Objective To explore the diagnostic value of exhaled volatile organic compounds (VOCs) for cystic fibrosis (CF). Methods A systematic search was conducted in PubMed, EMbase, Web of Science, Cochrane Library, CNKI, Wanfang, VIP, and SinoMed databases up to August 7, 2024. Studies that met the inclusion criteria were selected for data extraction and quality assessment. The quality of included studies was assessed by the Newcastle-Ottawa Scale (NOS), and the risk of bias and applicability of included prediction model studies were assessed by the prediction model risk of bias assessment tool (PROBAST). Results A total of 10 studies were included, among which 5 studies only identified specific exhaled VOCs in CF patients, and another 5 developed 7 CF risk prediction models based on the identification of VOCs in CF. The included studies reported a total of 75 exhaled VOCs, most of which belonged to the categories of acylcarnitines, aldehydes, acids, and esters. Most models (n=6, 85.7%) only included exhaled VOCs as predictive factors, and only one model included factors other than VOCs, including forced expiratory flow at 75% of forced vital capacity (FEF75) and modified Medical Research Council scale for the assessment of dyspnea (mMRC). The accuracy of the models ranged from 77% to 100%, and the area under the receiver operating characteristic curve ranged from 0.771 to 0.988. None of the included studies provided information on the calibration of the models. The results of the Prediction Model Risk of Bias Assessment Tool (PROBAST) showed that the overall bias risk of all predictive model studies was high, and the overall applicability was unclear. Conclusion The exhaled VOCs reported in the included studies showed significant heterogeneity, and more research is needed to explore specific compounds for CF. In addition, risk prediction models based on exhaled VOCs have certain value in the diagnosis of CF, but the overall bias risk is relatively high and needs further optimization from aspects such as model construction and validation.

【Objective】 To explore the correlation between abnormal thalamic functional connectivity (FC) and memory loss in maintenance hemodialysis patients with end-stage renal disease (ESRD). 【Methods】 An auditory verbal learning test (AVLT-H) was conducted on 22 patients with ESRD and 28 age-, sex-, and education-matched healthy controls (HC) to evaluate memory function. After that, resting-state functional magnetic resonance imaging (rs-fMRI) data were gathered, and a whole-brain FC analysis centered on the thalamus was executed to discern variations in thalamic FC between the two groups. Finally, Pearson and Spearman correlation analyses were carried out. 【Results】 Compared to the HC group, the ESRD group exhibited notably lower scores in IR-S (P=0.002), SR-S (P<0.001), and LR-S (P=0.005). Concurrently, the ESRD group demonstrated diminished FC of the right thalamus with the left superior frontal gyrus, the left parietal lobule, the right suproccipital gyrus, the right anterior cuneus, and the right middle frontal gyrus (P<0.05, TFCE correction). Additionally, reduced FC were observed between the left thalamus and the left gyrus rectus, the left parietal lobule, and the right parietal lobule in the ESRD group (P<0.05, TFCE correction). Moreover, the FC values between the left thalamus and the left gyrus rectus in the ESRD group displayed significant negative correlations with IR-S (r=-0.499), SR-S (r=-0.458), and LR-S (r=-0.455) (all P<0.05). 【Conclusion】 Memory impairment is evident in ESRD patients undergoing maintenance hemodialysis, and it appears to be intricately linked to anomalous FC within the left thalamus and the left gyrus rectus. These findings offer potential imaging markers for monitoring memory dysfunction in individuals with ESRD.

Objective To observe the alterations in functional complexity of brain regions in autism spectrum disorder(ASD)patients and correlations with the predicted brain age.Methods Open brain resting-state functional MRI(rs-MRI)data of 93 ASD patients and 96 typically developing adolescents(healthy subjects)were downloaded.The functional complexity in brain regions were extracted with self-developed virtual digital brain software,and the alterations in functional complexity of brain regions in ASD patients and correlations with their ages were analyzed.Two networks were prospectively trained with data of 65 ASD patients and 67 healthy subjects as the training set to predict brain age,and the results were evaluated,and the predicting errors were compared using test set,i.e.the other 28 ASD patients and 29 healthy subjects.Results Compared to healthy subjects,on the basis of anatomical automatic labeling(AAL)atlas,ASD patients exhibited significantly reduced functional complexity based on Shannon entropy in the left precuneus,left cuneus and right parahippocampal gyrus.Conversely,functional complexity of ASD patients based on permutation entropy significantly increased in the left cuneus and right cerebellar Crus Ⅱ region.The left hippocampus showed reduced functional complexity based on Pearson correlation coefficient,while the left middle temporal gyrus showed increased functional complexity based on Pearson correlation coefficient.The functional complexity in brain regions of ASD patients were not closely correlated with ages(all|r|＜0.4).According to the trained fully connected network,the predicted brain ages of ASD patients and healthy subjects in test set were all lower than their physiological ages,but no significant difference was found between the prediction errors of ASD patients and healthy subjects(P=0.283).Conclusion Functional complexity changed in some brain region functions in ASD patients.The predicted brain ages of ASD patients based on the obtained fully connected network were on the low side,but not obviously affected by the alterations of functional complexity in brain regions.

