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 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.

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 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.

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.

Extracellular matrix (ECM) has been implicated in tumor progress and chemosensitivity. Ovarian cancer brings a great threat to the health of women with a significant feature of high mortality and poor prognosis. However, the potential significance of matrix stiffness in the pattern of long non-coding RNAs (lncRNAs) expression and ovarian cancer drug sensitivity is still largely unkown. Here, based on RNA-seq data of ovarian cancer cell cultured on substrates with different stiffness, we found that a great amount of lncRNAs were upregulated in stiff group, whereas SNHG8 was significantly downregulated, which was further verified in ovarian cancer cells cultured on polydimethylsiloxane (PDMS) hydrogel. Knockdown of SNHG8 led to an impaired efficiency of homologous repair, and decreased cellular sensitivity to both etoposide and cisplatin. Meanwhile, the results of the GEPIA analysis indicated that the expression of SNHG8 was significantly decreased in ovarian cancer tissues, which was negatively correlated with the overall survival of patients with ovarian cancer. In conclusion, matrix stiffening related lncRNA SNHG8 is closely related to chemosensitivity and prognosis of ovarian cancer, which might be a novel molecular marker for chemotherapy drug instruction and prognosis prediction.
Female ; Humans ; Cisplatin/pharmacology* ; Elasticity/physiology* ; Etoposide ; Extracellular Matrix/physiology* ; Ovarian Neoplasms/metabolism* ; RNA, Long Noncoding/metabolism*

Objective:To explore the effect of case management of chronic obstructive pulmonary disease (COPD) in the nurse-led clinics.Methods:A total of 50 patients with COPD who met the selection criteria in the outpatient department of the respiratory department of Shantou Central Hospital were enrolled from March 2019 to March 2020. Case management was carried out by specialist nurses in the outpatient department. Body Mass Index (BMI), the forced expiratory volume in one second/predicted value ratio (FEV 1%pred), modified British medical research council (mMRC), 6-min walking distance (6MWD), COPD assessment test (CAT), and St.George Respiratory Questionnaire (SGRQ), basic activities of daily living (BADL) were compared before and after 6 months′ case management. The difference of medication compliance after case management was also analyzed. Results:There were statistically significant differences in the mMRC[(1.9±1.2) vs (1.4±1.1) points], 6MWD[(238.1±84.9) vs (284.1±113.8) m] and CAT scores [(19.7±6.6) vs (17.1±5.9) points], which suggested the improvement of dyspnea, self-conscious symptoms and exercise performance in these patients (all P<0.05). The BADL scores [(87.8±5.4) vs (90.00±7.5) points] and the total score of SGRQ [(48.0±7.3) vs (45.0±6.9) points] were significantly different (both P<0.01). These indicators were improved after the implementation of case management. Patients were followed up for 1 month, 3 months and 6 months, and the improvement of medication compliance score was statistically significant [(7.1±0.8) vs (7.4±0.8) vs (7.7±0.5) points] ( P<0.01). Conclusion:The implementation of respiratory nursing clinic can effectively manage COPD patients, improve medication compliance of patients, so as to improve the degree of dyspnea, self-conscious symptoms, self-care ability and exercise endurance of patients.

OBJECTIVE： To investigate the status of sulfur fumigation of TCM and its decoction pieces， and to put forward the suggestions on limit standard of sulfur dioxide residue. METHODS： The information of 374 varieties of TCM and sulfur dioxide residue were collected from the provincial and municipal drug inspection institutions of 27 provinces，municipalities and autonomous regions in China during 2013-2017， and then summarized and analyzed. The average value，median value，maximum value，qualification rate and detection rate of sulfur dioxide residue of 121 varieties with the sample number ≥10 batches were classified and statistically analyzed. RESULTS： This investigation involved 374 varieties of TCM and its decoction pieces， and a total of 13 776 batches of samples. The average content of sulfur dioxide was 242 mg/kg，the median value was 27 mg/kg，and the maximum value was 8 782 mg/kg. The overall qualified rate was 79.7％. According to the results of classified statistics， among the 10 varieties whose limit shall not exceed 400 mg/kg，5 varieties，including Codonopsis pilosula， Radix Trichosanthis， Asparagus cochinchinensis， Pueraria lobata， Achyranthes bidentata， were seriously affected by sulfur fumigation，and the qualified rate was less than 80％. Among the varieties with the sample number≥30 batches， there was no or very little abuse of sulfur fumigation in 16 varieties， such as Carthamus tinctorius； 19 varieties， such as Eupolyphaga Steleophaga， had excessive sulfur fumigation， but it was not serious； 25 varieties，such as Lonicera japonica，had severe excessive sulfur fumigation. Among the varieties with the sample number of 10-29 batches，33 varieties including Ziziphus jujube seed had no or very little abuse of sulfur fumigation； 8 varieties including Cuscuta chinensis had excessive sulfur fumigation but were not serious； 10 varieties including Pericarpium Trichosanthis had serious excessive sulfur fumigation. CONCLUSIONS： For the varieties with no or very little excessive sulfur fumigation，it is recommended that batch testing should not be carried out and a single list should be made； for the varieties with sulfur fumigation or severe sulfur fumigation， it is suggested to increase the sulfur dioxide residue limit under all varieties in the 2020 edition of Chinese Pharmacopoeia， and set the limit for the varieties with severe sulfur fumigation to be no more than 400 mg/kg，while the limit for the 2025 edition of Chinese Pharmacopoeia can be reduced to no more than 150 mg/kg. Other varieties should retain the provisions of “sulfur dioxide residue of sulfur dioxide medicinal materials and decoction pieces （except for minerals） shall not exceed 150 mg/kg” in the general rules 0212 “for the identification of medicinal materials and decoction pieces” in the 2015 edition of Chinese Pharmacopoeia （part Ⅳ）.