AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

Objective To investigate the effect of progressive muscle relaxation training intervention strategy in relieving fatigue of elderly patients with primary hepatocellular carcinoma(HCC)after receiving transcatheter arterial chemoembolization(T ACE),and to analyze its influencing factors.Methods Using convenience sampling method,a total of 150 elderly patients with HCC,who received TACE at a certain grade Ⅲ-A hospital at Peking of China from May 2021 to March 2023,were selected as the subjects of research.The patients were randomly divided into the study group and the control group,and progressive muscle relaxation training intervention strategy and conventional postoperative fatigue care method were employed respectively.The preoperative fatigue status and the postoperative fatigue recovery status were compared between the two groups,and the influencing factors were analyzed.Results In both groups,the postoperative one-day fatigue score was the highest,which was gradually decreased thereafter.The average recovery time of fatigue in the control group was 9.84 days,which in the study group was 6.16 days,the difference between the two groups was statistically significant(P=0.013).The body mass index(BMI),Child-Pugh classification,and preoperative grip strength index had an effect on the postoperative fatigue recovery time after intervention.A BMI of β=-0.953 and a preoperative grip strength index of β=-0.185 were negatively correlated with the postoperative fatigue recovery time after intervention,while a Child-Pugh classification of β=2.177 was positively correlated with the postoperative fatigue recovery time after intervention.Conclusion Progressive muscle relaxation training intervention strategy is helpful for shortening the postoperative fatigue recovery time in elderly patients with HCC after receiving TACE,and it is worth of promotion in clinical practice.The patient's nutrition and physical status such as BMI,hepatic reserve function and grip strength index,are the factors influencing the effectiveness of progressive muscle relaxation training intervention strategy.

Objective:To investigate the temporal expression of Growth Differentiation Factor-15 (GDF15) in the serum of patients with Acute Coronary Syndrome (ACS) and explore the clinical significance of GDF15 in protecting cardiomyocytes in ACS.Methods:A retrospective study was conducted on 289 ACS patients admitted to the emergency departments from February to October 2023. Data on gender, age, troponin T (TnT), creatine kinase isoenzyme (CK-MB), GDF15, and B-type natriuretic peptide (BNP) within 30 minutes of admission were recorded. Differences in these indicators among different groups were compared. Receiver Operating Characteristic (ROC) curves were plotted to evaluate the diagnostic value of GDF15, TnT, and BNP for ACS. Among the patients, 15 exhibited a temporal expression pattern of GDF15, and their blood samples were re-measured using a GDF15 fluorescent quantitative immunochromatographic assay kit. Fifteen patients without temporal expression were randomly selected as controls, and their samples were also re-measured to exclude detection errors. Fifteen patients with temporal expression were included in the temporal expression group, and 15 without temporal expression were included in the non-temporal expression group. Laboratory indicators such as fasting blood glucose, glycated hemoglobin, triglycerides, creatinine, and uric acid were compared between the groups. Additionally, patient age, gender, body mass index (BMI), coronary angiography results, echocardiography, Gensini score, left ventricular ejection fraction (LVEF), and GRACE risk score were recorded to assess their correlation with GDF15 temporal expression. Statistical analysis was performed using SPSS 27 software, with continuous data expressed as mean ± standard deviation (Mean ± SD) and compared using t-tests and χ2 tests. Results:The overall trend in ACS patients showed a higher proportion of males than females (73.36% vs. 26.64%). The oldest group was the Unstable Angina (UA) group, with a mean age of (63.98 ± 15.19) years, while the youngest group was the non-ACS chest pain group, with a mean age of (54.29 ± 16.39) years. A higher proportion of patients in the UA, ST-segment elevation myocardial infarction (STEMI), and non-ST-segment elevation myocardial infarction (NSTEMI) groups had a history of smoking. The combination of GDF15 and TnT showed high diagnostic value for ACS, with an area under the ROC curve (AUC) of 0.843, consistent with previous studies. Among all ACS patients, 15 exhibited a temporal expression pattern of GDF15, where GDF15 levels peaked at 4 hours, gradually decreased, and peaked again at 24 hours. Patients in the temporal expression group had higher LVEF and left ventricular end-systolic diameter compared to the non-temporal expression group. The Gensini score was lower in the temporal expression group, and the GRACE risk score was significantly lower in the temporal expression group (00.7±14.72) compared to the non-temporal expression group (116.1±23.46), with a statistically significant difference ( P = 0.0115). There were no significant differences in general characteristics (age, gender, BMI) or clinical biochemical indicators (fasting blood glucose, glycated hemoglobin, triglycerides, total cholesterol, high-density lipoprotein, low-density lipoprotein, creatinine, uric acid) between the temporal and non-temporal expression groups ( P > 0.05). Conclusions:GDF15 demonstrates significant diagnostic and prognostic predictive value in ACS. Patients with temporally dynamic expression of serum GDF15 exhibit milder myocardial injury and a lower probability of mortality. These findings provide novel therapeutic targets and research directions for further exploring the role of GDF15 in ACS management.