Objective:To investigate the dosimetric effects of complex cardiac-respiratory motion in cardiac stereotactic body radiotherapy (CSBRT).Methods:A cardiac motion phantom was employed to simulate patient-specific cardiac-respiratory motion in 10 cases. The measured doses obtained under the phantom motion state were compared with the calculated doses in radiotherapy treatment planning for clinical patients. Moreover, 18 groups of design-based cardiac-respiratory motion were simulated. The radiation doses under the phantom motion state were measured using radiochromic films and compared with those under the resting state.Results:In the patient-specific cardiac-respiratory motion group, the gamma passing rate (GPR) under the 3%/2 mm standard between the measured and the calculated doses was 90.0% ± 7.0%. The correlation coefficient of the respiratory motion amplitude in the superior-inferior (SI) dimension with the GPR was -0.86 ( P=0.01). In the design-based cardiac-respiratory motion groups, the increase in the amplitude of cardiac-respiratory motion reduced the consistency between the dynamic dose and the static reference dose. Especially, the increase in the respiratory motion amplitude produced the most pronounced effect, reducing the width of the 90% isodose line in the respiratory motion direction, with a mean slope of -1.6. Additionally, the increase in the penumbra corresponds to a mean slope of 1.4. Conclusions:The respiratory motion amplitude serves as a primary factor influencing the dose accuracy of CBSRT. The characteristics and dosimetric effects of cardiac-respiratory motion are patient-specific, thus necessitating the assessment of cardiac-respiratory motion characteristics before CBSRT to individualize the application of motion management techniques for enhanced treatment accuracy.

Objective To evaluate the clinical efficacy and safety of CT-guided percutaneous osteoplasty(POP)in the treatment of osteolytic metastases of the pelvis.Methods The clinical data of a total of 40 patients with pelvic osteolytic metastases,who received CT-guided POP at the Affiliated Zhongda Hospital of Southeast University between October 2011 and December 2021,were collected.Visual analogue scale(VAS)score was used to evaluate the clinical pain relief degree at one week,one month,3 months,6 months and 12 months after POP,and the joint function and the used dose of analgesic drugs were recorded.The preoperative and the postoperative 3-month,6-month and 12-month extents of the pelvic tumor destruction were compared.Based on the progression of local lesions within 12 months of follow-up,the patients were divided into controlled group and progression group.The proportion of using systemic anti-tumor therapy,the size of lesion,the amount of bone cement injected,and the cement filling ratio were compared between the two groups.Results Successful surgical procedure was accomplished for 57 lesions in 40 patients.The mean amount of bone cement injected was(4.56±2.25)mUpoint.In the 40 patients,the preoperative and the postoperative one-week,one-month and 3-month VAS score were(8.00±0.85)points,(2.05±0.96)points,(2.08±0.94)points and(2.18±0.84)points respectively,the difference in VAS score between preoperative value and postoperative one-week value was statistically significant(P＜0.01).In 37 patients,the postoperative 6-month VAS score was(2.35±0.54)points;and in 28 patients,the postoperative 12-month VAS score was(2.43±0.79)points.The differences in VAS score between postoperative one-week value and postoperative one-month,3-month,6-month,and 12-month values were not statistically significant(all P＞0.05),while the differences in VAS score between preoperative value and postoperative values were statistically significant(F=316.3,P＜0.01).The postoperative 3-month,6-month,and 12-month local control rates were 96.49％,85.19％,and 78.12％respectively,the differences between each other among the above three values were statistically significant(P=0.026).No statistically significant differences in the proportion of using systemic anti-tumor therapy,the lesion size and the amount of bone cement injected existed between the controlled group and the progression group(all P＞0.05).The cement filling ratio in the controlled group and the progression group was(81.26±9.17)％and(68.40±12.98)％respectively,and the difference between the two groups was statistically significant(P＜0.01).Conclusion For the treatment of pelvic metastases,CT-guided POP is clinically safe and effective.The injected bone cement can control the progression of local lesions for a longer time.(J Intervent Radiol,2023,32:1197-1201)

