Search Results

OBJECTIVETo investigate the prevalence of chronic obstructive pulmonary disease (COPD) and its risk factors in population over 40 years old in northern part of Guangdong province.

METHODSUsing uniform scheme, procedures and questionnaire, a cluster-randomized-sampling survey for the population aged over 40 years in a rural area of Shaoguan in the northern part of Guangdong province was performed. Spirometry was performed for every participant, followed by a bronchodilatation test when bronchial obstruction was present.

RESULTSThere were 1468 cases with complete data from 1498 people aged >or= 40 years including 640 males, 828 females with an average age of 54.3 years old. The total prevalence of COPD was 12.0%. The prevalence of COPD in males was significantly higher than that in females (18.3% vs. 7.1%, P < 0.01). Only 80.7% of the patients with COPD presented one or more symptoms as cough, phlegm, or dyspnoea. Underdiagnosis of COPD would be quite serious. Only 26.1% of the cases was previously diagnosed to have chronic bronchitis, emphysema, or COPD. Smoking was an important risk factor to COPD and 78.4% of the patients with COPD were smokers. However, relation of biomass and COPD called for further investigation.

CONCLUSIONPrevalence of COPD was much higher than expected in the northern part of Guangdong while smoking was an most important risk factor of COPD. Lung function test seemed to be of great importance to COPD diagnosis, especially in the earlier period of COPD.

Adult ; China ; epidemiology ; Female ; Humans ; Male ; Mass Screening ; Middle Aged ; Prevalence ; Pulmonary Disease, Chronic Obstructive ; epidemiology ; Risk Factors ; Sex Factors ; Smoking ; adverse effects ; Surveys and Questionnaires

9.Rare thalassemia mutations among southern Chinese population.

Fen LIN ; Liye YANG ; Min LIN ; Xiangbian ZHENG ; Min LU ; Meilan QIU ; Liejun LI ; Longxu XIE

Chinese Journal of Medical Genetics 2017;34(6):792-796

OBJECTIVETo detect rare types of thalassemia mutations among southern Chinese population.

METHODSPeripheral blood samples from 327 patients from various regions of southern China were collected. The patients were suspected as rare-type thalassemia for their inconsistency between hematological phenotypes and results of routine mutation screening. The samples were further analyzed with GAP-PCR and DNA sequencing.

RESULTSOne hundred and eight cases were diagnosed as rare types of thalassemia. Among whom 10 rare α-globin gene mutations including --THAI, HKα, αααanti3.7, αααanti4.2, -α2.8, -α27.6, CD74 GAC>CAC (Hb Q-Thailand), CD30 (-GAG), CD31 AGG>AAG and CD118 (+TCA), and 12 rare β-globin gene mutations including CD37 TGG>TAG, CD39 CAG>TAG/CD39 CAG>TAG, β II-2 (-T), -90(C>T), -31(A>C), -88(C>T), CD7(-A), CD138(+T), CD89-93 (--AGTGAGCTGCACTG), CD54-58 (-TATGGGCAACCCT), Chinese G γ +(A γδβ)0 and Vietnamese HPFH (HPFH-6) were identified. -88(C>T) (HBB: c.-138C>T) and CD39 CAG>TAG (HBB: c.118C>T) were discovered for the first time in Chinese population. CD7(-A) (HBB: c.23delA) and CD138(+T) (HBB: c.416_417insT) were new types of β-globin gene mutations.

CONCLUSIONThe present study have enriched the mutation spectrum of thalassemia in southern China, which has provided necessary information for its diagnosis.