Halaba Zenon, Pyrkosz Antoni, Adamczyk Piotr, Drozdzowska Bogna, Pluskiewicz Wojciech
Outpatient Medical Care, Zabrze, Poland.
Ultrasound Med Biol. 2006 Mar;32(3):409-13. doi: 10.1016/j.ultrasmedbio.2005.11.009.
Disturbances in skeletal status in subjects with genetic disorder may increase their fracture risk. The aim of the study was longitudinal observation of phalangeal speed of sound changes across the bone over a period of 2 y in 24 patients (14 boys and 10 girls, mean age 9.63 +/- 1.8 y.) and 24 age-matched healthy controls (14 boys and 10 girls, mean age 9.65 +/- 1.71 y.). Weight and height did not differ between patients and controls at baseline and follow-up. Patients with the following disorders were evaluated: 7 with Down syndrome, 6 nonspecific mental retardations of unknown etiology, 5 Martin-Bell syndrome and 6 with other diseases. In patients and controls, no factors potentially influencing bone metabolism (except for genetic disorder) were present. Bone status was assessed by quantitative ultrasound at hand phalanges using DBM Sonic 1200 (IGEA, Carpi, Italy), which measures amplitude-dependent speed of sound (Ad-SoS [m/s]). At baseline, Ad-SoS and Z-score were significantly lower in patients than in controls (1892 +/- 51 m/s versus 1936 +/- 43 m/s, p < 0.01 and -1.47 +/- 1.43 versus -0.14 +/- 1.04, p < 0.001, respectively. In follow-up, Ad-SoS and Z-score increased significantly in patients (1892 +/- 51 m/s to 1934 +/- 48 m/s, p < 0.0001 and -1.47 +/- 1.43 to -0.76 +/- 1.00, p < 0.01, respectively) and in controls (1936 +/- 43 m/s to 1976 +/- 60 m/s and -0.14 +/- 1.04 to 0.31 +/- 1.08, p < 0.05, respectively). Follow-up Ad-SoS and Z-Score were significantly lower in patients (p < 0.01). Longitudinal changes in Ad-SoS, Z-score weight did not differ between patients and control, and height increased more in controls (13.2 +/- 2.8 cm versus 11.4 +/- 5.9 cm, p < 0.05)+). In patients, Ad-SoS increased by 42 m/s (2.22%), and in controls increased by 40 m/s (2.07%). Difference in Ad-SoS between patients and controls was 44 m/s at baseline and 42 m/s at follow-up. Using the value of the least significant change (LSC = 20.5 m/s), in 16 patients (67%) and in 18 controls (75%) Ad-SoS showed an increase greater than the LSC, in one control (4%) a decrease greater than the LSC and in rest of subjects studied remained unchanged (33% patients and 19% controls) over a period of observation. In conclusion, despite comparable improvement in measured ultrasound parameter in patients and controls observed over a study duration, the difference between them remained stable.
患有遗传疾病的受试者骨骼状态紊乱可能会增加其骨折风险。本研究的目的是对24例患者（14名男孩和10名女孩，平均年龄9.63±1.8岁）和24名年龄匹配的健康对照者（14名男孩和10名女孩，平均年龄9.65±1.71岁）的指骨声速在2年时间内的变化进行纵向观察。患者和对照者在基线和随访时的体重和身高无差异。对患有以下疾病的患者进行了评估：7例唐氏综合征、6例病因不明的非特异性智力发育迟缓、5例马丁 - 贝尔综合征和6例其他疾病。在患者和对照者中，不存在可能影响骨代谢的因素（遗传疾病除外）。使用DBM Sonic 1200（意大利卡尔皮的IGEA公司）对手指骨进行定量超声检查来评估骨状态，该仪器测量与振幅相关的声速（Ad-SoS [米/秒]）。在基线时，患者的Ad-SoS和Z评分显著低于对照者（分别为1892±51米/秒对1936±43米/秒，p < 0.01；以及-1.47±1.43对-0.14±1.04，p < 0.001）。在随访中，患者的Ad-SoS和Z评分显著增加（分别从1892±51米/秒增至1934±48米/秒，p < 0.0001；以及从-1.47±1.43增至-0.76±1.00，p < 0.01），对照者也显著增加（分别从1936±43米/秒增至1976±60米/秒以及从-0.14±1.04增至0.31±1.08，p < 0.05）。随访时患者的Ad-SoS和Z评分显著更低（p < 0.01）。患者和对照者在Ad-SoS、Z评分、体重方面的纵向变化无差异，对照者的身高增加更多（13.2±2.8厘米对11.4±5.9厘米，p < 0.05）。患者的Ad-SoS增加了42米/秒（2.22%），对照者增加了40米/秒（2.07%）。患者和对照者之间的Ad-SoS差异在基线时为44米/秒，随访时为42米/秒。使用最小显著变化值（LSC = 20.5米/秒），在16例患者（67%）和18例对照者（75%）中，Ad-SoS的增加大于LSC，1例对照者（4%）的减少大于LSC，在观察期间其余研究对象保持不变（33%的患者和19%的对照者）。总之，尽管在研究期间观察到患者和对照者测量的超声参数有相当程度的改善，但两者之间的差异保持稳定。
