1.Investigation of prognostic effect of red cell distribution width on chronic thromboembolic pulmonary hypertension in patients with acute pulmonary embolism
Wenwen XU ; Jianguo CUI ; Hui MA ; Baobin MI ; Xiaohong YAN ; Jie QI ; Qingtan ZHANG
Chinese Journal of Geriatrics 2016;35(6):581-586
Objective To investigate the clinical characteristics of acute pulmonary embolism in the elderly and its differences between the elderly and non-elderly patients,and explore the predictive effect of red blood cell distribution width(RDW)on chronic thromboembolic pulmonary hypertension (CTEPH)in patients with acute pulmonary embolism.Methods A total of 129 consecutive patients with acute pulmonary embolism admitted into Affiliated Hospital of Binzhou Medical College were selected from Jan.2009 to Dec.2013.Clinical data including the basic data,blood routine test,blood gas analysis,Doppler echocardiography during admission were retrospectively analyzed.All the patients were followed-up.Ancillary findings and changes of the disease were recorded in detail during the follow-up period.SPSS 19.0 was used to analyze the results.Results The incidences of CEPPH and venous thromboembolism(VTE)in APE patients were higher in the elderly than in non-elderly.The mean RDW and pulmonary arterial systolic pressure on admission in APE patients were higher in the elderly than in non-elderly [(14.22±2.11)% vs.(13.48± 1.69)%,P=0.033,for mean RDW] and [(54.82± 21.77)mmHg vs.(42.20 ± 19.36) mmHg,P=0.010 for pulmonary arterial systolic pressure].The mean RDW was higher in CTEPH patients than in patients without CTEPH [(16.79 ± 3.08) % vs.(13.68± 1.68)%,P=0.016].Multivariate Logistic analyses showed that the increased RDW level was an independent risk factors for CTEPH in APE patients(OR=1.535,95% CI:1.094-2.155,P=0.013).The area under receiver operating characteristics curve(AUC)of RDW level for predicting CTEPH in APE patients was 0.856(95% CI:0.706-0.987,P<0.001),the corresponding cut-off point was 14.85%,and the sensitivity and specificity were 88.9% and 87.5% respectively.Conclusions The increased RDW level could predict the risk of CTEPH to a certain extent in APE patients.
2.Hutchinson-Gilford progeria syndrome in two brothers and literature review
Fei CHENG ; Mei CHEN ; Jinzhun WU ; Junmin ZHOU ; Qingtan YAN
Journal of Clinical Pediatrics 2017;35(12):898-901
Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc.In both of them,the compound heterozygous mutation of NBAS gene(c.4081C>T,c.5741C>T)were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy.Conclusions It is reported two cases of HGPS caused by NBAS gene mutation.It is rare that two brothers have HGPS.