Twenty clinical symptoms and four radiological signs of different joints in patients with Kashin-Beck disease (KBD) were studied in 2560 subjects from endemic and non-endemic areas of the Shaanxi Province in China. It is suggested to classify the symptoms into five groups representing different manifestations of the disease. The association of some of the symptoms appears to provide significant criteria for use in the diagnosis of KBD.

Concentrations of selenium (Se), boron (B), and germanium (Ge) were determined in scalp hair of children with Kashin-Beck disease (KBD), in healthy children in KBD-disease endemic areas, and in healthy children in non-KBD areas. Mean Se, B, and Ge concentrations were low in children with KBD; in hair of healthy children in KBD areas, Se levels were normal but B and Ge levels were lower than in KBD-free areas. The hair levels of B and Ge were unaffected by selenium supplementation. It is suggested that B and Ge deficiency may be contributing factors in the etiology of KBD.

目的 分析大骨节病患者、病区内对照人群和非病区外对照人群12号染色体上7个短串联重复序列（STR）位点的多态性。方法 采用荧光标记基因扫描方法，对12号染色体上D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682位点在陕西省永寿县、榆林地区大骨节病区患者和病区内对照人群及咸阳地区非病区外对照人群中的多态性进行分析，计算相应人群中7个位点的基因频率、基因型频率，并对各组间基因频率进行x2检验。结果 D12S1718、D12S1675、D12S358、D12S367、D12S1638、D12S1646和D12S1682位点在大骨节病患者中分别检出4、7、7、8、5、5和7个等位基因，5、12、13、11、10、9和13个基因型；在病区内对照人群中分别检出4、9、7、6、6、6和8个等位基因，5、10、12、14、12、9和13个基因型；在非病区外对照人群中分别检出7、9、7、7、5、8和11个等位基因，9、16、17、16、12、15和20个基因型；各组间基因频率进行比较。在D12S367位点和D12S1638位点，患者与病区内对照（D12s367：P=0.034；D12S1638：P=0.041）及非病区外对照间（D12s367：P=0.029；D12S1638：P=0.028）均有显著性差异；在D12S1646位点，患者与病区内对照间无差异（P=0.446），但病区人群与非病区外对照间有差异（患者一非病区外对照：P=0.036；病区内对照。非病区外对照：P=0.039）。结论 大骨节病患者12号染色体的7个STR位点中D12S367和D12S1638等位基因分布显著不同于病区与非病区正常人。

Objective. Kashin-Beck disease (KBD) is a chronic, endemic osteochondropathy principally occurring in children. We investigated apoptotic chondrocyte death and the expression of Bcl-2, Bax, Fas, and inducible nitric oxide synthase (iNOS) in articular cartilage from patients with KBD in order to determine the pathogenesis of chondronecrosis in KBD. Methods. Samples of articular cartilage were divided into 2 groups: control children (15 samples from 15 cases), and children with KBD (15 samples from 15 cases). KBD patients were diagnosed according to "Pathological Criteria to Diagnose KBD in China." Chondrocyte apoptosis was detected by TUNEL staining, and Bcl-2, Bax, Fas, and iNOS-positive articular chondrocytes were stained by immunohistochemistry. Articular cartilage was classified in 3 zones, and positive findings were counted by light microscopy for cytoplasmic staining by polyclonal antibodies of Bcl-2, Bax, Fas, and iNOS and apoptotic chondrocytes by TUNEL. Results. The percentage of positive apoptotic chondrocytes stained by TUNEL in the middle zone of articular cartilage from the KBD patient group (33.60% +/- 2.71%) was higher than that of controls (1.33% +/- 0.41%; p < 0.01). The percentages of chondrocytes staining for Bcl-2, Bax, Fas, and iNOS in KBD patients were significantly higher than in controls (p<0.01); the remarkable difference in Bcl-2, Bax, Fas, and iNOS expression among the upper, middle, and deep cartilage zones was also seen in KBD articular cartilage (p<0.01); and staining for Bcl-2, Bax, Fas, and iNOS in KBD patients was prominent in the upper zone (41.93% +/-12.26%, 45.60% +/-15.78%, 53.60% +/- 16.49%, 45.47% +/- 14.02%, respectively) and the middle zone (14.93% +/- 3.50%, 13.87% +/- 4.32%, 23.27% +/- 4.83%, 21.67% +/-6.82%) of articular cartilage. Conclusion. The apoptotic chondrocytes and Bcl-2, Bax, Fas, and iNOS-positive chondrocytes were significantly more numerous in patients with KBD than in controls.