Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism / 中华内科杂志

To investigate the clinical and genetic characteristics of patients with idiopathic hypogonadotropic hypogonadism (IHH), the clinical data of 23 patients with IHH were retrospectively analyzed. Gene analyses were accomplished with whole-exome sequencing (WES) and Sanger sequencing. Functional prediction of mutation sites was conducted using two bioinformatics platforms, SIFT and Polyphen. Among the 23 patients with IHH, 9 patients carried prokinin 2 (PROKR2) gene mutations including 4 missense mutations (p.W178S, p.Y113H, p.A103V, p.R164Q), and 1 frameshift mutation (p.D42delinsDED), the remaining 14 cases were found negative in gene sequencing. Functional prediction showed that the above mutations may affect protein function suggestive of a pathogenic role of PROKR2 mutation in the patients. There were no significant differences in the levels of follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol between the IHH patients with PROKR2 gene mutation and those without. PROKR2 gene mutation might associated with IHH, and the mutations reported in the present study could enrich the pathogenic spectrum of genes.

Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor / 中华内科杂志

The 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare disease. The clinical characteristics and gene mutation of 2 late-diagnosed 17-OHD patients with testicular tumor admitted to our hospital from March 2018 to February 2019 were analyzed retrospectively. The two 17-OHD patients were female (46, XY). Laparoscopic abdominal exploration found undeveloped testicles in grey-yellow or grey-red in the groin and iliac fossa. The testicles were removed and showed malignancy in pathology study. Sequencing of the CYP17A1 gene identified c.1247G>A/c.1427T>C and c.985_987delTACinsAA/c.1306G>A complex heterozygous mutations. Taking together, the possibility of 17-OHD should be considered in patients with hypertension, hypokalemia, adrenal adenomatoid hyperplasia together with 46, XY gonadal dysplasia, so as to make early diagnosis and treatment, and avoid dysplastic testicular turning to malignancy.

Investigation and Analysis of Off-label Use of Omeprazole in Outpatient Department of a Hospital / 中国药房

OBJECTIVE:To investigate the omeprazole off-label use and provide reference for rational drug use in clinic. METHODS:In retrospective survey,1838 omeprazole prescriptions were selected from outpatient department during Jun. 2014 to May 2017 by random number table. According to the latest drug instruction,whether the off-label use or not was determined. Off-label use was determined by reviewing domestic and foreign guidelines,literatures and Micromedex database. RESULTS:Among 1838 pre-scriptions,there were 1750 prescriptions of off-label drug use (95.21％),involving 13 items and 3 types of off-label drug use. Main type of off-label drug use was over-indication medication,involving 1747 prescriptions (96.47％). There was no statistical significance in the incidence of off-label drug use between digestive department and non-digestive department or among physicians at different levels(P>0.05). Among 13 items of off-label drug use,7 items were supported by evidence-based medicine evidence of domestic and foreign guideline,expert consensus/suggestion or literature reports,etc.;among which 1 item of off-label drug use were included in Micromedex grading system and other 6 items had no evidence-based medicine evidence. CONCLUSIONS:The phenomenon of omeprazole off-label use is widespread in outpatient department of the hospital,and some off-label drug use are sup-ported by evidences. There are differences in the quality of those evidences. It is suggested to standardize the off-label drug use to avoid legal risks and guarantee the safety of drug use for patients.