Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Objective To evaluate the clinical efficacy of Shengqing Jiangzhuo(lifting lucid yang and lowering turbid yin)Acupuncture Method,based on the"turbidity-clearness interaction"theory,combined with western medicine in treating gouty nephropathy(GN)patients with damp-heat accumulation syndrome.Methods A total of 117 patients diagnosed with GN from September 2023 to September 2024 at the First Affiliated Hospital of Guangzhou University of Chinese Medicine Chongqing Hospital were enrolled and randomly divided into three groups,with 39 cases in each group.The western medicine group received Febuxostat Tablets,the control group was given western medicine+conventional acupuncture,and observation group was given western medicine+Shengqing Jiangzhuo Acupuncture Method.All groups received 4 weeks of treatment.Clinical efficacy,traditional Chinese medicine(TCM)syndrome scores,visual analogue scale(VAS)of pain scores,and laboratory parameters—including serum uric acid(UA),blood urea nitrogen(BUN),creatinine(Scr),estimated glomerular filtration rate(eGFR),β2-microglobulin(β2-MG),24-hour urinary protein(24h-UTP),cystatin C(CysC)were assessed.The erythrocyte sedimentation rate(ESR),and C-reactive protein(CRP)were compared before and after treatment.Results(1)The total effective rate was 71.79%(28/39)in the western medicine group,84.62%(33/39)in the control group,and 92.31%(36/39)in the observation group.The observation group demonstrated statistically significant superiority over the western medicine group(P＜0.05),while showing marginally better efficacy than the control group without statistical significance(P＞0.05).(2)After treatment,all three groups exhibited significant improvements in ESR,CRP,and UA levels(P＜0.05).The observation group significantly outperformed the other two groups in reducing ESR and CRP levels(P＜0.05),and was statistically superior to the western medicine group in lowering UA levels(P＜0.05),though no significant difference was observed versus the control group for UA improvement(P＞0.05).The control group showed significantly greater reductions in ESR,CRP,and UA levels than the western medicine group(P＜0.05).(3)After treatment,Scr,BUN,and eGFR levels were significantly improved in all groups(P＜0.05).The observation group achieved significantly better improvements in Scr and eGFR than the other two groups(P＜0.05).However,no statistical difference existed between the control and western medicine groups for Scr or eGFR enhancement(P＞0.05).No intergroup differences were detected in BUN improvement(P＞0.05).(4)Significant differences emerged in β2-MG and CysC levels among all groups after treatment(P＜0.05).Both observation and control groups demonstrated statistically significant improvements in 24-hour 24h-UTP(P＜0.05),whereas the western medicine group showed no significant change(P＞0.05).The observation group significantly outperformed the other groups in reducing 24h-UTP and β2-MG levels(P＜0.05),and was superior to the western medicine group in lowering CysC(P＜0.05),though no difference versus the control group was observed for CysC reduction(P＞0.05).The control group showed no statistical advantage over the western medicine group in improving 24h-UTP,β 2-MG,or CysC(P＞0.05).(5)After treatment,TCM syndrome scores and VAS scores were significantly improved in all groups(P＜0.05).The observation group achieved significantly greater reductions in TCM syndrome scores and VAS scores than the western medicine group(P＜0.05).The control group showed statistically superior VAS score improvement versus the western medicine group(P＜0.05),but no significant differences emerged in TCM syndrome score improvement compared to either group(P＞0.05).No statistical difference existed between observation and control groups for VAS score reduction(P＞0.05).Conclusion Shengqing Jiangzhuo Acupuncture Method,grounded in the"turbidity-clearness interaction"theory,effectively reduces serum UA,controls inflammation,and preserves renal function in damp-heat accumulation type of GN,demonstrating significant therapeutic benefits.

