OBJECTIVE:To provide reference for pharmacists to participate in the management of chronic disease. METHODS:A total of 259 patients with chronic airway disease [included asthma and chronic obstructive pulmonary disease (COPD)] met the inclusion criteria were selected from our hospital and 5 community health care centers of medical consortium. These patients received medication safety assessment management,which was led by clinical pharmacists of our hospital with the participation of community pharmacists,including medication safety comprehensive evaluation and risk classification management, follow-up and medication guidance, integrated prescriptions checking, establishment of shared database. 1 years after the implementation,the effectiveness were evaluated by score the relatived indicators in related groups. RESULTS:After a year of the management mode practice,compared with before intervention,the patients'safety medication cognitive ability score in high-risk and low-risk group increased from(4.49±1.26)and(7.31±1.01)to(5.40±1.56)and(7.44±0.91);medication adherence score increased from(4.96±1.21)and(7.08±1.24)to(6.66±1.08)and(7.38±0.98);ACT score from asthma patients increased from (16.15±2.58)and(21.15±1.03)to(16.80±2.57)and(21.64±1.55);CAT score from COPD patients decreased from(25.51± 4.07) and (14.90 ± 3.95) to (24.20 ± 3.96) and (13.80 ± 4.08);the rate of irrational prescription effective identification and intervention by pharmacists increased from 3.6％ and 1.4％ to 9.4％ and 7.6％,respectively. All the differences above were statistically significant (P<0.05). CONCLUSIONS:The participation of pharmacists in long-term medication safety assessment management for chronic airway disease patients can improve patients'safety medication cognitive ability,medication adherence, disease control and the pharmacists'ability of irrational drug use identification and intervention.

Objective To evaluate the anorectal function and its influencing factors in patients with mid and low rectal cancer.Methods Patients diagnosed with mid and low rectal cancer in Peking Union Medical College Hospital from September 2012 to November 2013 were consecutively enrolled in this study.We surveyed the defecation symptoms based on a questionnaire in the face-to-face interview manner and detected the anorectal functions using three-dimensional high-resolution manometry system.The patients were divided into mid and low groups according to the distance from the distal margin of tumor to the anal margin.Results A total of 66 pa-tients were enrolled in this study, including 45 males and 21 females, with a mean age of (58.86 ±10.99) years.There were 44 patients in the mid group and 22 patients in the low group.Hematochezia was the most common symptom (95.5%), frequent bowel movement occurred in 50.0% patients, abnormal bowel forms, urgency, sensation of incomplete defecation, and tenesmus occurred in 30.3%-40.9%of the patients.The occurrences of hematochezia, frequent bowel movement and sensation of incomplete defecation were positively correlated with the depth of tumor infiltration (r=0.308, P=0.012;r=0.290, P=0.018;r=0.305, P=0.013).The rec-toanal inhibitory reflex was preserved in all the patients.The volume of constant desire to defecate and the maxi-mum tolerated volume were both lower than the normal references, and both negatively correlated with the depth of tumor infiltration (r=-0.333, P=0.007; r=-0.323, P=0.009).Compared with the mid group, the low group had a higher percentage of patients with difficulties to defecate (27.2%vs.6.8%, P=0.031) , and a significantly lower mean anal resting pressure [ 87.20 ( 49.80 ) mm Hg vs.108.25 ( 41.80 ) mm Hg, P=0.017].Conclusions Mid and low rectal cancer patients manifest with various bowel symptoms with no speci-ficity, except for hematochezia.Patients with mid and low rectal cancer have obviously impaired rectal sensory function.Their anorectal sensory and dynamic functions are influenced by the depth of tumor infiltration and dis-tance from the distal margin of tumor to anal margin.

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*