BACKGROUND: Microsatellite instability (MSI) is a key biomarker for cancer immunotherapy and prognosis. Integration of MSI testing into a next-generation-sequencing (NGS) panel could save tissue sample, reduce turn-around time and cost, and provide MSI status and comprehensive genomic profiling in single test. We aimed to develop an MSI calling model to detect MSI status along with the NGS panel-based profiling test using tumor-only samples. METHODS: From January 2019 to December 2020, a total of 174 colorectal cancer (CRC) patients were enrolled, including 31 MSI-high (MSI-H) and 143 microsatellite stability (MSS) cases. Among them, 56 paired tumor and normal samples (10 MSI-H and 46 MSS) were used for modeling, and another 118 tumor-only samples were used for validation. MSI polymerase chain reaction (MSI-PCR) was performed as the gold standard. A baseline was built for the selected microsatellite loci using the NGS data of 56 normal blood samples. An MSI detection model was constructed by analyzing the NGS data of tissue samples. The performance of the model was compared with the results of MSI-PCR. RESULTS: We first intersected the target genomic regions of the NGS panels used in this study to select common microsatellite loci. A total of 42 loci including 23 mononucleotide repeat sites and 19 longer repeat sites were candidates for modeling. As mononucleotide repeat sites are more sensitive and specific for detecting MSI status than sites with longer length motif and the mononucleotide repeat sites performed even better than the total sites, a model containing 23 mononucleotide repeat sites was constructed and named Colorectal Cancer Microsatellite Instability test (CRC-MSI). The model achieved 100% sensitivity and 100% specificity when compared with MSI-PCR in both training and validation sets. Furthermore, the CRC-MSI model was robust with the tumor content as low as 6%. In addition, 8 out of 10 MSI-H samples showed alternations in the four mismatch repair genes ( MLH1 , MSH2 , MSH6 , and PMS2 ). CONCLUSION MSI status can be accurately determined along the targeted NGS panels using only tumor samples. The performance of mononucleotide repeat sites surpasses loci with longer repeat motif in MSI calling.
Humans ; Microsatellite Instability ; Colorectal Neoplasms/diagnosis* ; Microsatellite Repeats/genetics* ; DNA Mismatch Repair

Background Lipid metabolism in liver shows circadian-dependent profiles. The hepatotoxicity of environmental chemicals is dependent on circadian time. Objective To observe the effects of bisphenol A (BPA) exposure at different zeitgeber time (ZT) on hepatic and blood lipid metabolism and decipher the underlying mechanisms related to circadian rhythm in mice. Methods Thirty-five female C57BL/6J mice were sacrificed every 4 h in a light-dark cycle (12 h/12 h). The liver tissues were collected to describe the circadian profiles of hepatic Rev-erba, Bmal1, Clock, Srebp1c, and Chrebp mRNA expression levels within 24 h. Thirty female mice were divided into 6 groups by the timing (ZT3 represents the 3 h after light on, ZT15 represents the 3 h after light off) and dose (50 or 500 μg·kg⁻¹·d⁻¹) of BPA exposure to observe hepatotoxicity. Mice were gavaged with designed doses of BPA once per day for 4 weeks. Mice were maintained with ad libitum access to food and water and measured body weight weekly. After the experiment, mice were euthanatized and liver tissues were separated to determine the biochemical indicators of lipid metabolism and lipid metabolism- and circadian-related gene mRNA expressions. Results Hepatic Rev-erba, Bmal1, Clock, Srebp1c, and Chrebp mRNA expression levels were rhythmic during a 24 h period in mice. At ZT3 and ZT15, BPA did not alter body weight, plasma glucose, plasma total cholesterol, plasma low density lipoprotein cholesterol, and plasma triglycerides (P>0.05). The plasma high density lipoprotein cholesterol decreased in the 50 μg·kg⁻¹·d⁻¹ BPA group at ZT3 by 14.56% compared with the control group (P<0.05). The liver triglycerides increased in the 50 μg·kg⁻¹·d⁻¹ BPA group at ZT15 by 115.20% compared with the control group (P<0.05). BPA decreased Srebp1c mRNA expression level when dosing at ZT3 and increased Chrebp, Srebp1c, and Acc1 mRNA expression levels when dosing at ZT15 compared with the control group (P<0.05). BPA increased Bmal1 mRNA expression level and decreased Rev-erbα mRNA expression level at ZT3 exposure and decreased Bmal1 and increased Rev-erbα mRNA expression level at ZT15 exposure (P<0.05). Conclusion BPA exposure at light or dark period has different effects on hepatic lipid metabolism in mice. Hepatic lipid deposit appears when BPA is dosed at dark period. Rev-erbα-Bmal1 regulation circuits and the subsequent upregulation of Srebp1c and Chrebp and the target gene Acc1 may be involved.