Electroencephalogram (EEG) is a non-invasive, high temporal-resolution technique for monitoring brain activity. However, affected by the volume conduction effect, EEG has a low spatial resolution and is difficult to locate brain neuronal activity precisely. The surface Laplacian (SL) technique obtains the Laplacian EEG (LEEG) by estimating the second-order spatial derivative of the scalp potential. LEEG can reflect the radial current activity under the scalp, with positive values indicating current flow from the brain to the scalp (“source”) and negative values indicating current flow from the scalp to the brain (“sink”). It attenuates signals from volume conduction, effectively improving the spatial resolution of EEG, and is expected to contribute to breakthroughs in neural engineering. This paper provides a systematic overview of the principles and development of SL technology. Currently, there are two implementation paths for SL technology: current source density algorithms (CSD) and concentric ring electrodes (CRE). CSD performs the Laplace transform of the EEG signals acquired by conventional disc electrodes to indirectly estimate the LEEG. It can be mainly classified into local methods, global methods, and realistic Laplacian methods. The global method is the most commonly used approach in CSD, which can achieve more accurate estimation compared with the local method, and it does not require additional imaging equipment compared with the realistic Laplacian method. CRE employs new concentric ring electrodes instead of the traditional disc electrodes, and measures the LEEG directly by differential acquisition of the multi-ring signals. Depending on the structure, it can be divided into bipolar CRE, quasi-bipolar CRE, tripolar CRE, and multi-pole CRE. The tripolar CRE is widely used due to its optimal detection performance. While ensuring the quality of signal acquisition, the complexity of its preamplifier is relatively acceptable. Here, this paper introduces the study of the SL technique in resting rhythms, visual-related potentials, movement-related potentials, and sensorimotor rhythms. These studies demonstrate that SL technology can improve signal quality and enhance signal characteristics, confirming its potential applications in neuroscientific research, disease diagnosis, visual pathway detection, and brain-computer interfaces. CSD is frequently utilized in applications such as neuroscientific research and disease detection, where high-precision estimation of LEEG is required. And CRE tends to be used in brain-computer interfaces, that have stringent requirements for real-time data processing. Finally, this paper summarizes the strengths and weaknesses of SL technology and envisages its future development. SL technology boasts advantages such as reference independence, high spatial resolution, high temporal resolution, enhanced source connectivity analysis, and noise suppression. However, it also has shortcomings that can be further improved. Theoretically, simulation experiments should be conducted to investigate the theoretical characteristics of SL technology. For CSD methods, the algorithm needs to be optimized to improve the precision of LEEG estimation, reduce dependence on the number of channels, and decrease computational complexity and time consumption. For CRE methods, the electrodes need to be designed with appropriate structures and sizes, and the low-noise, high common-mode rejection ratio preamplifier should be developed. We hope that this paper can promote the in-depth research and wide application of SL technology.

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations. Observationally, a history of gallstones without cholecystectomy was associated with a high risk of stomach cancer (adjusted odds ratio (aOR)=2.54, 95% confidence interval (CI) 1.50-4.28), liver and bile duct cancer (aOR=2.46, 95% CI 1.17-5.16), kidney cancer (aOR=2.04, 95% CI 1.05-3.94), and bladder cancer (aOR=2.23, 95% CI 1.01-5.13) in the general population, as well as cervical cancer (aOR=1.69, 95% CI 1.12-2.56) in women. Moreover, cholecystectomy was associated with high odds of stomach cancer (aOR=2.41, 95% CI 1.29-4.49), colorectal cancer (aOR=1.83, 95% CI 1.18-2.85), and cancer of liver and bile duct (aOR=2.58, 95% CI 1.11-6.02). MR analysis only supported the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer. This study added evidence to the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer, highlighting the importance of cancer screening in individuals with gallstones.
Humans ; Mendelian Randomization Analysis ; Gallstones/complications* ; Female ; Male ; Cholecystectomy/statistics & numerical data* ; Middle Aged ; Risk Factors ; Aged ; Adult ; Neoplasms/etiology* ; Stomach Neoplasms/epidemiology*

OBJECTIVE To summarize the current situation of pharmaceutical clinic service in our hospital over the past five years， and explore sustainable development strategies for service models of pharmaceutical clinics. METHODS A retrospective analysis was conducted on the consultation records of patients who registered and established files at the pharmaceutical clinic in our hospital from January 2019 to December 2023. Statistical analysis was performed on patients’ general information， medication- related problems， and types of pharmaceutical services provided by pharmacists. RESULTS A total of 963 consultation records were included， among which females aged 20-39 years accounted for the highest proportion （66.04%）； obstetrics and gynecology- related consultations accounted for the largest number of cases. Additionally， 80 patients attended follow-up visits at our hospital’s pharmaceutical clinic. A total of 1 029 medication-related issues were resolved， including 538 cases of drug consultations （52.28%）， 453 medication recommendations （44.02%）， 22 medication restructuring（2.14%）， and 16 medication education （1.55%）； the most common types of medication-related problems identified were adverse drug events（70.07%）. CONCLUSIONS Although the pharmaceutical clinic has achieved recognition from clinicians and patients， challenges such as low awareness among healthcare providers and the public persist. Future efforts should focus on strengthening information technology construction， enhancing pharmacist training， and establishing various forms of outpatient pharmaceutical service models.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

