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.
Magnetic Resonance (MR) imaging was carried out on 33 patients with idiopathic growth hormone deficiency, in 22 of whom CT scan had been carried-out previously. Twenty-one patients presented some complications at birth. Both MR and CT were positive in the evaluation of the sella. MR imaging exhibited a higher degree of accuracy than CT in the evaluation of pituitary gland, pituitary stalk and brain anomalies. On the basis of pituitary morphology demonstrated by MR imaging, and perinatal histories, a classification is proposed which divides our patients into three group: A) a first group of 13 patients presenting severe hypoplasia of the anterior pituitary lobe, hypoplasia of the stalk and ectopia of posterior lobe. The underlying cause of these anatomic defects might be developmental in origin, and date from early intrauterine life, probably worsened at birth. B) a second group of 10 patients presenting severe hypoplasia of the anterior pituitary lobe. A perinatal event and birth trauma might be responsible for pituitary damage. C) a third group of 10 patients with no morphological abnormalities of the pituitary gland. A derangement of the neuroendocrine mechanism which control the growth hormone secretion might account for these patients.
Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.
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