OBJECTIVE To provide certain therapeutic ideas and references for the pharmaceutical care of severe Legionella pneumonia in anti-infection treatment. METHODS Clinical pharmacists participated in the entire treatment process of a patient with severe Legionella pneumonia， and assisted clinical physicians in evaluating the infecting pathogens using the WUH （Winthrop- University Hospital criteria） scoring system， based on the patient’s clinical symptoms， physical signs， and changes in pulmonary imaging. Leveraging their pharmaceutical expertise， clinical pharmacists recommended a combination of piperacillin sodium and tazobactam with moxifloxacin hydrochloride for anti-infection treatment， and closely monitored the patient’s clinical manifestations. They promptly identified delirium and abnormally elevated levels of lipase， amylase and liver enzymes， and successively suggested adjusting the treatment plan to a combination of piperacillin sodium and tazobactam with doxycycline or azithromycin for anti- infection after analyzing the causes， along with liver protection treatment， enteral nutrition， and parenteral nutrition. Additionally， clinical pharmacists closely monitor the patient’s medication adherence and provide her with medication education. RESULTS The clinical physicians accepted the recommendations of the clinical pharmacists， and the patient improved after treatment and was discharged. A follow-up examination one month later showed no recurrence. CONCLUSIONS Clinical pharmacists， when assisting clinicians in treating severe Legionella pneumonia， not only pay attention to changes in the patient’s clinical symptoms and physical signs， but also closely monitor the adverse reactions of fluoroquinolone， tetracycline， and macrolide antibiotics. They should promptly recognize adverse reactions and provide recommendations for adjusting treatment plans， as well as offer comprehensive pharmaceutical care throughout the patient’s treatment， to ensure the effectiveness and safety of clinical therapy.

Objective To investigate the induction factors of hypotension during cesarean section for perilous placenta previa under combined spinal-epidural anesthesia (CSEA) and to construct a nomogram prediction model. Methods A total of 130 parturients who underwent cesarean section for perilous placenta previa under CSEA from January 2020 to December 2023 in Yulin Maternity and Child Healthcare Hospital were selected as study subjects. A self-designed general information questionnaire was used to investigate the basic information and the occurrence of hypotension of the subjects. According to the occurrence of intraoperative hypotension, the patients were divided into hypotension group (47 cases) and non-hypotension group (83 cases). Univariate analysis was performed on the general information of the two groups, and multivariate Logistic regression analysis was used to explore the induction factors of intraoperative hypotension. Results Univariate analysis showed that there were statistically significant differences in body mass index, anesthesia level, presence of multiple pregnancy, preoperative systolic blood pressure, operative time, and the occurrence of Bezold-Jarisch reflex between the two groups (P < 0.05). Multivariate Logistic regression analysis revealed that body mass index≥ 24 kg/m², anesthesia level was in the eighth thoracic vertebra(T8) or above, multiple pregnancy, preoperative systolic blood pressure < 90 mmHg, operative time >1.5 h, and the occurrence of Bezold-Jarisch reflex were independent risk factors for hypotension during cesarean section for perilous placenta previa under CSEA (P < 0.05). A regression equation for the induction factors of hypotension during cesarean section for perilous placenta previa under CSEA was constructed: Logit(P)=-23.211+1.079×(body mass index ≥ 24 kg/m²)+1.101×anesthesia level (≥T8)+3.193×multiple pregnancy+2.214×preoperative systolic blood pressure (< 90 mmHg)+4.606×operative time (>1.5 h)+2.011×occurrence of Bezold-Jarisch reflex. The nomogram showed high discrimination and accuracy for patients with preoperative systolic blood pressure < 90 mmHg. After 1, 000 times of Bootstrap resampling for the nomogram model, a calibration curve was obtained, and the consistency index was calculated as 0.850, indicating good calibration of the nomogram model. The receiver operating characteristic (ROC) curve was plotted, with an area under the curve of 0.896 and 95% confidence interval of 0.802 to 0.956, suggesting good predictive performance. Conclusion Body mass index ≥24 kg/m², anesthesia level ≥ T8, multiple pregnancy, preoperative systolic blood pressure < 90 mmHg, operative time >1.5 h, and the occurrence of Bezold-Jarisch reflex are induction factors for hypotension during cesarean section for perilous placenta previa under CSEA.