OBJECTIVE: To investigate possible associations between physical function assessment scales, such as Short Physical Performance Battery (SPPB) and Berg Balance Scale (BBS), with all-cause mortality in acute decompensated heart failure (ADHF) patients. METHODS: A total of 108 ADHF patients were analyzed from October 2020 to October 2022, and followed up to May 2023. The association between baseline clinical characteristics and all-cause mortality was analyzed by univariate Cox regression analysis, while for SPPB and BBS, univariate Cox regression analysis was followed by receiver operating characteristic curves, in which the area under the curve represented their predictive accuracy for all-cause mortality. Incremental predictive values for both physical function assessments were measured by calculating net reclassification index and integrated discrimination improvement scores. Optimal cut-off value for BBS was then identified using restricted cubic spline plots, and survival differences below and above that cut-off were compared using Kaplan-Meier survival curves and the log-rank test. The clinical utility of BBS was measured using decision curve analysis. RESULTS: For baseline characteristics, age, female, blood urea nitrogen, as well as statins, angiotensin-converting enzyme inhibitors, angiotensin II receptor blockers, or angiotensin receptor-neprilysin inhibitors, were predictive for all-cause mortality for ADHF patients. With respect to SPPB and BBS, higher scores were associated with lower all-cause mortality rates for both assessments; similar area under the curves were measured for both (0.774 for SPPB and 0.776 for BBS). Furthermore, BBS ≤ 36.5 was associated with significantly higher mortality, which was still applicable even adjusting for confounding factors; BBS was also found to have great clinical utility under decision curve analysis. CONCLUSIONS BBS or SPPB could be used as tools to assess physical function in ageing ADHF patients, as well as prognosticate on all-cause mortality. Moreover, prioritizing the improvement of balance capabilities of ADHF patients in cardiac rehabilitation regimens could aid in lowering mortality risk.

Objective To compare the anti fungal efficacy and safety of amphotericin B cholesteryl sulfate complex(amphotericin B colloidal dispersion,ABCD)and amphotericin B for injection(amphotericin B deoxycholate,AmB-D)in the treatment of AIDS complicated with talaromycosis(TSM).Methods A total of 80 patients who were diagnosed with AIDS and complicated with TSM from December 2021 to January 2024 in Department of Infection,Kunming Third People's Hospital were included in the study.The patients were randomized to receive ABCD(n=40)via intravenous infusion or AmB-D(control,n=40)via Ⅳ infusion protected from light.The overall treatment efficacy rate,CD4+T lymphocyte count,routine blood tests,liver and kidney function tests,K+concentration,and the incidence of adverse drug reactions(ADR)during study were compared between the two treatment groups.Results The overall efficacy rate was 87.5％(35/40)in ABCD group and 80.0％(32/40)in the control(AmB-D)group(P＞0.05).WBC,hemoglobin,and platelet count were significantly higher after treatment compared with pretreatment levels(P＜0.05)in both groups.The CD4+T lymphocyte count was higher after treatment compared with pretreatment levels in both groups.And the CD4+T lymphocyte count in ABCD group was significantly higher than that in the control group(P＜0.05).The levels of total bilirubin,aspartate aminotransferase,alanine aminotransferase,blood urea nitrogen,and serum creatinine increased after treatment in both groups.Blood urea nitrogen and serum creatinine increased significantly in control group compared with ABCD group(P＜0.05).After treatment,serum K+concentration decreased significantly in control group compared with the pretreatment level and compared with ABCD group(P＜0.05).The incidence of adverse events in ABCD group was significantly lower than that in the control group.The time to renal injury was delayed significantly(P＜0.05).Conclusions In the treatment of AIDS complicated with TSM,the efficacy of ABCD was comparable to AmB-D.The incidence of hepatic impairment did not show significant difference between ABCD and AmB-D.However,ABCD is associated with less renal impairment,lower incidence of adverse events,and better safety,which is valuable for clinical use.