Ocena radiologiczna płuc u dzieci z mukowiscydozą rozpoznaną w wyniku badania przesiewowego noworodków

Background: Cystic fibrosis is an inherited, autosomal, recessive disease. This disorder is caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR), which encodes for a protein that functions as a chloride channel. Mutations in the gene for CFTR result in ion disorders, and consequently in disturbances of exocrine glands in the respiratory, gastrointestinal, and genitourinary tracts. Pulmonary involvement occurs in 90% of patients, and is the main cause of death. The diagnosis of CF in Poland is based on clinical symptoms and positive results of the sweat test. Diacrisis is usually reached late in the 3rd year of life. In 1999-2003, newborn screening examinations were performed at the Mother and Child Institute. The idea of these studies was to establish a diagnosis and begin treatment as early as possible, even in the asymptomatic period of the disease. The level of immunoreactive trypsynogen was determined in the blood of 4-6-day-old newborns, as well as the mutation of gene CFTR. The mean age of CF diagnosis was about 38 days. The aim of our study was to assess the influence of early commencement of treatment on the rapidity of progression of pulmonary involvement. Material/Methods: 59 children with CF diagnosed by screening were examined by chest radiography in various periods of the disease, the earliest in the neonatal period. Pulmonary involvement (hyperinflation, periobronchial thickening, pulmonary nodules, cysts, parenchymal density, atelectasis and fibrosus changes) were assessed according to Brasfield score. The control group consisted of 19 children with symptomatic CF, born in 1997-2003.They were also examined by chest radiography. Results: Various pulmonary changes were recognized in 42 children diagnosed by screening. In the control group pulmonary involvement was found in 16 children. In both groups progression was found in 28% of the children, but significant progression was seen in 7% of those children with a screening diagnosis, and in 25% of the children with symptomatic CF. Conclusions: An analysis of these results suggests that early diagnosis and early commencement of treatment do not prevent pulmonary involvement, but moderate the progression of the disease

The symptomatology of aneurysmal bone cyst : the value of diagnostic imaging

Background: An aneurysmal bone cyst (ABC) is a benign lesion occurring mainly in children. Generally it is found in the metaphyses of long bones and in flat bones. Osteolysis, bone expansion, thinning of the cortex, osseous septa and fluid levels belong to the typical imaging findings in ABC cases. The purpose of the study was to determine the value of imaging methods: plain x-ray films, US, CT and MRI for the diagnosis of aneurysmal bone cyst and to work out the diagnostic algorithm for an ABC suspected on plain radiograms. Material/Methods: The material consists of 72 patients (44 boys, 28 girls) aged 2-23 years (mean age 12 yrs) with bone lesions diagnosed as aneurysmal bone cysts on pathologic examination. In all patients, plain radiographs were performed, in 26 - sonography (US), in 41 - computed tomography (CT), in 8 - magnetic resonance imaging (MRI). All the examinations were analyzed according to own system of evaluation of typical presentation in the particular methods. The histopathological diagnosis was established after biopsy or surgery. Results: The aneurysmal bone cysts were most frequently located in the long bones of the lower limbs (43%), in the long bones of the upper limbs (26.4%) and in flat bones (25%). The localization was mainly in the bone methaphyses (56.6%). On pathological examination, primary ABC was diagnosed in 65.3% of cases, secondary ABC in 23.6%, ABC and concomitant osteitis in 7%, ABC and giant cell tumor in 2.7%, ABC and chondrosarcoma in 1.4%. The application of four methods resulted in 72.2% consistency between diagnostic imaging and pathological examination. In case of only one method used the consistency was 75% for MRI, 63% for CT, 55.4% for plain films and 50% for US. In 100% of misdiagnosed cases there were no septa within osteolytic lesions on plain films, whereas in 43.8% features of malignancy were found. In 53% of misdiagnosed cases no fluid levels were observed on CT and in 69% on US. Conclusions: 1. The diagnosis of aneurismal bone cyst based on plain radiography is possible in cases with typical radiological signs. 2. Application of other methods significantly increases the percentage of correct diagnoses. 3. Lack of fluid levels does not exclude the diagnosis of ABC. 4. Imaging features of malignancy do not exclude the diagnosis of ABC

Imaging of complications after limb prostheses implantation in children with bone tumors

BACKGROUND: Tumors of the developmental age are an important problem in clinical practice. Primary bone tumors constitute 1-1.5% of all tumors, and 7% of all tumors diagnosed in the developmental age. The aim of the study was to assess the capabilities of imaging methods in diagnosing complications of limb endoprostheses in children with osteoarticular tumors. MATERIAL AND METHODS: We included 155 patients with limb endoprostheses, aged 7-26 years. There were 113 patients with knee prostheses, 1 patient with bilateral knee prostheses, 16 patients with shoulder prostheses, 14 patients with hip prostheses, 11 patients with hip and knee prostheses, and 1 patient with a femoral prosthesis. All patients underwent plain radiography and an ultrasound study. RESULTS: Complications were found in 50 patients (32% of all patients). The following complications were seen - inflammatory changes in soft tissues and bones (12 patients, 7.7%), stump fractures (11 patients, 7%), lack of elongation effect or shortening of the prosthesis (7 patients, 4.5%), prosthesis fractures (4 patients, 2.5%), crural fractures (4 patients, 2.5%), loosening of the prosthesis (3 patients, 1.9%), joint dislocation (2 patients, 1.3%), stump and prosthesis fracture (1 patient, 0.6%) and local recurrence (6 patients, 3.9%). Prostheses were exchanged for the following reasons - fractures (5 patients, 3.2%), inflammation (2 patients with 3 exchanges, 1.9%). Local recurrence and inflammation were confirmed by a biopsy. CONCLUSIONS: Radiography and ultrasonography are of crucial importance in monitoring patients after implantation of limb endoprostheses. The findings did not require confirmation in additional studies: CT and MRI. Suspicion of local recurrence and inflammation required a biopsy confirmation