BACKGROUND: The clinical features of enthesitis in patients with psoriatic arthritis (PsA) have been reported in some Western countries, but data in China are very limited. This study aimed to describe the characteristics of enthesitis in Chinese patients with PsA and compared them with those in other cohorts. METHODS: Patients with PsA enrolled in the Chinese Registry of Psoriatic Arthritis (CREPAR) (December 2018 to June 2021) were included. Data including demographics, clinical characteristics, disease activity measures, and treatment were collected at enrollment. Enthesitis was assessed by the Spondyloarthritis Research Consortium of Canada (SPARCC), Maastricht ankylosing spondylitis enthesitis score (MASES), and Leeds enthesitis index (LEI) indices. A multivariable logistic model was used to identify factors related to enthesitis. We also compared our results with those of other cohorts. RESULTS: In total, 1074 PsA patients were included, 308 (28.7%) of whom had enthesitis. The average number of enthesitis was 3.3 ± 2.8 (range: 1.0-18.0). More than half of the patients (165, 53.6%) had one or two tender entheseal sites. Patients with enthesitis had an earlier age of onset for both psoriasis and arthritis, reported a higher proportion of PsA duration over 5 years, and had a higher percentage of axial involvement and greater disease activity. Multivariable logistic regression showed that axial involvement (odds ratio [OR] 2.21, 95% confidence interval [CI], 1.59-3.08; P <0.001), psoriasis area and severity index (PASI) (OR: 1.03, 95% CI: 1.01-1.04; P = 0.002), and disease activity score 28-C reactive protein (DAS28-CRP) (OR: 1.25, 95% CI: 1.01-1.55; P = 0.037) were associated with enthesitis. Compared with the results of other studies, Chinese patients with enthesitis had a younger age, lower body mass index (BMI), a higher rate of positive human leukocyte antigen (HLA)-B27, more frequent dactylitis, and a higher proportion of conventional synthetic disease-modifying antirheumatic drugs' (csDMARDs) use. CONCLUSIONS Enthesitis is a common condition among Chinese patients with PsA. It is important to evaluate entheses in both peripheral and axial sites.
Humans ; Arthritis, Psoriatic/drug therapy* ; East Asian People ; Enthesopathy/complications* ; Registries ; Severity of Illness Index ; Spondylarthritis/epidemiology*

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

OBJECTIVE: To explore the genetic basis for a girl featuring epilepsy, developmental delay and regression. METHODS: Clinical data of the patient was collected. Activities of hexosaminidase A (Hex A) and hexosaminidase A&B (Hex A&B) in blood leukocytes were determined by using a fluorometric assay. Peripheral blood samples were collected from the proband and six members from her pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: Enzymatic studies of the proband have shown reduced plasma Hex A and Hex A&B activities. Genetic testing revealed that she has carried c.1260_1263del and c.1601G>C heterozygous compound variants of the HEXB gene. Her mother, brother and sister were heterozygous carriers of c.1260_1263del, while her father, mother, three brothers and sister did not carry the c.1601G>C variant, suggesting that it has a de novo origin. Increased eosinophils were discovered upon cytological examination of peripheral blood and bone marrow samples. CONCLUSION The compound heterozygous variants of c.1260_1263del and c.1601G>C of the HEXB gene probably underlay the Sandhoff disease in this child. Eosinophilia may be noted in infantile Sandhoff disease.
Child ; Eosinophilia/genetics* ; Female ; Genetic Testing ; Hexosaminidase A/genetics* ; Hexosaminidase B/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Sandhoff Disease/genetics*