Objective: To analyze the reasons of rhabdomyolysis (RM) misdiagnosed with diabetetic ketoacidosis (DKA), to clarify the mechanisms of metabolic acidosis caused by RM and DKA, and to enhance the clinical understanding of RM and metabolic acidosis. Methods: The general situation, clinical manifestation, laboratory examination results of the patient who was admitted with DKA and was diagnosed as RM in our department, were collected. Based on the literatures, the causes and manifestations of RM, as well as the treatments and prognosis of the acute kidney injure (AKD induced by RM, and the reasons of RM of the presented patient were analyzed; the similiarities and differences of the mechanisms and treatments of metabolic acidosis caused by AKI induced by RM and DKA were discussed. Results: The patient who was a 56 year-old female with hyperlycemia for 15 years, and fatigue, nausea and vomiting for 4 d was admitted. The physical examination results showed facial edema, dry tongue, poor skin elasticity, heart rate 110 min-1, severe depressed edema of extremities, muscle strength IT level. The anxiliary examination results demonstrated that the levels of blood muscle enzymes, myoglobin, urea nitrogen and creatinine were increased; the blood gas analysis indicated metabolic acidosis, accompanying with electrolyte disturbance and abnormal blood routine. According to the history, symptoms and signs, as well as the laboratory test results, the patient was diagnosed as RM, AKI, metabolic acidosis combined with respriatory alkalosis, electrolyte disturbance, and so on. The clinical symptoms and signs of the patient were recovered, and the blood creatine kinase, myoglobin and renal fuction were significantly improved after the treatment of adequate volume replacement, alkalization and protection of vital organs; the patient had a good prognosis. Conclusion: The diabetic patients may suffer from metabolic acidosis due to various causes which should be paid attention to differential diagnosis. There are some differences of the mechanisms and treatments of metabolic acidosis caused by AKI and DKA. If given the treatment of adequate volume replacement, alkalization early and aggressively, the metabolic acidosis caused by RM combined with AKI can have an excellent prognosis.

Objective To study the expression of MREll-RAD50-NBS1 complex in normal gallbladder tissues,simple cholecystitis,calculous cholecystitis and gallbladder carcinoma.Methods The expression of MRN complex in different gallbladder lesion tissues were detected by immunohistochemistry.Western blot,Methyl thiazolyl tetrazolium(MTT) assay and flow cytometry were used to detect the influence of apoptosis and proliferation induced by NBS1.Results The differences between the expression of MRE11,RAD50 and different gallbladder lesion tissues were not statistically significant (respectively x2 =2.724,1.697,all P ＞ 0.05).The expression of NBS1 in GBC tissues [15.3％ (9/59)] was prominently lower than that in the normal gallbladder tissues [84.7％ (50/59)],simple cholecystitis [87.8％ (36/41)],calculous cholecystitis [61.2％ (30/49)] (x2 =87.388,P ＜ 0.01).The Western blot results reveal that NBS1 can mediate apoptosis by up-regulate Bax and down-regulate Bcl-2.The MTT assay results showed that the relative absorbance of treatment and control group after 24,48,72 h were[(1.120 ± 0.006)vs.(1.350±0.009),(1.600±0.004)vs.(1.99±0.01),(1.83±0.01)vs.(2.260±0.003)(F=7.659,P ＜0.01).The apoptosis rate in treatment group(17.23％ ± 0.56％)was higher than that in the control group (4.13％ ± 0.67％) (t =9.133,P ＜ 0.01).Conclusion NBS1 is closely related to gallbladder carcinoma.NBS1 can inhibit the proliferation and promote apoptosis of GBC-SD cells.

To investigate the current status of the postpartum weight retention (PPWR) in Kaifu District of Changsha, and explore the influential factors with PPWR based on the generalized estimating equation model.
 Methods: A cluster sampling method was applied to select women who gave birth at the health service centers of 3 street communities in Kaifu District of Changsha during 2015. According to the inclusion and exclusion criteria, 783 cases were finally included in the study. Data on PPWR were collected prospectively by using the self-made questionnaire at 1, 3, 6 and 8 months after childbirth. Analysis were performed to investigate the associations between PPWR and its potential factors with generalized estimation equation model.
 Results: The mean PPWR of women was gradually decreased with the increase of postpartum time, and 34.6% of them have returned to the pre-pregnancy weight in the 8 months postpartum. Our findings revealed that gestation weight gain (GWG), pre-pregnancy body mass index, feeding patterns, and delivery mode were significantly associated with maternal PPWR (P<0.05). In contrast, maternal age, educational level, per capita income of family, parity and postpartum depression were not contributed to PPWR (P>0.05).
 Conclusion: GWG is one of the most important predictors for PPWR. The key to reducing PPWR is to control GWG systematically. Early targeted interventions and health education should be taken to prevent women from excessive PPWR at the first-year postpartum, in particular to the women who underwent cesarean deliveries and breastfed their infants. It is conducive to reduce the risks of overweight or obesity caused by PPWR.
Body Mass Index ; Female ; Gestational Weight Gain ; Humans ; Obesity ; Overweight ; Postpartum Period ; Pregnancy