OBJECTIVETo identify the mutation of the autoimmune regulator gene (AIRE) in a Chinese family with autoimmune polyendocrinopathy syndrome type I (APS-I).

METHODSThe AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutations and bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein.

RESULTSA compound heterozygous mutation of A19T/R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6.

CONCLUSIONThis is the first report about AIRE mutations in Chinese APS-I kindred. The A19T mutation identified in this study has not been reported in the human gene mutation database (HGMD); the R257X has not been reported in Asians.

Adolescent ; Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Exons ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Polyendocrinopathies, Autoimmune ; genetics ; Sequence Alignment ; Transcription Factors ; chemistry ; genetics

OBJECTIVETo understand the situation and efficacy of community-based management programs on hypertension and type 2 diabetes mellitus patients in primary health service centers.

METHODSIn eight provinces being selected, a stratified multistage random sampling method was used to survey 5 116 cases of hypertension patients and 3 586 cases of type 2 diabetes mellitus patients aged over 35 years who had been under the management program for over 1 year. Face-to-face questionnaire interview and physical and biochemical examination were applied to collect related information, blood pressure and situation of glucose control.

RESULTSThe rates of management on hypertension patients and type 2 diabetes mellitus patients were 23.6% (urban:17.1%, rural:28.1%, χ² = 27 195.33, P < 0.001)and 19.1% (urban:14.1%, rural:23.8%, χ² = 7 423.67, P < 0.001)while the standardized management rates were 61.1% (urban:63.3%, rural:58.6%, χ² = 11.82, P < 0.001)and 59.0% (urban:61.5%, rural:55.6%, χ² = 12.66, P < 0.001), respectively. Rate on blood pressure control among hypertension patients and the rate on fasting glucose control on type 2 diabetes mellitus patients were 50.3% (urban:62.0%, rural:36.6%, χ² = 329.31, P < 0.001)and 53.9% (urban:60.8%, rural:44.7%, χ² = 90.53, P < 0.001), respectively. Satisfaction rates for the management service of the hypertension patients and type 2 diabetes mellitus patients were 83.0% (urban:84.7% , rural: 80.7% , χ² = 13.42, P < 0.001) and 84.5% (urban:88.0% , rural:79.5% , χ² = 43.90, P < 0.001), respectively.

CONCLUSIONEfficiency was achieved to some extent in managing hypertension and type 2 diabetes mellitus patients in primary health service centers. Further improvement was expected on rates regarding management, standardized management and control on both blood pressure and glucose.

Adult ; Aged ; Aged, 80 and over ; China ; Diabetes Mellitus, Type 2 ; Disease Management ; Female ; Humans ; Hypertension ; Male ; Middle Aged ; Patient Satisfaction