[Analysis of a family with 11ß-hydroxylase deficiency due to a mutation in the CYP11B1 gene].

This study reports a family of patients with 11ß-hydroxylase deficiency (11ß-OHD) caused by a novel mutation in the CYP11B1 gene, and analyzes its clinical and genetic characteristics. The clinical data of a patient with intractable hypertension at Air Force Medical Center on May 16, 2014 were retrospectively analyzed. The patient was clinically diagnosed with congenital adrenal cortical hyperplasia. The clinical data of the patient were further collected and the peripheral blood samples of the patient, his parents and his sister were collected for CYP11B1(NM_000497) gene sequencing, suggesting that the patient had compound heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9 and exon 5:c.905_907 delATGinsTT, p.Asp302Valfs*23, both of which were pathogenic variants. The patient's father and sister carried heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9, and the mother carried heterozygous mutations in exon 5:c.905_907delATGinsTT, p.Asp302Valfs*23. This study is the first to report a new compound heterozygous mutation in exon 1:c.199delG and exon 5 c.905_907 delATGinsTT of CYP11B1 gene, enriching the database of 11ß-OHD mutations and providing information to further understand the genetic mechanism of the disease.

[Relationship between frailty status and risk of death in the elderly based on frailty index analysis].

Objective: To analyze the relationship between frailty status and the risk of death in the elderly based on the frailty index (FI). Methods: Data from a prospective cohort study conducted between 2005 and 2015 in elderly people of an urban community in Beijing were analyzed. The variables related to health and frailty status based on the 2005 baseline survey and death as outcome variables collected in 2015 were used. A FI model was used to evaluate the correlation between FI and mortality in the elderly people in different age groups was analyzed. Cox regression was applied to evaluate the influence of FI on the risk of death, and Kaplan-Meier curves was used to show the survival rate of different frailty levels in the elderly adults. Results: Of the 1 301 elderly people included in the analysis, 403 died during 2005-2015, with the 10-year mortality rate of 31.0%(403/1 301). The mortality rate of the elderly increased with the increase of FI, but, with the increase of FI value, the rate of mortality increased slowly. The limit value of FI causing death was around 0.70, indicating any new health problem might cause death at this value. Cox regression analysis showed that higher FI was associated with higher risk for death (HR=1.143, 95%CI: 1.034-1.248, P=0.000), and FI was more significantly associated with death than age (HR=1.143 vs. HR=1.048, t=5.827, P=0.000). With the increase of age, the effect of frailty on the risk of death decreased (HR=1.179 to HR=1.120). Kaplan-Meier curves showed that the survival rate of the elderly in all age groups decreased with the increase of frailty (Log-rank=317.812, 354.203, 247.258, all P=0.000). The survival time between different frailty levels in the elderly were significantly different, except for the elderly adults aged ≥80 years with severe frailty level (0.4≤FI<0.5, FI≥0.5, P=0.368). Conclusions: Compared with other evaluation tools of frailty, FI model can better reflect the frailty status of the elderly in communities in Beijing and has a high sensitivity in predicting adverse outcomes such as mortality. In the intervention of frailty in the elderly, focusing on relatively young elderly might be more effective in reducing the adverse outcomes caused by frailty.

[Relationship between fall and frailty index in elderly adults of urban community in Beijing].

Objective: To evaluate the frailty status and understand the relationship between the incidence of fall and frailty status in the elderly in Beijing. Methods: A cross-sectional study was conducted in old people aged ≥60 years in Longtan community of Dongcheng district in Beijing from November 2015 to January 2016. The information about any fall during the past year and frailty status of the elderly were collected with a standardized structured questionnaire in face-to-face interviews. The frailty status of elderly people was assessed with frailty index (FI) method. Logistic regression analysis was used to explore the relationship between fall and frailty status among the elderly. Results: Among 1 557 old people surveyed, the incidence of fall was 17.8% (277/1 557) during the past year. The incidence of fall in women (21.0%, 192/277) was statistically higher than that in men (13.3%, 85/277) (χ(2)=15.288, P=0.000). The median (quartile) value of FI of the elderly surveyed was 0.09 (0.08); and women had a higher FI median value than men [0.10 (0.08) versus 0.08 (0.07)](Z=5.376, P=0.000). The median FI value (quartile range) of 277 old people with history of fall in previous year was 0.12 (0.11), which was higher than the median FI value of 0.08 (0.07) of 1 280 old people without fall history (Z=7.501, P=0.000). Logistic regression analysis showed that higher FI value was associated with more risks for fall; and FI value showed the greatest impact on the incidence and frequency of fall (OR=1.093, 2.234) compared with other related factors of fall, such as age and gender. Conclusion: Frailty status has a greater impact on both incidence and frequency of fall compared with other factors in elderly people in Beijing; more attention should be paid to weak and old adults in the prevention of fall.