Objective To identify the GNAS gene mutation resulting in pseudohypoparathyroidism type Ⅰa (PHP-Ⅰa) in one patient. Methods The clinical data of a patient with pseudohypoparathyroidism type Ⅰa was retrospectively analyzed. All the 13 exons of GNAS were sequenced using Sanger method for the patient and the parents. The distribution of suspected causal mutation was screened in 478 healthy controls. To clarify the origin of the mutation, we performed targeted high-depth sequencing of GNAS exon harboring the mutation for the patient and the parents. Results The clinical data of the patient with the laboratory results of hypocalcaemia, hyperphosphataemia, elevated serum PTH, together with the features of AHO, conformed to the characterization of PHP-Ⅰa. The sequencing of GNAS exons identified a missense mutation (c.479G>C, p.R160P) located at exon 6 in the patient, which was absent in DNA of the parents. The mutation was not reported previously and was not found in the 478 healthy controls. We obtained about 8000-fold coverage from high-depth sequencing of DNA from peripheral blood of the patient and the parents. The disease-associated allele C identified in the patient was not observed in the parents. The number of reads with G allele (3984 reads) was roughly equal to that of C allele (4019 reads) from the targeted reanalysis of DNA of the patient. The results from high-depth sequencing indicated a de novo mutation in maternal germ cells. Conclusions We identified a new GNAS gene mutation (c.479G>C, p.R160P) caused PHP-Ia in a patient. Our results suggested the mutation was a maternal germline de novo mutation.

Objective T o analyse the genetic polym orphism s of 66 biallelic genetic m arkers on Y chro-m osom e in E astern C hinese H an population, and evaluate their values in forensic application. Methods G enotyping of 66 biallelic genetic m arkers on Y chrom osom e w as studied in 205 unrelated m ales of E astern C hinese H an population by m ultiplex PC R com bined m atrix-assisted laser desorption/ionization tim e-of-flight m ass spectrom etry (M A L D I-T O F-M S ). T he allele frequencies on the loci to be tested w ere calculated by direct counting m ethod, and the gene diversity (G D ) and haplotype diversity (H D ) w ere calculated by corresponding form ulas. T he haplotypes of this system w ere tested by softw are A rlequin v3.5.2.2 and the com parison of population genetics w ere analyzed. Results A total of 60 biallelic genetic m arkers on Y chrom osom e w ere polym orphic in m ales of E astern C hinese H an population, and the ranges of G D w ere from 0.0385 to 0.5019. E ighty-five different haplotypes w ere observed and the H D w as 0.9703. T he differences of partial SN P loci betw een the H an population of E astern C hina and that of X injiang and G uangdong w ere statistically significance. Conclusion Sixty biallelic genetic m arkers and the detection system can com plem entally provide genetic inform ation in kinship testing and individual identification. T he M A L D I-T O F-M S technology is able to type biallelic genetic m arkers.

The acupoint sensitization theory,a breakthrough in acupuncture and moxibustion over the past two decades,has greatly enhanced the understanding of meridians and acupoints while increasing the effectiveness of clinical diagnosis and treatment in acupuncture and moxibustion practices.The number of studies on surface sensitization site detection for different diseases is increasing.However,systematic sorting and a summary of the detection mode of surface sensitization points are lacking.Therefore,this study categorizes the method of surface sensitization point detection into two modes:pan-scanning and focused scanning.The classification is based on the characteristics of the openness of the research purpose,the precision of the target range,and the degree of variation during detection.The two modes have considerable differences in the exploration efficiency and the presentation of result.The pan-scanning mode can be further subdivided into holistic and localized pan-scanning modes,whereas the focused-scanning mode can be subdivided into fixed-and variable-focused scanning modes.This study analyzes the application scenarios,characteristics,advantages,and limitations of each detection mode and presents opinions on mode selection,mode innovation,and future development directions.This study aims to provide valuable insights and guidance for the follow-up research on surface sensitization site detection of various diseases.

The coronary artery disease is a frequent severe disease of cardiovascular system in recent years. Meanwhile, lung cancer, with its high morbidity and mortality, is the most frequent malignant tumor of respiratory system in the world. Clinical studies have shown that the incidence of coronary artery disease and lung cancer is high throughout the year, and comorbidities are becoming more common, especially in elderly patients. The incidence of lung cancer and coronary heart disease may be related. This article summarizes the common risk factors (smoking and environmental pollution, fibrinogen, estrogen, and age), and treatment (surgical treatment, neoadjuvant therapy, and targeted therapy) progress of the two diseases, providing a theoretical basis for clinical prevention and treatment.

