[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism].

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].

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.

[Efficacy and safety of insulin degludec for diabetes mellitus: a meta-analysis].

OBJECTIVE: To systematically evaluate the efficacy and safety of insulin degludec for diabetes mellitus (DM). METHODS: Databases including Cochrane Library, PubMed, Embase, Wanfang Data, China Biology Medicine disc (CBM) and China National Knowledge Infrastructure (CNKI) were searched electronically for randomized controlled trials (RCTs) meeting including criteria and the methodological quality of studies was assessed. Then meta-analysis was performed using RevMan 5.0 software. RESULTS: Twelve RCTs with 6 527 patients were included into our study: 4 358 patients in degludec group and 2 169 patients in control group. Compared with insulin glargine, insulin degludec was more effective in reducing fasting blood glucose (MD=-0.40, 95%CI: -0.65--0.16, P=0.001), but less effective in improving levels of glycated hemoglobin (MD=0.13, 95%CI: 0.08-0.17, P<0.001). There was no significant difference in the incidence rate of adverse events in two groups (OR=0.98, 95%CI: 0.87-1.10, P=0.700), but incidence rate of nocturnal hypoglycaemia was significantly lower in insulin degludec group (OR=0.82, 95%CI: 0.72-0.94, P=0.004). CONCLUSIONS: Insulin degludec is non-inferior to other basal insulin in reducing levels of blood glucose, but insulin degludec can obviously reduce the incidence rate of nocturnal hypoglycaemia, so it is safer than other basal insulin. The long-term efficacy and safety should be further studied .

Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder.

We examined the correlation between PNPLA7 gene polymorphisms at the rs61754920 and rs11137410 loci and menstrual disorder in women of reproductive age in the Central Plain. Genomic DNA was extracted from peripheral blood; polymerase chain reaction-ligase detection reaction and SNaPshot genotyping were used to detect polymorphisms in the rs61754920 and rs11137410 gene loci, respectively. The results for the 2 loci in individuals of different blood types were statistically analyzed. The proportion of the AA homozygote at the rs61754920 locus in the PNPLA7 gene was the lowest, while the proportion of the CC homozygote at the rs11137410 locus in the PNPLA7 gene was the highest. There were no statistical differences in the frequency distribution of genotypes and alleles at the 2 loci between control and test groups. The frequency of the TT genotype at the rs11137410 locus in women with type O blood was significantly lower in the test group than in the control group. Frequencies of the C and T alleles were significantly different between the 2 groups. There may be an association between the PNPLA7 gene and type O blood or a combined effect of the 2 genes.

[The behaviour of rabbit ICM in culture system in vitro].

The behaviour of ICMs isolated from early blastocysts of rabbit by microsurgery and incubated in cultural system in vitro, are varied according to the growing state of ICM. The band type growing extends from the proximal to the distal end, while the differentiation of cells in this kind initiates from the distal toward the proximal and gradually. The band type ICM possesses obvious polarity. The differentiation of different kind of cells appear one after another in order and the arrangement of differentiated germinal layer are clearcut. Therefore, the band type ICM is a good model for the investigation of differentiation cell and cell lineage. Whereas the ball type of growing ICM possesses no polarity. The cell in this type of ICM appears to differentiate from the outer surface of the ball toward the center gradually. The cellular differentiation starts later and the rate of proliferation of differentiated cells are lower than those of the band type ICM. After 7 days of incubation in vitro most of the ICM remain undifferentiation. The ball type ICM is a good model for the isolation of the embryonic stem cell line. There are two steps that the extraembryonic endoderm of rabbit are differentiated from ICM. The first kind of extraembryonic endoderm formed from ICM after 3 days of incubation in vitro. It is the parietal extraembryonic endoderm which migrate so far from the primitive ectoderm. The second kind of extraembryonic endoderm differentiates from ICM after 4 days of incubation in vitro. It is the visceral endoderm, most of which followed the migration of the first endoderm and the rest of them invade into the trophectoderm near the primitive ectoderm.

Somite pattern regulation in the avian segmental plate mesoderm.

Previous experimental evidence suggested that the avian segmental pattern is already specified in the apparently unsegmented paraxial (segmental plate) mesoderm, but is susceptible to modification and reconstitution. We explored capacities of embryos to alter the specified pattern and restore it after disruption. In control experiments, right segmental plates of chicken or Japanese quail embryos were removed after about 48 hours of incubation and immediately replaced. Hensen's node and the primitive streak were removed to halt further segmental plate formation and the embryos were cultured for about 18 hours more. Somite numbers on the operated and unoperated sides were nearly identical (r = 0.904, n = 31, P < 0.001); no species differences were noted. Right segmental plates of chicken hosts were then replaced with right segmental plates from quail donors. The numbers of somites formed by donors and grafts were not significantly correlated (r = 0.305, n = 30, P < 0.1), but the correlation between the graft and the host's unoperated side was significant (r = 0.666, n = 30, P < 0.001). The host is therefore able to alter the number of somites formed by the graft to one more compatible with the host's pattern. From orthostereoscopic reconstructions, it appeared that the location and size of somites could also be adjusted by the host. Similar results were obtained for tandem grafts of anterior halves of segmental plates and for grafts of minced segmental plates, though in the latter case contact with tissues near the midline was necessary for somite formation.