Objective To explore the mechanism by which T cell immunoglobulin and mucin domain-3(TIM-3)promotes the Hippo signaling pathway in the pathogenesis of preeclampsia.Methods HTR-8/Svneo cells were divided into a control group(Con),a recombinant human Tim-3 protein(Tim-3 Fc)group,a YAP1 inhibitor CA3 group and a Tim-3 Fc+CA3 group.Cell proliferation was analyzed by 5-ethynyl-2 '-deoxyuridine(EdU).Cell invasion and migration were evaluated by Transwell assay,and cell apoptosis was analyzed by terminal deoxynucleotidyl transferase dUTP nick end labeling(TUNEL)assay.Protein expression levels of TIM-3 and Hippo pathway components in HTR-8/SVneo cells were detected by Western Blot.Results Compared to the Con group,protein expression levels of TIM-3,YAP1 and TAZ were up-regulated in HTR-8/SVneo trophoblast cells of the TIM-3 Fc group(P<0.05).Compared to the TIM-3 Fc group,protein expression levels of YAP1 and TAZ were down-regulated in trophoblast cells of the TIM-3 Fc+CA3 group(P<0.05).Compared to the Con group,the rate of EdU positive cells in HTR-8/SVneo trophoblast cells in TIM-3 Fc group was increased significantly(P<0.05).Compared to the TIM-3 Fc group,the rate of EdU positive cells and the number of apoptotic cells in HTR-8/SVneo trophoblast cells of the TIM-3 Fc+CA3 group were decreased significantly(P<0.05).Compared to the Con group,the number of HTR-8/SVneo trophoblast cells in TIM-3 Fc group was increased significantly(P<0.05).Compared to the TIM-3 Fc group,the number of HTR-8/SVneo trophoblast cells in TIM-3 Fc+CA3 group was decreased significantly(P<0.05).Conclusions Tim-3 activates the Hippo pathway by interacting with YAP1 in trophoblast cells,thus promoting cell proliferation,invasion and migration.

OBJECTIVE To calculate the cost of centralized dispensing of four categories of drugs （ordinary drugs， antibacterial drugs， hazardous drugs， and parenteral nutrition solutions） in pharmacy intravenous admixture service （PIVAS）， and provide reference for setting charging standards for relevant departments. METHODS The operating costs of PIVAS in 12 medical institutions from Shaanxi province were collected through questionnaire survey， including labor costs， medical and health material costs， fixed asset depreciation and repair costs， water and electricity costs， and management costs. The operation time allocation coefficient method and workload allocation coefficient method were comprehensively used to allocate the above costs， and the unit preparation costs of four categories of drugs were calculated. RESULTS The average annual total costs of dispensing ordinary drugs， antibacterial drugs， hazardous drugs， and parenteral nutrition solutions in Shaanxi province were （2 195 900.25±1 680 893.73） yuan， （746 341.59±725 839.39） yuan， （331 420.15±183 258.83） yuan， and （330 322.68±277 281.70） yuan， respectively， with labor costs accounting for the highest proportion， averaging 85.49%. The costs of dispensing a set of ordinary drugs， antibacterial drugs， and hazardous drugs were 5.89， 7.60， and 14.37 yuan， respectively； the cost of dispensing one bag of parenteral nutrition solution was 32.15 yuan （excluding the cost of disposable intravenous nutrition bags）. CONCLUSIONS The cost calculation method and data of different types of intravenous drugs obtained in this study can provide reference for relevant departments to formulate and adjust PIVAS fee standards.

OBJECTIVE To calculate the cost of centralized dispensing of four categories of drugs （ordinary drugs， antibacterial drugs， hazardous drugs， and parenteral nutrition solutions） in pharmacy intravenous admixture service （PIVAS）， and provide reference for setting charging standards for relevant departments. METHODS The operating costs of PIVAS in 12 medical institutions from Shaanxi province were collected through questionnaire survey， including labor costs， medical and health material costs， fixed asset depreciation and repair costs， water and electricity costs， and management costs. The operation time allocation coefficient method and workload allocation coefficient method were comprehensively used to allocate the above costs， and the unit preparation costs of four categories of drugs were calculated. RESULTS The average annual total costs of dispensing ordinary drugs， antibacterial drugs， hazardous drugs， and parenteral nutrition solutions in Shaanxi province were （2 195 900.25±1 680 893.73） yuan， （746 341.59±725 839.39） yuan， （331 420.15±183 258.83） yuan， and （330 322.68±277 281.70） yuan， respectively， with labor costs accounting for the highest proportion， averaging 85.49%. The costs of dispensing a set of ordinary drugs， antibacterial drugs， and hazardous drugs were 5.89， 7.60， and 14.37 yuan， respectively； the cost of dispensing one bag of parenteral nutrition solution was 32.15 yuan （excluding the cost of disposable intravenous nutrition bags）. CONCLUSIONS The cost calculation method and data of different types of intravenous drugs obtained in this study can provide reference for relevant departments to formulate and adjust PIVAS fee standards.

