Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Skeletal status in subjects with genetic disorders rarely has been a matter of interest, and the risk for osteoporotic fracture in this population is not known. The aim of this study was to estimate ultrasound values in subjects with genetic disorders. In the study 50 patients (36 boys and 14 girls, mean age 11.8 +/- 2.9 years) and 528 healthy controls matched for age and body size (380 boys and 148 girls, mean age 11.9 +/- 2.5 years) were evaluated. Patients with the following disorders were included: Down syndrome, Martin-Bell syndrome, Marfan-Mass phenotype and others. Bone status was assessed by quantitative ultrasound (QUS) of hand phalanges using DBM Sonic 1200 (IGEA, Carpi, Italy), which measures amplitude-dependent speed of sound (Ad-SoS, m/s). Ad-SoS was significantly lower in patients than in controls (in the whole group 1,915 +/- 69 m/s vs. 1,970 +/- 62.0 m/s, P<0.0000001; in males 1,917 +/- 73 m/s vs. 1,972 +/- 63 m/s, P<0.000001; in females 1,910 +/- 58 m/s vs. 1,963 +/- 58 m/s, P<0.01). Ad-SoS correlated significantly with age and body size (except for Ad-SoS with age in female patients). In all subgroups of patients (except for the subjects with Marfan-Mass syndrome) Ad-SoS values were significantly lower than in controls. In a multiple, stepwise regression analysis of Ad-SoS on age and body size, in the whole group of patients age and height had significant influence on Ad-SoS, and in controls age, height and weight. In conclusion, the study shows significantly lower phalangeal ultrasound values in subjects with different genetic disorders compared to normal healthy persons.
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PMID:Quantitative ultrasound of the hand phalanges in patients with genetic disorders: a pilot case-control study. 1295 34

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.
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PMID:Longitudinal changes in ultrasound measurements: a parallel study in subjects with genetic disorders and healthy controls. 1653 99

The aim of the study was comparison of quantitative ultrasound and densitometric peripheral measurements in subjects with genetic disorders. The study included 52 subjects (35 boys and 17 girls) in mean age 13.1 +/- 4.8 y. Patients with following disorders were evaluated: Down syndrome (n = 21), Martin-Bell syndrome (n = 14) and other (n = 17). There were no additional factors potentially influencing bone metabolism. Bone status was assessed by quantitative ultrasound at the hand phalanges using DBM Sonic 1200 (IGEA, Italy), which measures amplitude-dependent speed of sound (Ad-SoS [m/s]) and bone densitometry at the calcaneus and forearm by the use of PIXI (GE, USA), which measures bone mineral density (BMD, g/cm2). Ad-SoS correlated significantly with forearm and calcaneus BMD in the whole group (r = 0.66, p < 0.000001 and r = 0.51, p < 0.0001, respectively), in females (r = 0.58, p < 0.05 and r = 0.5, p < 0.05) and in males (r = 0.70, p < 0.000001 and r = 0.54, p < 0.001). Calcaneus BMD correlated with wrist BMD in the whole group, in females and males: r = 0.66, p < 0.000001, r = 0.67, p < 0.01 and r = 0.75, p < 0.0001, respectively. These coefficients of correlation were compared and did not reveal significant differences in the whole group and in the gender subgroups. ROC analysis of Ad-SoS values versus calcaneus and forearm BMD showed area under curve 0.89 for forearm BMD and 0.79 for calcaneus BMD (subjects with Ad-SoS T-score below -3.2 were considered as abnormal). Age correlated significantly with Ad-SoS, forearm and calcaneus BMD (r ranged from 0.53 to 0.9, p from 0.05 to 0.000001). In all patients and males, age more strongly influenced Ad-SoS than calcaneus BMD (p < 0.05). Also, body weight and height correlated significantly with Ad-SoS, forearm and calcaneus BMD, except for correlation between forearm BMD and height in female patients (r from 0.58 to 0.84, p < 0.05). Generally, in multiple stepwise regression analysis of age and body size on skeletal parameters, age had positive influence, and body size was a positive or a negative factor. In conclusion, both quantitative ultrasound and peripheral densitometry may be recommended for the assessment of skeletal status in subjects with genetic disorders, although measurements of phalanges seem to be more sensitive for detecting age-related bone changes.
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PMID:Quantitative ultrasound and peripheral bone densitometry in patients with genetic disorders. 1661 99