OBJECTIVE：To systematically evaluate the safety of Chloral hydr ate（CH）oral solution for sedative and hypnotic in children，and to provide evidence-based reference for clinical use. METHODS ：Retrieved from 9 electronic databases （PubMed， Cochrane Library ，Embase，CINAHL，International Pharmaceuticals ，CNKI，CBM，Wanfang Database ，VIP），3 clinical trial registry platforms （Clinical Trials ，Cochrane Clinical Trial Database ，WHO Clinical Trial Database ）and 18 adverse drug reaction （ADR）monitoring systems （ADR monitoring websites of WHO ，USA，Switzerland，China and other countries/areas/international organizations），during the date of database establishment to March 2019，the reports of randomized controlled trials ，cohort studies，case-control studies ，case series studies ，case reports ， cross-sectional studies and adverse reactions monitoring network of chloral hydrate versus other interventions （blank 85503205。E-mail：chenzhehx@163.com control，placebo or other sedative hypnotics ）for children ’s sedative and hypnotic safety were collected. After data extraction of included literatures met inclusion criteria ，quality mail：zhanglingli@scu.edu.cn evaluation of included s tudies with Cochrane bias risk evaluation manual （RCT），Newcastle-Ottawa scale evaluation tool （Cohort study and case control study ），Australian JBI quality assessment tool （case series study and case report study ），Meta-analysis was performed by Rev Man 5.3 software，or descriptive analysis was conducted. RESULTS ：A total of 54 studies were included ，among which there were 13 RCTs，9 cohort studies ，17 case series studies ，13 case reports ，and 2 reports from ADR monitoring network. Based on the results of RCT and cohort studies ， the incidence of Chloral hydrate oral solution adverse events was 7.25％. There was no statistical significance in the incidence of digestive system [RR ＝0.87，95％ CI（0.14，5.42），P＝0.88]，nervous system [RR ＝0.13，95％ CI（0.01，2.41），P＝0.17]， cardiovascular system [RR ＝2.12，95％ CI（0.08，56.57），P＝0.65] adverse event between Chloral hydrate oral solution and midazolam. The incidence of respiratory system adverse events induced by Chloral hydrate oral solution was higher than that of midazolam [RR ＝3.07，95％CI（1.94，4.86），P＜0.01]. There was no statistical significance in the incidence of digestive system adverse events between Chloral hydrate oral solution and diazepam [RR ＝0.71，95％CI（0.47，1.10），P＝0.13]. There was no statistical significance in the incidence of digestive system ，nervous system and cardiovascular system adverse events between Chloral hydrate oral solution and barbiturates （P＞0.05）. CONCLUSIONS ：Chloral hydrate oral solution is similar to midazolam ， diazepam and barbiturates in terms of digestive ，nervous and cardiovascular systems adverse events ，but the incidence of respiratory system adverse events is higher than midazolam.

OBJECTIVE： To establish the management system for off-label drug use in a medical institutions， and to standardize the behaviors of off-label drug use and improve the rational drug use. METHODS： Based on evidence-based researches for off-label drug use， management system of off-label drug use was established in our hospital， and off-label drug use management was carried out. The effects of management system were evaluated with the number of records for off-label drug use and pass rate of approval as indexes. RESULTS： Since the year of 2011， the management system for off-label drug use had gradually established and improved in our hospital； the mode of registration and approval for off-label drug use was established by based on a multi-disciplinary team management and quality classification for clinical evidence. Up to 2016， a total of 252 records for off-label use were submitted， among which 159 （accounting for 59.77％） were for pediatrics and 93 （accounting for 34.96％） were for gynecology and obstetrics. Among the submitted records， 181 had passed the examination and approval， and the pass rate was 64.29％. Special prescription comments indicated that the numbers of off-label use medical orders in inpatient medical orders showed a downward trend， and the proportion of recorded medical orders of off-label use had increased from 17.33％ in 2013 to 84.00％ in 2016. CONCLUSIONS： The management system for off-label drug use in medical institutions can effectively improve the clinical understanding of off-label drug use， standardize the behavior of off-label drug use.