Objective:To translate the English version of the Medical Office Survey on Patient Safety Culture (MOSPSC) into Chinese, and conduct cross-cultural adjustment and reliability and validity tests.Methods:After obtaining the authorization and consent of the original questionnaire agency in May 2018, forward translation, synthesis, back translation and expert consultation of the English version of MOSPSC were carried out to form the Chinese version of MOSPSC. From December 2018 to January 2019, convenience sampling was used to select the outpatient staff working in five ClassⅢ general hospitals in Chengdu as the research object to evaluate the reliability and validity of the questionnaire.Results:A total of 420 questionnaires were distributed, 396 valid questionnaires were recovered. The Chinese version of MOSPSC included 10 dimensions, 38 items, and another 3 items to investigate and evaluate the status quo of outpatient quality and safety issues. The Cronbach's alpha coefficient of the questionnaire was 0.901 for the employee level and 0.978 for the management level. The split-half reliability of the questionnaire was 0.907 for the employee level, 0.971 for the management level, and 0.408 to 0.975 for each dimension. The test-retest reliability of the employee level of the questionnaire was 0.960, and the test-retest reliability of each dimension was from 0.438 to 0.943. The item-level content validity index of the questionnaire was from 0.66 to 1.00, and the average scale-level content validity index of the questionnaire was 0.91.Conclusions:The Chinese version of MOSPSC maintains good equivalence with the source questionnaire after strict cross-cultural adjustment, and has good content validity, internal consistency reliability and test-retest reliability, which is suitable for the investigation of patient safety culture in the outpatient setting of China.

Objective:To construct the admission standard and job responsibility scheme for oncology nurse navigator (ONN) .Methods:Through literature analysis, semi-structured interview, group discussion and pre-consultation, the admission criteria and job responsibility scheme of ONN were preliminarily constructed. Using the purposive sampling method, a total of 22 experts from 16 hospitals in 11 provinces and cities including Sichuan, Xi'an, Chongqing, Wuhan, Shanghai, Hangzhou, Xiamen, Guangzhou, Tianjin, Beijing and Changsha were selected as the research objects from October to December 2021. Using the Delphi method, 22 experts were consulted for 2 rounds, and the AHP was used to determine the index weights.Results:The effective recovery rates of the two rounds of expert consultation were 91% (20/22) and 100% (20/20) , respectively. In the second round, the authority coefficient of experts was 0.875, and the Kendall's coordination coefficients of admission standard and job responsibilities were 0.164, 0.303 and 0.150, 0.203, 0.238, respectively (all P<0.05) . The final formed ONN admission standard and job responsibility scheme included 4 first-level indicators and 22 second-level indicators of the admission standard and 4 first-level indicators, 15 second-level indicators and 49 third-level indicators for job responsibilities. Conclusions:The ONN admission standard and job responsibility scheme determined by expert consultation is scientific, feasible, practical and innovative, which can provide a theoretical basis for the training and implementation of ONNs in China.

Objective:To construct the admission standard and job responsibility scheme for oncology nurse navigator (ONN) .Methods:Through literature analysis, semi-structured interview, group discussion and pre-consultation, the admission criteria and job responsibility scheme of ONN were preliminarily constructed. Using the purposive sampling method, a total of 22 experts from 16 hospitals in 11 provinces and cities including Sichuan, Xi'an, Chongqing, Wuhan, Shanghai, Hangzhou, Xiamen, Guangzhou, Tianjin, Beijing and Changsha were selected as the research objects from October to December 2021. Using the Delphi method, 22 experts were consulted for 2 rounds, and the AHP was used to determine the index weights.Results:The effective recovery rates of the two rounds of expert consultation were 91% (20/22) and 100% (20/20) , respectively. In the second round, the authority coefficient of experts was 0.875, and the Kendall's coordination coefficients of admission standard and job responsibilities were 0.164, 0.303 and 0.150, 0.203, 0.238, respectively (all P<0.05) . The final formed ONN admission standard and job responsibility scheme included 4 first-level indicators and 22 second-level indicators of the admission standard and 4 first-level indicators, 15 second-level indicators and 49 third-level indicators for job responsibilities. Conclusions:The ONN admission standard and job responsibility scheme determined by expert consultation is scientific, feasible, practical and innovative, which can provide a theoretical basis for the training and implementation of ONNs in China.

