has been implicated in the neurophysiology of schizophrenia. However, it remains unclear whether volumetric reduction in the subregions of the STG can predict treatment efficacy for schizophrenia. Our cohort included 44 drug-naive, first-episode patients, 42 unaffected siblings and 44 healthy controls. Voxel-based morphometry and pattern classification were utilized to analyze the acquired imaging data as per the anatomical subdivision by a well-defined brainnetome atlas. The patients presented lower GMV values in left TE1.0/1.2 (TE, anterior temporal visual association area) than the siblings, and lower GMV values in the left/right TE1.0/1.2 and left A22r (rostral area 22) than the controls. A positive correlation is observed between the GMV values in the right A38l (lateral area 38) and baseline Positive and Negative Syndrome Scale (PANSS) total scores in the patients. Support vector regression (SVR) results exhibited a significant association between predicted (based on the GMV values in the right A38l) and actual symptomatic improvement based on the reduction ratio of the PANSS total scores (r = 0.498, p = 0.001). Our results suggest that normal structure in the right A38l of the STG may be an important factor indicative of the effects of antipsychotic drugs, which can be potentially used to monitor drug effects for first-episode patients at an early stage in clinical practice.

     

Old unreduced obturator dislocation of the hip: A case report

BACKGROUNDObturator dislocation is a rare type of hip dislocation, accounting for about 2%-5% of all hip dislocations. The occurrence of old unreduced obturator dislocation is even more infrequent, with only 17 cases reported in nine studies, most of which were from the 1950s to 1980s in developing countries.CASE SUMMARYA 38-year-old woman from Hunan Province, China presented with stiffness of the left hip in abduction, flexion, and external rotation after falling from a 2-meter-tall tree onto her left knee 1.5 mo prior. Pelvic radiograph and computed tomography revealed obturator dislocation of the left hip accompanied by impaction fracture at the superolateral aspect of the left femoral head without associated acetabulum fracture. Open reduction was performed, resulting in restoration of the concentric alignment of the left hip. After surgery, 6-wk skin traction was applied and the patient was kept in bed for an additional 2 wk. At 3 mo after surgery, the patient reported experiencing some pain, which did not affect the function of the affected limb, and some movement restriction but no abduction deformity or claudication was present. An X-ray showed that the left hip was homocentric, and there was no sign of posttraumatic arthritis or avascular necrosis.CONCLUSIONOpen reduction may be an effective treatment strategy for the rare condition of old unreduced obturator dislocation with short neglect time.