Objective To investigate the association of estrogen receptor-? (ER-?) and vitamin D receptor (VDR) gene polymorphisms with peak bone mass in Shanghai women. Methods The ER-? PvuⅡ and XbaⅠ genotypes and VDR ApaⅠ genotypes were determined by PCR-RFLP in 515 unrelated healthy women aged 19-40 years of Han nationality in Shanghai. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry. Results Frequencies of ER-? PvuⅡ genotype PP, Pp and pp were 13.2%, 49.3% and 37.5% respectively. Frequencies of ER-? XbaⅠ genotype XX, Xx and xx were 4.7%, 40.4% and 54.9% respectively. Frequencies of VDR ApaⅠ genotype AA, Aa and aa were 5.8%, 41.9% and 52.3% respectively. Hardy-Weinberg equilibrium was evident for both ER-? and VDR gene polymorphisms. No association was found between ER-? PvuⅡ and XbaⅠ genotypes and BMD of various sites in women. Only a significant association was found between VDR ApaⅠ genotype and BMD at L 1-4(P

BACKGROUND: Peak bone mass and standard deviation (SD) in different regions are varied, which have great influence on diagnosis of osteoporosis. To establish a complete database can provide accurate evidence for osteoporosis diagnosis. OBJECTIVE: To investigate the influence of bone mineral densities (BMD) and their SD of young people on the detective rate of osteoporosis in general population. DESIGN, TIME AND SETTING: Investigation analysis was performed at Beijing, Shanghai, Guangzhou, Nanjing, Jiaxing and Chengdu between January 1997 and December 1999. PARTICIPANTS: 11418 subjects from related 6 centers of BMD reference database in China were investigated and analyzed using prospective and retrospective methods, including 3 666 males, and 7 752 females aged 20-90 years. Of them, 2385 were from Beijing, 1178 from Guangzhou, 1404 from Shanghai, 2938 from Nanjing, 1425 from Chengdu, and 2088 from Jiaxing. The subjects were selected from community investigation, physical examination volunteers. METHODS: BMD of the lumbar spine (L2-4) and the hip in 11, 418 subjects from the related 6 centers in China was measured with GE-Lunar dual energy X-ray absorptiometry (DXA) and the BMD reference database was established. The accuracy rate of the inner machine was 0.3%-0.7%, and the accuracy of different machines averaged 1.1%. MAIN OUTCOME MEASURES: Lumbar BMD distribution of different age groups from 6 centers; influence of young people's BMD and its SD on detective rate of osteoporosis. RESULTS: Different BMD and SD were found in the individual subject from 6 centers, and the maximum differences were 0.098 g/cm2 and 0.027 g/cm2. With mean BMD and SD of the individuals from 6 centers as references, different T-scores and the detective rates of osteoporosis derived from the T-scores were found in the same group. The detective rate increased by 1.6% when BMD of the young people increased by 0.01 g/cm2 (positive correlation), but the detective rate decreased by 4% when SD increased by 0.01g/cm2 (negative correlation). CONCLUSION: Changes in BMD and SD of the young people can influence the detective rate of osteoporosis. To achieve comparability for the detective rate of osteoporosis in different centers, the specific reference database should be established for the same race, the same area, and the same bone densitometry machine. The T-score should be determined with the normal BMD and SD of the young, people as the reference database.

Objective:To summarize the clinical manifestations and diagnostic methods of adult neuronal intranuclear inclusion disease (NIID), improve understanding of the disease, and avoid misdiagnosis.Methods:Clinical data of 8 adult NIID patients in the Hunan region were collected, and their clinical manifestations, cranial imaging, genetic testing, skin biopsy, and other characteristics were analyzed.Results:Among the 8 patients, 4 were males and 4 were females; The initial symptoms of 2 patients were dizziness, 2 were mental abnormalities, 2 were stroke like attacks, 1 was urinary incontinence, and 1 was limb tremor; Six patients experienced slow progression of the disease, while two patients experienced sudden progression after several years of slow progression; The GGC repeat amplification mutation in the 5′untranslated region of the NOTCH2NLC gene, as well as the lace like sign in the brain cortex medullary junction on diffusion-weighted imaging (DWI) and the presence of eosinophilic transparent inclusion bodies in the nucleus on skin biopsy, were helpful in diagnosing NIID.Conclusions:The clinical manifestations of NIID are highly heterogeneous, and some patients have rare initial clinical symptoms, which are prone to misdiagnosis and missed diagnosis. It is necessary to combine imaging, genetic testing, and skin biopsy to confirm the diagnosis; Some patients may experience sudden progression and poor prognosis after years of slow progression.