OBJECTIVE： To descriptively analyze the status quo of medication therapy management （MTM） at home and abroad， and to provide reference for the development of MTM in China. METHODS：Retrieved from PubMed， Embase， Cochrane Library， CNKI， VIP， Wanfang database， CBM，and simultaneously searched Google and Baidu， retrieve time from the database establishment to March 2019， Chinese retrieval words： “medication therapy management”， English retrieval words： “Medication therapy management” “Management”“Medication therapy”“Therapy management”“Medication”“Drug therapy management”， etc. Domestic and foreign MTM literatures were included. Descriptive analysis was conducted in terms of literature publication， research type distribution， disease distribution and the status quo of MTM literatures in women and children. The necessity and feasibility of MTM in the field of women and children were analyzed. RESULTS & CONCLUSIONS： A total of 403 MTM related literatures （344 foreign， 59 domestic） were included. Among them， the foreign MTM literatures had 154 secondary researches and 190 original studies， clinical value， economic value and humanistic value of MTM were studied in repsects of service providers， service objects， service processes， service effects and other parties. Domestic MTM literatures had 37 secondary researches and 22 original researches， which mainly introduced the US MTM， including implementation background， concept， elements， application status， etc.； the significance and prospects of MTM in China were analyzed. Domestic and foreign MTM literatures mostly focused on chronic diseases in the elderly， mainly endocrine and cardiovascular diseases， such as hypertension， diabetes， and kidney disease. 11 studies about women and children MTM were included （women 5 studies and children 6 studies）； 4 of them were review， 5 were cross-sectional studies， and 2 were case reports. The effects of women and children MTM were introduced in the included literatures from the times of interventions， the number of drug-related problems prevention or improvement， the patient’s clinical outcomes， etc. MTM studies have great differences between at home and aboard in terms of the number of literatures， research types and contents. The researches focus on the field of chronic diseases in the elderly， and there is little literature on MTM in the field of women and children. It is necessary to provide MTM services for women and children in the light of the Millennium Development Goals proposed by the United Nations and the increasing problem of women and children medication. It is suggested to use the MTM model to develop women and children chronic disease pharmaceutical service so as to promote the transformation of pharmacists and improve the quality of pharmaceutical care.

OBJECTIVE To explore the pharmaceutical service model in multidisciplinary diagnosis and treatment （MDT） of rare diseases in children. METHODS Clinical pharmacists of West China Second University Hospital （hereinafter referred to as “our hospital”） participated in the process of MDT of children’s rare diseases. Clinical pharmacists took part in the entire diagnosis and treatment process of children and established the MDT pharmaceutical service model of children’s rare diseases by formulating drug treatment plans based on evidence-based practice， improving the accessibility of drugs， pharmaceutical monitoring and drug treatment management. RESULTS From January 2021 to April 2022， clinical pharmacists of our hospital had participated in a total of 39 cases of rare diseases MDT in children， including 21 hospitalized children with rare diseases and 18 outpatient com children with rare diseases， involving a total of 23 rare diseases. Clinical pharmacists completed 45 pharmaceutical zhanglingli@scu.edu.cn rounds and 26 pharmaceutical consultations for rare diseases inpatients， 25 outpatients’ MDT and 5 pharmaceutical outpatient service for outpatients with rare diseases， 38 medication educations for inpatients and outpatients with rare diseases and 25 follow-up services for out-of-hospital patients. There were 24 cases （61.54%） of off-label drug use， involving 13 rare diseases and 16 therapeutic drugs， among which off-label drug use registration of 11 drugs had been completed or was in progress. The temporary purchase evaluations of 3 drugs had been completed； 268 cases of medical insurance drug and high-value drug prescription had been reviewed. CONCLUSIONS Our hospital have primarily established a loop pharmaceutical service model of MDT for children with rare diseases， which covers inpatients and outpatients. The model improves the availability and standardization of clinical application of therapeutic drugs， and diagnosis and treatment level for children with rare diseases in our hospital.

OBJECTIVE To evaluate the effectiveness， safety， economy， innovation， suitability and accessibility of recombinant Mycobacterium tuberculosis fusion protein （EC）， and to provide evidence for selecting skin detection methods for tuberculosis infection diagnosis and auxiliary diagnosis of tuberculosis. METHODS The effectiveness and safety of EC compared with purified protein derivative of tuberculin （TB-PPD） were analyzed by the method of systematic review. Cost minimization analysis， cost-effectiveness analysis and cost-utility analysis were used to evaluate the short-term economy of EC compared with TB-PPD， and cost-utility analysis was used to evaluate the long-term economy. The evaluation dimensions of innovation， suitability and accessibility were determined by systematic review and improved Delphi expert consultation， and the comprehensive score of EC and TB-PPD in each dimension were calculated by the weight of each indicator. RESULTS The scores of effectiveness， safety， economy， innovation and suitability of EC were all higher than those of TB-PPD. The affordability scores of the two drugs were consistent， while the availability score of EC was lower than those of TB-PPD. After considering dimensions and index weight， the scores of effectiveness， safety， economy， innovation， suitability， accessibility and the comprehensive score of EC were all higher than those of TB-PPD. CONCLUSIONS Compared with TB-PPD， EC performs better in all dimensions of effectiveness， safety， economy， innovation， suitability and accessibility. However， it is worth noting that EC should further improve its availability in the dimension of accessibility.