Purpose: To determine the non-contrast computer tomography imaging features of pyonephrosis and evaluate the predictive value of Hounsfield units (HUs) in different hydronephrotic region slices. Materials and Methods: We retrospectively reviewed data from patients with hydronephrosis who had renal-ureteral calculi. All patients were categorized into pyonephrosis and simple hydronephrosis groups. Baseline characteristics, the mean HU values in the maximal hydronephrotic region (uHU) slice, and the range of uHU in different slices (△uHU) were compared between the two groups. Univariate and multivariate analyses were performed to identify risk factors for pyonephrosis. Results: Among the 181 patients enrolled in the current study, 71 patients (39.2%) were diagnosed with pyonephrosis. The mean dilated pelvis surface areas were comparable between patients with pyonephrosis and simple hydronephrosis (822.61 ㎟ vs.877.23 ㎟ , p=0.722). Collecting system debris (p=0.022), a higher uHU (p=0.038), and a higher △uHU (p<0.001) were identified as independent risk factors for pyonephrosis based on multivariate analysis. The △uHU sensitivity and specificity were 88.7% and 86.4%, respectively, at a cutoff value of 6.56 (p<0.001), whereas the sensitivity and specificity for detecting pyonephrosis at a uHU cutoff value of 7.96 was 50.7% and 70.9%, respectively (p=0.003). Conclusions Non-contrast computer tomography was shown to accurately distinguish simple hydronephrosis from pyonephrosis in patients with obstructive uropathy. Evaluation of the △uHU in different slices may be more reliable than the uHU acquired from a single slice in predicting pyonephrosis.

Objective:To explore the predictive value of the prognostic nutritional index (PNI) in concurrently infected patients with acute-on-chronic liver failure (ACLF).Methods:220 cases with ACLF diagnosed and treated at the First Affiliated Hospital of Xi'an Jiaotong University from January 2011 to December 2016 were selected. Patients were divided into an infection and non-infection group according to whether they had co-infections during the course of the disease. Clinical data differences were compared between the two groups of patients. Binary logistic regression analysis was used to screen out influencing factors related to co-infection. The receiver operating characteristic curve was used to evaluate the predictive value of PNI for ACLF co-infection. The measurement data between groups were compared using the independent sample t-test and the Mann-Whitney U rank sum test. The enumeration data were analyzed using the Fisher exact probability test or the Pearson χ2 test. The Pearson method was performed for correlation analysis. The independent risk factors for liver failure associated with co-infection were analyzed by multivariate logistic analysis. Results:There were statistically significant differences in ascites, hepatorenal syndrome, PNI score, and albumin between the infection and the non-infection group ( P ?

Objective To investigate the impact of total parathyroidectomy with autotransplantation (tPTx+AT)on bone mineral density and serum soluble Klotho (sKlotho)level in patients with secondary hyperparathyroidism (SHPT).Methods A total of 86 patients undergoing tPTx+AT in the Second Affiliated Hospital of Anhui Medical University from June 2019 to May 2022 were recruited in this study.Their demographic characteristics were collected before surgery,along with serum levels of corrected calcium,phosphorus,intact parathyroid hormone (iPTH),alkaline phosphatase (ALP),fibroblast growth factor 23 (FGF23),and sKlotho before and at 5 d,and 1,3,6,12 and 24 months after surgery.Dual energy X-ray absorptiometry was used to determine the BMD values of the lumbar spine L1-L4 before surgery and at 3,6,12 and 24 months after surgery.The changes in BMD and serum FGF23 and sKlotho levels before and after tPTx+AT were observed.Results Surgical treatment was successfully completed in all 86 patients,with their clinical symptoms such as bone pain and skin itching significantly improved postoperatively,and markedly decreased serum calcium,phosphorus,iPTH,ALP and FGF23 levels.The sKlotho level was significantly lower at 5 d postoperatively than that preoperatively,with that at 1 month after surgery increased by approximately 24.5％ than the preoperative level,and then the level was in a stable trend.The BMD values at the lumbar spine L1-L4 were increased postoperatively,and reached the highest levels at 12 months postoperatively.Further analyses showed that dialysis vintage,duration of SHPT,and ALP,iPTH and FGF23 levels were negatively correlated with the Z-scores of the lumbar spine L1-L4,while sKlotho level was positively correlated with the Z-scores.Conclusion tPTx+Atcan significantly improve the clinical symptoms of SHPT patients,regulate the balance of calcium and phosphorus metabolism,increase sKlotho level and reduce FGF23 level.It is an effective method to improve BMD.

