Objective To investigate the mutations of pedocyte molecules in patients with late onset familial focal segmental glomerular sclerosis (FSGS). Methods Thirty-one pedigrees of late onset familial FSGS in Department of Nephrology, Shanghai Ruijin Hospital from Sep 1997 to Oct 2007 were enrolled in this study. The diagnosis standard of familial FSGS was as follows:(1) the age of presentation was more than 12 years old. (2) in one pedigree, two or more individuals were proven as FSGS by renal biopsy, or at least one was proven to be FSGS by renal biopsy, the others presented renal insufficiency or pmteinuria without precise causes. One hundred unrelated healthy people were screened as control group. Genomic DNA extracted from peripheral blood cells were amplified by PCR and then sequenced for mutations of NPHS2, ACTN4 and TRPC6. Results A novel missense heterozygotic mutation L316P of ACTN4 was identified inone pedigree. The mean onset age of the affected members of this pedigree was (38.7±7.4) years old and their kidney injury progress was slow. Proteinuria of the proband's brother was not improved by immunosuppressor. All 3 affected members of this family had such heterozygotic mutation. A novel missense heterozygotic mutation Q889K of TRPC6 was found in another pedigree. The mean onset age of the affected members in this pedigree was (38.0±4.2) years old. Three members presenting renal disease in this family all had such heterozygotic mutation but with different clinical manifestations. A quiescent mutation G467G of TRPC6 was also identified. Above variants were not found in healthy controls. No NPHS2 mutation was found to cause familial FSGS in these pedigrees. Conclusions A novel mutation L316P of ACTN4 and a new mutation Q889K of TRPC6 are identified in Chinese patients of late onset familial FSGS. No NPHS2 mutation is found to induce FSGS in these pedigrees.

OBJECTIVETo understand the current status and risk factors of "subhealth" in college and university staff in Guangdong province.

METHODSEight thousand four hundred and seventeen staff in 19 colleges and universities in Guangdong were investigated through a self-developed questionnaire, and statistically analyzed using chi(2) test, chi(2)(strand) test and odd ratio. Judgement was based on the criteria on "subhealth" through Delphi method.

RESULTSOverall incidence of "subhealth" was 69.18% in 8,417 staff members, and the highest was in the age group of 30 - 40 year olds (totally 79.17%). The prevalence of severe "subhealth" in females was significantly higher than that of males (chi(2) = 14.19, P < 0.01). The main risk factors of "subhealth" were occupational stress, psychological factors, bad habits and behaviors. 44.21% of the 8,417 staff were aware of the terminology "subhealth", and 36.84% thought themselves under "subhealthy" condition.

CONCLUSIONThe health condition of college and university staff in Guangdong was not satisfactory, thus it was essential to carry out active measures of prevention and intervention among this population.

Adult ; Aged ; Female ; Health Status ; Humans ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Universities