Objective:To explore the independent factors influencing liver metastasis in young adults with colorectal cancer and to construct a nomogram model for predicting the risk of liver metastasis.Methods:SEER*Stat software version 8.4.1 was used to screen the data of patients from 18 registry sites of the Surveillance, Epidemiology, and End Results (SEER) database between 2010 and 2017. The data was updated in November 2020. A total of 1 023 patients under the age of 45 years pathologically diagnosed with young adult colorectal cancer were included, among which 325 cases had liver metastases. All patients were randomly divided into a training set (719 cases) and a validation set (304 cases) at a 7∶3 ratio. The proportions of patients with different age, gender, race, marital status, primary tumor site, tumor size, tumor differentiation degree, T stage, N stage, carcinoembryonic antigen (CEA) level, surgery and chemoradiotherapy treatments were compared between the 2 groups. Independent factors affecting the liver metastasis in young adult patients with colorectal cancer were identified by using univariate and multivariate logistic regression analyses, followed by the construction of a nomogram model for predicting the risk of liver metastasis. The predictive efficiency of a nomogram model was assessed by using the receiver operating characteristic (ROC) curve and the area under the curve (AUC); calibration curves and the Hosmer-Lemeshow goodness-of-fit test were used to assess the calibration, and decision curve analysis was used to evaluate the clinical utility and net benefit.Results:In the training set, 719 patients included 491 cases without liver metastasis and 228 cases with liver metastasis, while in the validation set, 304 patients included 207 cases without liver metastasis and 97 cases with liver metastasis. The differences in the proportions of patients with different age, gender, race, marital status, primary tumor site, tumor size, tumor differentiation degree, T stage, N stage, CEA level, surgery and chemoradiotherapy treatments between the training set and the validation set were not statistically significant (all P > 0.05). Multivariate logistic regression showed that male gender ( OR = 1.54, 95% CI: 1.02-2.32, P = 0.039), undifferentiation ( OR = 10.12, 95% CI: 2.07-49.46, P = 0.004), N staging (N 1 staging: OR = 5.96, 95% CI: 3.11-11.41, P < 0.001; N 2 staging: OR = 11.16, 95% CI: 5.66-22.02, P < 0.001), CEA positivity ( OR = 6.65, 95% CI: 4.38-10.10, P < 0.001), surgery of primary sites ( OR = 0.23, 95% CI: 0.10-0.52, P < 0.001), and radiotherapy ( OR = 0.56, 95% CI: 0.34-0.91, P = 0.019) were independent influencing factors of colorectal cancer young adult patients with liver metastasis. A nomogram model was constructed based on these factors. The AUC of the training set and validation set for predicting liver metastasis was 0.863 and 0.871, respectively. The Hosmer-Lemeshow goodness-of-fit test indicated a good model fit ( P = 0.862 for the training set, P = 0.623 for the validation set), and the calibration curve demonstrated a good consistency between the model for predicting the risk and the real risk, and the decision curve analysis showed a high clinical net benefit. Conclusions:The established nomogram model provides a reliable method for predicting the risk of liver metastasis in young adult patients with colorectal cancer.

The training of clinical pharmacists in pain specialists often focuses on the education of professional knowledge,while neglecting the important role of ethics in the teaching process.Ethical elements such as the patient's right to informed consent,privacy,health,autonomy have not received sufficient attention in the teaching process.This training model poses a potential threat to patients'rights and interests and may bring ethical risks to pharmacists.To improve teaching quality and avoid risks,lecturers and trainees should deeply understand and respect the various rights of patients,safeguard their right to health from infringement,and ensure that privacy is fully protected.In addition,the patient's right to informed consent should be implemented to allow them to make autonomous choices based on a full understanding of the treatment plan,and humanistic care should be strengthened so that patients can feel the warmth and care from the pharmacists.Through the implementation of ethical measures,the paper aims to provide useful inspirations and references for the teaching work of clinical pharmacists in pain specialists,thereby promoting clinical pharmacists to achieve comprehensive improvement in professional skills and ethical literacy,and better serving the majority of pain patients.

Objective:To develop a risk prediction model for early cardiac arrest in emergency sepsis utilizing a machine learning algorithm to enhance the quality and efficiency of patient treatment.Methods:This study focused on patients with sepsis who received treatment at the emergency room of the First Medical Center of Chinese PLA General Hospital from January 1, 2020 to June 1, 2023. The basic clinical characteristics such as vital signs and laboratory results were collected. Patients who fulfilled the specified inclusion criteria were allocated randomly into a training group and a testing group with a ratio of 8:2. A CatBoost model was constructed using Python software, and the prediction efficiency of the model was assessed by calculating the area under the receiver operating characteristic curve (AUC). Furthermore, the performance of the model was compared to that of other widely employed clinical scores.Results:This study included a cohort of 2 131 patients diagnosed with sepsis, among whom 449 experienced cardiac arrest. The CatBoost model demonstrated an AUC of 0.760, surpassing other scores. Notably, the top 10 predictors in the model were identified as age, lactate, interleukin -6, oxygen saturation, albumin, N-terminal pro-B-type natriuretic peptide, potassium, sodium, creatinine, and platelets.Conclusions:The utilization of this machine learning algorithm-based prediction model offers a more precise basis for predicting cardiac arrest in emergency sepsis patients, thereby potentially improving the treatment efficacy for this disease.