Pedigree analysis of a osteogenesis imperfect and prolactinoma family caused by a newly found gene mutation in COL1A1 / 中华内分泌代谢杂志

Objective To explore the collagen, typeⅠ, α 1 chain ( COL1A1) gene mutation in a family with type 1 osteogenesis imperfect. Methods The medical records and DNA samples of an osteogenesis imperfect patient and her family members were collected, and their DNA sequencing were performed and compared with 50 non-relative healthy control from the same area. Results The proband and her three family members ( father, younger brother, and younger nephew) with clinical features of osteogenesis imperfect as well as prolactinoma were confirmed of COL1A1 gene mutation at the 24th intron with a shear mutation of c. 1669-1 G＞A which was not reported previously. Other family members were genetically normal compared with the normal. Conclusions We found a new COL1A1 gene mutation family and mutation site, but the relationship between osteogenesis imperfect and prolactinoma was unknown.

Comparative Study of the Character of Release in vitro between New MU-AN Ophthalmic Gel and the Old / 中国药师

Objective:To search the release in vitro of new MU-AN ophthalmic gel consist of ganciclovir instead of aciclovir is whether better than the Old. Methods:Using the content of ganciclovir and acyclovir as the index, taking the second oar method ( in Ch. P 2010), drug release in vitro test was investigated. Results:The character of drug release of new MU-AN ophthalmic gel was e-qual to the old, the rate of drug release was similar, The amount of drug release was the same. Both drugs met the requirements of clin-ical medication. The character corneal permeability of new MU-AN ophthalmic gel was better than the old. Gel matrix had no influ-ences on drug release, drug would be bring treatment effect after the way that it was released quickly then was dissolved in tear. Con-clusion:The drug release characteristics consistent with ophthalmic preparation requirements. The character of drug release of new MU-AN ophthalmic gel consist of ganciclovir instead of aciclovir is equal to the old, the time administer drug and interval time is gener-ally scientific, reasonable and feasible, providing the basis for the pharmacodynamics , toxicology and clinical study in the next step.

The diagnosis of paralytic intestinal obstruction caused by antipsychotic agents with X-ray combined with ultrasound / 中国医师进修杂志

Objective To explore the images and diagnostic evaluation of X-ray combined with ultrasound in paralytic intestinal obstruction caused by antipsychotic agents. Methods The data of X-ray and ultrasound of 124 cases of clinically diagnosed paralytic intestinal obstruction caused by antipsychotic agents were analyzed retrospectively, as well as their rates of confirmed diagnosis. All the 124 patients were examined by erect abdominal radiography and fluoroscopy,68 of the 124 patients by ultrasound. Results According to their typical images,the rate of X-ray confirmed diagnosis was 87.9%(109/124) with 15 missed diagnosis and the rate of missed diagnosis was 12.1%( 15/124);the rate of ultrasound confirmed diagnosis was 82.4%(56/68) with 12 missed diagnosis and the rate of missed diagnosis was 17.6%(12/68). There was no significant difference between X-ray and ultrasound (P＞ 0.05 ). Compared with X-ray or ultrasound ,X-ray combined with ultrasound in the diagnosis of paralytic intestinal obstruction could increase the rate of confirmed diagnosis (100.0% ,68/68),and decrease the rate of missed diagnosis (0),the difference was statistically significant (P＜ 0.05 ). Conclusions X-ray examination is the first choice to diagnose paralytic intestinal obstruction caused by antipsychotic agents,but ultrasound has the advantage of finding fluid in abdominal cavity. To reduce missed diagnosis, X-ray should be combined with ultrasound.

Cutpoint and clinical significance of HbA1C for diabetes diagnosis in a cross-sectional study / 中华内分泌代谢杂志

Objective To compare the difference of cutpoint and clinical significance of HbA1C for the diagnosis of abnormal glucose metabolism in two population groups with different ages.Methods According to oral glucose tolerance test(OGTT),the cutpoint and clinical significance of HbA1C for the diagnosis of type 2 diabetes and impaired glucose regulation(IGR)were investigated in the two population groups.Results The mean HbA1C of 1 064 young subjects in an academy and 1 671 aged subjects in a community were 5.31% ±0.41% and 5.79% ±0.71%,respectively.The cutpoints of HbA1C for diagnosis of diabetes were 5.7%(specificity 86.7%,sensitivity 66.7%)and 5.9%(specificity 73.8%,sensitivity 80.1%)in the two population groups,and 5.6% for diagnosis of IGR (specificity 82.8%,sensitivity 55.8%)and 5.7%(specificity 60.9%,sensitivity 64.3%),respectively.87.8%,78.7%,and 38.5% were diagnosed diabetes by current OGTT criteria at HbA1C levels of ≥5.7%,≥5.9%,and≥6.5%,IGR being 61.6%,39.6%,and 4.1%,and normal glucose tolerance being 24.4%,10.0%,and 0.4%.Conclusion The cutpoints of HbA1C for diagnosis of diabetes and IGR are different in populations with different ages and HbA1C levels.As one of diagnostic criteria for diabetes,HbA1C 6.5% with relatively higher specificity and lower sensitivity must be combined with fasting blood glucose,random blood glucose,and OGTT.

The observation on comprehensive therapeutic effect of interventional embolization chemotherapy in advanced cervical cancer / 中国基层医药

Objective To study the comprehensive therapeutic effect of interventional embolization chemotherapy in advanced cervical cancer. Methods 136 patients with advanced cervical cancer were selected as research object,and they were randomly divided into control group(radiotherapy group) 68 cases and observation group(interventional embolization chemotherapy group) 68 cases,then the total effective rate,incidence of adverse reactions,secondary operation rate and serum CA125 ,SCC and CY211 of two groups before and after the treatment were analyzed and compared. Results The total effective rate( 83. 8% vs 66. 2% ) and secondary operation rate(89.7% vs 48.5% )of observation group was higher than that of control group, incidence of adverse reactions (63.2% vs73.5 % ) was lower than that of control group,serum CA125 [(37. 89 ± 16. 78) vs(52. 36 ± 16. 98) U/ml], SCC[(0. 68 ± 0. 42) vs (1.52±0.36)μg/L]and CY211[(4.86 ±2.21)vs(8.45 ±2.85)ng/L]were all lower than those of control group. ( P ＜0.05 or P ＜0.01) , there were significant differences. Conclusion The comprehensive therapeutic effect of interventional embolization chemotherapy in advanced cervical cancer was better,and it was one of effective methods in advanced cervical cancer.