Objective:To explore the clinical characteristics and treatment of a family with inherited generalized epilepsy with febrile seizures plus (GEFS + ) caused by the KCNT2 gene mutation and review the literature. Methods:Clinical data of a child with GEFS + and his family members who visited Department of Pediatric Neurology, Guangzhou Women and Children′s Medical Center in May 2019 were collected.DNA samples were collected from the peripheral blood of the proband, his parents, his elder brother, and his maternal grandparents, and genetic analysis and verification were performed using the next-generation sequencing technique.Using " KCNT2" as the key word, literature was retrieved from PubMed, China National Knowledge Infrastructure and Wanfang databases (up to August 2019). Results:The proband was a 3-year-old boy who was admitted to Guangzhou Women and Children′s Medical Center because of frequent epileptic seizures in the past 5 months.He presented with a binocular gaze and experienced 3 to 8 times of extremities myoclonic-spastic epileptic attacks every day.He had a history of 3 times of febrile seizures at the age of 2 years old.His seizures were refractory to Sodium valproate, Topiramate, Nitrazepam and Levetiracetam.His elder brother and mother had a history of childhood febrile seizures.Other members in the family had no history of convulsion.Ictal electroencephalogram showed general 1 Hz high voltage spike-slow waves.A heterozygous nonsense mutation of KCNT2 gene c. 574C>T(p.Q192X) that was never reported previously was detected in the proband, his brother, mother and maternal grandmother.Furthermore, no other family members carried the mutation at the c. 574 locus of the KCNT2 gene.No article in Chinese was found, and 2 articles in a language other than Chinese provided the complete data of 3 sporadic cases.Together with 4 cases in the family studied in this article, there were 7 cases and 4 mutation sites in KCNT2 gene.Of these mutations, there were 3 missense mutations and 1 nonsense mutation.Three sporadic patients presented with early infantile epileptic encephalopathy.The family of this study was characterized with febrile seizures and febrile seizures plus. Conclusions:A de novo mutation and phenotype of the KCNT2 gene is found in a family with GEFS + .It would expand the gene mutation spectrum and provide basis for family genetic counseling. KCNT2 mutation induced GEFS + is refractory to antiepileptic drugs.

Objective: Data from local cancer registries were pooled to estimate cancer incidence and mortality in China, 2015. Methods: Data submitted from 501 cancer registries were checked & evaluated according to the criteria of data quality control, and 368 registries′ data were qualified for the final analysis. Data were stratified by area (urban/rural), sex, age group and cancer sites, and combined with national population data to estimate cancer incidence and mortality in China, 2015. Chinese population census in 2000 and Segi′s population were used for age-standardized. Results: Total population covered by 368 cancer registries were 309 553 499 (148 804 626 in urban and 160 748 873 in rural areas). The percentage of morphologically verified cases (MV) and the percentage of death certificate-only cases (DCO) accounted for 69.34% and 2.09%, respectively, and the mortality to incidence ratio was 0.61. About 3 929 000 new cancer cases were reported in 2015 and the crude incidence rate was 285.83 per 100 000 population (males and females were 305.47 and 265.21 per 100 000 population). Age-standardized incidence rates by Chinese standard population (ASIRC) and by world standard population (ASIRW) were 190.64 and 186.39 per 100 000 population, respectively, with the cumulative incidence rate (0-74 age years old) of 21.44%. The cancer incidence and ASIRC were 304.96/100 000 and 196.09/100 000 in urban areas and 261.40/100 000 and 182.70/100 000 in rural areas, respectively. About 2 338 000 cancer deaths were reported in 2015 and the cancer mortality was 170.05/100 000 (210.10/100 000 in males and 128.00/100 000 in females). Age-standardized mortality rates by Chinese standard population (ASMRC) and by world standard population (ASMRW) were 106.72/100 000 and 105.84/100 000, respectively, with the cumulative incidence rate (0-74 age years old) of 11.94%. The cancer mortality and ASMRC were 172.61/100 000 and 103.65/100 000 in urban areas and 166.79/100 000 and 110.76/100 000 in rural areas, respectively. The most common cancer cases including lung, gastric, colorectal, liver and female breast, the top 10 cancer incidence accounted for about 76.70% of all cancer new cases. The most common cancer deaths including lung, liver, gastric, esophageal and colorectal, the top 10 cancer deaths accounted for about 83.00% of all cancer deaths. Conclusions The burden of cancer showed a continuous upward trend in China. Cancer prevention and control faces the problem of the disparity in different areas and different cancer burden between men and women. The cancer pattern in China presents the coexistence of the cancer patterns in developed and developing countries. The situation of cancer prevention and control is still serious in China.