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.

Independent and joint effect of brachial-ankle pulse wave velocity and body mass index level on incident diabetes with hypertension / 中华内分泌代谢杂志

Objective To investigate whether brachial-ankle pulse wave velocity(baPWV),independently and jointly with the level of body mass index(BMI),affect the risk of incident diabetes with hypertension. Methods The effects of baPWV and BMI level on incident diabetes with hypertension were evaluated using Kaplan-Meier curves (log-rank test) and multi logistical regression models after adjustment for various confounding factors. Results A total of 2 222 participants were recruited in this study. Higher baPWV (Q4) was associated with a greater risk of incident diabetes with hypertension simultaneously compared with baPWV in the lower quartiles(Q1-Q3),with HR 4.16(95% CI 2.14,8.09)in the crude model,2.52(95% CI 1.10,5.78) in modelI,and 2.45(95% CI 1.05, 5.70)in modelⅡ.The highest risk of diabetes with hypertension simultaneously was in the group with high baPWV and BMI≥25 kg/m2,with HR 11.50(95% CI 4.5,29.9)in the crude model,4.20(95% CI 1.4,13.1)in modelI,and 4.30(95% CI 1.4,13.3) in modelⅡ. Conclusions The joint effect of baPWV and BMI level on incident diabetes with hypertension simultaneously is a better predictor than their independent effect. The risk of incident diabetes with hypertension markedly increases in the subjects with BMI≥25 kg/m2and higher baPWV.