Anxiety disorders are characterized by high prevalence and recurrence rate.Selective serotonin reuptake inhibitors(SSRIs)and cognitive behavioral therapy(CBT)are recommended as first-line treatments for anxiety disorders,while some patients do not response to either of these treatments.Therefore,exploring the neurobiological mechanisms associated with treatment response and valuable prognostic marker is of great value in guiding clinical decision making.Previous studies have reported an altered electroencephalogram(EEG)pattern in patients with anxiety disorders after treatment,and revealed a correlation between baseline EEG and treatment response,suggesting that EEG is of great value in predicting the treatment response in anxiety disorders.The purpose of this article is to delineate findings from a systematic review of the literature investigating the EEG signal in prognostic prediction and exploration of neurobiological mechanisms,so as to provide electrophysiological evidence for individualized treatment of anxiety disorders.Results of this review show that patients responding more strongly to negative emotional stimuli before treatment are more likely to benefit from SSRIs and CBT.After the CBT,no statistical difference is found in the amplitude of error-related negativity(ERN)and P1 component between pre-and post-procedure measurements,suggesting that CBT may not reduce anxiety symptoms by improving attention bias and behavioral monitoring.EEG indicators related to emotion perception under negative emotional stimuli at baseline,such as late positive potential(LPP),may be promising markers for predicting response to treatment in anxiety disorders.

Objective:To explore the exercise self-management cognition and real experience of elderly patients with colorectal cancer and sarcopenia, providing reference for the development of exercise intervention programs.Methods:This study was a descriptive qualitative research. From September to December 2023, purposive sampling was used to select 13 elderly patients with colorectal cancer and sarcopenia who visited Affiliated Hospital of Jiangnan University as participants, and face-to-face semi-structured in-depth interviews were conducted. Content analysis method was used to analyze, summarize, and extract themes from interview data.Results:Among the 13 elderly patients with colorectal cancer, there were six males and seven females aged 61 to 70 years. A total of three core themes and ten sub-themes were extracted, namely, cognition of disease and exercise (cognition of disease concepts, cognition of exercise self-management), diverse experiences of exercise self-management (positive support for exercise self-management, negative response to exercise self-management, and concerns about exercise self-management due to self-drag), and expectations for exercise self-management (information support and professional management needs, diversity needs of exercise content and methods, scientific needs of exercise volume and intensity, safety needs of exercise process, and systematic needs of system guarantees) .Conclusions:Elderly patients with colorectal cancer and sarcopenia have a certain level of enthusiasm and expectation for exercise self-management, but due to weak cognition of disease concepts and the benefits of exercise, self-drag, and insufficient system guarantees, there are negative responses to exercise. Medical and nursing staff need to strengthen their assessment of this population and develop scientific and systematic exercise intervention programs. The government and all sectors of society should actively guide people to have a positive cognition of diseases and provide certain policy guarantees.

Objective:To explore the exercise self-management cognition and real experience of elderly patients with colorectal cancer and sarcopenia, providing reference for the development of exercise intervention programs.Methods:This study was a descriptive qualitative research. From September to December 2023, purposive sampling was used to select 13 elderly patients with colorectal cancer and sarcopenia who visited Affiliated Hospital of Jiangnan University as participants, and face-to-face semi-structured in-depth interviews were conducted. Content analysis method was used to analyze, summarize, and extract themes from interview data.Results:Among the 13 elderly patients with colorectal cancer, there were six males and seven females aged 61 to 70 years. A total of three core themes and ten sub-themes were extracted, namely, cognition of disease and exercise (cognition of disease concepts, cognition of exercise self-management), diverse experiences of exercise self-management (positive support for exercise self-management, negative response to exercise self-management, and concerns about exercise self-management due to self-drag), and expectations for exercise self-management (information support and professional management needs, diversity needs of exercise content and methods, scientific needs of exercise volume and intensity, safety needs of exercise process, and systematic needs of system guarantees) .Conclusions:Elderly patients with colorectal cancer and sarcopenia have a certain level of enthusiasm and expectation for exercise self-management, but due to weak cognition of disease concepts and the benefits of exercise, self-drag, and insufficient system guarantees, there are negative responses to exercise. Medical and nursing staff need to strengthen their assessment of this population and develop scientific and systematic exercise intervention programs. The government and all sectors of society should actively guide people to have a positive cognition of diseases and provide certain policy guarantees.

