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71.
72.
The radiographic follow-up of a patient with Proteus syndrome is presented. Review of radiographs obtained at 3 years 10 months,
10 years, and 17 years 8 months indicated that the rate of growth in length of the oversized tubular bones of the hands was
similar to that of the normal bones of the same hand. This observation supports the view that the primary lesion occurs in
the early embryonic period, when the limb bud mesenchyme cells condense and cartilage differentiates producing oversized cartilage
anlages, rather than being a defect of bone cell-mediated apposition and modelling processes of bone. Additional radiographs
of the pelvis and spine were obtained at age 4 years 10 months and head CT at 8 years 10 months. This pathogenetic mechanism
fits well with the hypothesis of somatic mosaicism, which is at present the most credible explanation for the aetiology of
Proteus syndrome. Other skeletal malformations recognized as typical of the syndrome can be interpreted as secondary adaptations
to the altered mechanical conditions induced by overgrowth of bones. 相似文献
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Prognostic factors for radiographic progression, radiographic damage, and disability in juvenile idiopathic arthritis 总被引:4,自引:0,他引:4
Magni-Manzoni S Rossi F Pistorio A Temporini F Viola S Beluffi G Martini A Ravelli A 《Arthritis and rheumatism》2003,48(12):3509-3517
OBJECTIVE: To investigate the rate of radiographic progression and identify prognostic factors of radiographic progression, radiographic damage, and physical disability in juvenile idiopathic arthritis (JIA). METHODS: Ninety-four JIA patients with a median disease duration of 1.1 years were followed up prospectively for a median of 4.5 years. Bilateral wrist radiographs were obtained at baseline, at 1 year, and at the last followup visit. Radiographic damage was assessed by the carpal length (Poznanski score), and physical disability by the Childhood Health Assessment Questionnaire (C-HAQ). Yearly radiographic progression, the Poznanski score at the final visit, and the C-HAQ score at the final visit were used as outcome measures. Baseline parameters included demographic, clinical, laboratory, and radiographic data. RESULTS: The mean +/- SD Poznanski score was -1.2 +/- 1.3 at baseline, -1.7 +/- 1.8 at the 1-year visit, and -1.9 +/- 2.2 at the final visit (P < 0.0001). Radiographic progression was greater during the first year (mean +/- SD -0.5 +/- 1.1) than between the 1-year visit and the final visit (-0.2 +/- 1.3). The mean yearly radiographic progression during the entire study period was -0.1 +/- 0.4. Logistic regression analysis revealed that radiographic progression during the first year was the only baseline parameter that was predictive of all 3 study outcomes. The final Poznanski score was also predicted by the baseline Poznanski score, whereas female sex was protective against radiographic progression. CONCLUSION: We identified the prognostic factors for poorer outcome in polyarticular-course JIA. The changes in the early Poznanski score can be used to predict long-term joint damage and physical disability. 相似文献
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F Calliada M Bergonzi C Passamonti R Campani O Bottinelli E Genovese G Beluffi E Bozzetti G Corsi A Bozzini 《La Radiologia medica》1989,78(6):607-611
The sonographic examination of hyperplastic parathyroid glands is a well-known and appreciated technique. However, its diagnostic contribution is still somehow inadequate, due to the difficult differential diagnosis of the various solid hyperechoic nodular structures in the neck and to the presence of frequently ectopic glands. The combined use of B-mode and color-Doppler US allows the vascular features of suspicious parathyroid nodules to be satisfactorily demonstrated. Higher sensitivity and specificity than conventional US are the main advantages of this technique. Still, further research is needed for B-mode color-Doppler US to actually replace fine needle biopsy in confirming the diagnosis. 相似文献
77.
Oto-palato-digital (OPD) or Tyabi syndrome is a familiar, X-linked bone dysplasia with intermediate expression, in females or autosomal dominant with more severe manifestations in males. In the past both the clinical features (flat face with sunken and broad nasal bridge, antimongoloid slant of palpebral fissures, palatoschysis, conductive deafness, short and broad thumbs and big toes, nail dystrophy) and radiological findings (thick and dense base of the skull, prominence of supraorbital ridges, middle ear bone deformities with dense ossicles, large and broad vertebral bodies, posterior defects of neural arches of the vertebrae, carpal and tarsal bone fusions, short and broad nail phalanges) have been well described and established. The present report describes 7 patients (4 females and 3 males) all belonging to the same family (the first described in this country) and all presenting the clinical and radiological features of OPD syndrome. A cranial and spinal CT was performed on one patient, with peculiar findings. 相似文献
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79.
E. Bianchi C. Livieri M. Arico E. Cattaneo A. F. Podesta G. Beluffi 《European journal of pediatrics》1984,142(4):301-303
An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal malformations. The clinical and radiological pattern of limb alterations was particularly suggestive of the features of Ruvalcaba syndrome.A complete examination confirmed the diagnosis and showed ocular involvement. To the best of our knowledge this is first published confirmation of Ruvalcaba syndrome.Abbreviation VER
visual evoked responses 相似文献
80.