Objective To evaluate the screening effect of osteoporosis self-assessment tool for Asians (OSTA) in middle aged and elderly healthy men in Chengdu.Methods A total of 4042 healthy men aged 40 to 106 years received dual energy X-ray absorptiometry (DXA) assay,and OSTA index evaluation.Measurement sites included lumbar spine (L1-4),left femoral neck,trochanter,Ward's area,total hip and femoral shaft.All persons were classified into highosteoporosis-group (OSTA≤-4),mediumosteoporosis-group (-4 ＜ OSTA≤≤-1),low osteoporosis-group (OSTA＞-1),or the low risk-group (OSTA＞-1) and high risk-group (OSTA≤-1) by OSTA scores.T-scores were compared between different measurement sites detected by DXA.The sensitivity,specificity,Kappa value and the area under receiver operating characteristic (ROC) curve (AUC) of OSTA in screening osteoporosis were evaluated.Results The prevalence of osteopenia and osteoporosis in lumbar spine,proximal femur were gradually increased along with aging.The detection rate of osteoporosis in lumbar spine and proximal femur were 16.2％ and 24.0％ respectively in subjects aged over 80 years.OSTA index in low-risk,medium-risk group,high-risk group were 85.0％,11.0％,4.0％ respectively.The detection rate of osteoporosis in lumbar spine and proximal femur were 2.6％ and 1.6％ in low-risk group,10.4％ and 10.4％ in medium-risk group,and 29.3％ and 30.5％ in high-risk group,respectively.Taking OSTA ≤-1 as the cut-off value,the sensitivity and specificity of OSTA in screening osteoporosis in lumbar spine and femur by T-score＜-1 were 28.1％,28.7 ％,89.0％ and 92.4％ respectively,and by T-score≤-2.5 were 51.6％,63.2％,86.7％ and 86.8％ respectively.The consistency of diagnosis result between T-score and OSTA index according to the three versus two risk levels was 0.153 and 0.197 versus 0.195 and 0.243 Kappa value,respectively.The AUC of OSTA index for lumbar spine and femur by T-score＜-1 and T-score≤-2.5 were 0.689 and 0.823,and for different age groups and different measurement sites were 0.639 and 0.899 (all P＜0.001).Conclusions OSTA index has a certain ability in screening osteoporosis in men aged over 50 years.There are different screening results on osteoporosis among the different age groups.

OBJECTIVE: To explore the genetic basis for a child with multiple malformations. METHODS: A child who had presented at Shanxi Provincial Children's Hospital in February 2021 was selected as the study subject. Clinical data of the patient was collected, and whole exome sequencing (WES) was carried out to screen pathogenic variants associated with the phenotype. Candidate variant was validated by Sanger sequencing of her family members. RESULTS: The child had normal skin, but right ear defect, hemivertebral deformity, ventricular septal defect, arterial duct and patent foramen ovale, and separation of collecting system of the left kidney. Cranial MRI showed irregular enlargement of bilateral ventricles and widening of the distance between the cerebral cortex and temporal meninges. Genetic testing revealed that she has harbored a heterozygous variant of NM_178014.4: c.217A>G (p.Met73Val) in the TUBB gene, which was unreported previously and predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The child was diagnosed with Complex cortical dysplasia with other brain malformations 6 (CDCBM6). CONCLUSION CDCBM is a rare and serious disease with great genetic heterogeneity, and CDCBM6 caused by mutations of the TUBB gene is even rarer. Above finding has enriched the variant and phenotypic spectrum of the TUBB gene, and provided important reference for summarizing the genotype-phenotype correlation of the CDCBM6.
Humans ; Child ; Female ; Abnormalities, Multiple ; Blood Group Antigens ; Family ; Malformations of Cortical Development/genetics* ; Brain ; Mutation