OBJECTIVE: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter. RESULTS: The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance. CONCLUSION Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Autism Spectrum Disorder/genetics* ; Genomics ; Heterozygote ; Humans ; Mosaicism ; Whole Exome Sequencing

Objective:To explore the application value of apparent diffusion coefficient (ADC) of magnetic resonance diffusion weighted imaging (DWI) parameters in glioma classification and glioma microstructure evaluation.Methods:From June 2017 to November 2019, 38 patients with glioma confirmed by surgery and pathology in Haikou Hospital Affiliated to Xiangya Medical College of Central South University were retrospectively analyzed. According to the pathological results, they were divided into low-grade (WHO Ⅰ-Ⅱ, 15 cases) glioma group and high-grade (WHO Ⅲ-Ⅳ, 23 cases) glioma group. They received magnetic resonance imaging (MRI) plain scan and DWI scan respectively, and the ADC value and microstructure of different grades of glioma were compared. The correlation between ADC value of glioma and the percentage of vascular endothelial growth factor (VEGF)-positive cells, cell density and integrated optical density (IOD) value of aquaporin 1 (AQP1) expression was analyzed.Results:(1) MRI examination showed that the signals of low-grade glioma were more uniform, with no or slight peritumoral edema and space occupying effect, and the enhancement was more non enhanced or slightly enhanced. The signals of high-grade glioma were more heterogeneous due to necrosis and bleeding, and the peritumoral edema and space occupying effect were more obvious, showing uneven obvious enhancement or irregular ring enhancement; (2) The percentage of VEGF positive cells, cell density and the IOD value of AQP1 expression in high-grade glioma were significantly higher than that in low-grade glioma, and the ADC value was lower than that in low-grade glioma (all P<0.05); (3) The ADC value of glioma patients was negatively correlated with the percentage of VEGF-positive cells, cell density, and the IOD value of AQP1 expression ( r=-0.55, -0.65, -0.63, all P<0.05). Conclusions:The ADC value of glioma can indirectly reflect the expression of VEGF, cell density and AQP1 positive expression level, which is helpful for preoperative glioma classification and evaluation of glioma microstructure and biological characteristics.

OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION The KIF1A gene may be a risk gene for ASD.
Autism Spectrum Disorder/genetics* ; Child ; Female ; Humans ; Kinesin/genetics* ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing

Objective:To investigate the effect of long-term oral administration of β-blocker on septic myocardial injury and prognosis.Methods:A retrospective study was conducted. Patients who were admitted to the emergency intensive care unit (EICU) and intensive care unit (ICU) of Tongde Hospital of Zhejiang Province from January 2015 to June 2020 were enrolled. A total of 289 patients who met the criteria of myocardial injury induced by sepsis were included in the analysis. Among them, 187 patients who had never taken β-blocker within 3 months before diagnosis were divided in the non-β-blocker group, and 102 patients who took β-blocker daily for more than 3 months before diagnosis were in the β-blocker group. The physiological and biochemical characteristics were compared between the two groups, including heart rate, mean arterial pressure (MAP) at the time of diagnosis, cardiac troponin I (cTnI), brain natriuretic peptide (BNP), MB isoenzyme of creatine kinase (CK-MB), blood lactic acid (Lac), central venous oxygen saturation (ScvO 2), sequential organ failure assessment (SOFA) score, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score within 24 hours of diagnosis, left ventricular ejection fraction (LVEF), early and late mitral orifice diastolic peak flow velocity ratio (E/A), utilization rate of vasoactive drugs during hospitalization and 28-day mortality. Results:The heart rate in the β-blocker group at the time of diagnosis was significantly lower than that in the non-β-blocker group (bpm: 107±8 vs. 110±7, P < 0.01), and the levels of cTnI and BNP within 24 hours of diagnosis were significantly lower than those in the non-β-blocker group [cTnI (μg/L): 0.191 (0.220) vs. 0.291 (0.300), BNP (ng/L): 627 (133) vs. 690 (201), both P < 0.05]. However, there were no significant differences in MAP, CK-MB, Lac, ScvO 2, SOFA score, APACHE Ⅱ score, LVEF, E/A, vasoactive drug utilization rate, and 28-day mortality between the β-blocker and non-β-blocker groups [MAP (mmHg, 1 mmHg = 0.133 kPa): 70.6±3.9 vs. 69.9±3.8, CK-MB (μg/L): 4.24 (3.33) vs. 4.32 (3.13), Lac (mmol/L): 3.50 (1.80) vs. 3.50 (1.90), ScvO 2: 0.729±0.032 vs. 0.735±0.041, SOFA score: 7.74±2.34 vs. 7.25±2.23, APACHE Ⅱ score: 17.19±5.13 vs. 18.27±6.12, LVEF: 0.567±0.058 vs. 0.557±0.051, E/A: 0.71 (0.20) vs. 0.69 (0.20), vasoactive drug utilization rate: 60.8% (62/102) vs. 56.7% (106/187), 28-day mortality: 23.5% (24/102) vs. 25.7% (48/187), all P > 0.05]. Conclusion:Long-term oral administration of β-blocker reduce myocardial injury in septic patients, and has no effect on disease severity and prognosis.