Subject(s)
Gait Ataxia/diagnosis , Neuroaxonal Dystrophies/diagnosis , Atrophy , Base Pairing/genetics , Cerebellum/pathology , Child, Preschool , Chromosome Deletion , DNA Mutational Analysis , Diagnosis, Differential , Disease Progression , Exons/genetics , Frontal Lobe/pathology , Group VI Phospholipases A2/genetics , Homozygote , Humans , Magnetic Resonance Imaging , Male , Neuroaxonal Dystrophies/genetics , Temporal Lobe/pathology , Valine/geneticsSubject(s)
Continuous Positive Airway Pressure/adverse effects , Pneumopericardium/etiology , Respiratory Distress Syndrome, Newborn/therapy , Follow-Up Studies , Humans , Hypoxia/diagnostic imaging , Hypoxia/etiology , Hypoxia/therapy , Infant, Newborn , Male , Pericardiocentesis , Pneumopericardium/diagnostic imaging , Pneumopericardium/therapy , Radiography , Recurrence , Respiratory Distress Syndrome, Newborn/diagnostic imagingABSTRACT
BACKGROUND/AIMS: Osteogenesis imperfecta (OI) is a hereditary disease causing increased bone fragility. Pamidronate (PAM), which has to be administered as a 3-day course according to the original protocol by Glorieux, is the most frequently used therapy. Other bisphosphonates like neridronate (NER), which can be infused during an outpatient visit, have also proven to be effective. This is the first analysis comparing the effect of PAM and NER using vertebral morphometry. METHODS: 28 patients with OI type III and IV were retrospectively analyzed by matched pairs. RESULTS: No differences were detected between patients treated with PAM or NER at the start of therapy: mean age 4.4 years (p = 0.730), mean height 86.8 cm/85.3 cm (p = 0.854), lumbar vertebral area 208.9 mm(2)/206.0 mm(2) (p = 0.555), and in all vertebral indices. After 1 year of treatment (mean 1.16 years; p = 0.854) both groups showed a significant increase in the vertebral area and improved vertebral indices. Again there were no differences between the groups in the vertebral area (p = 0.590). CONCLUSION: In this study there was no difference between patients treated with PAM or NER regarding vertebral morphometry during the first year of therapy. Because of the possibility of an outpatient setting, NER is convenient for these children.
Subject(s)
Bone Remodeling/drug effects , Diphosphonates/therapeutic use , Osteogenesis Imperfecta/drug therapy , Spine/drug effects , Absorptiometry, Photon , Adolescent , Bone Density/drug effects , Bone Density Conservation Agents/therapeutic use , Case-Control Studies , Child , Child, Preschool , Cohort Studies , Female , Humans , Infant , Infant, Newborn , Male , Pamidronate , Retrospective Studies , Spine/metabolism , Spine/physiologyABSTRACT
PURPOSE: In this study we present a standard for radiological reports in patients with osteogenesis imperfecta (OI). The parameters can be used to describe X-rays of the lateral spine and give an impartial description of anatomical structures during a treatment with bisphosphonates. MATERIAL AND METHODS: In this retrospective analysis we included 48 patients with OI (31 female, 17 male [1.5 months - 19 years, mean age 9.0 years]). Lateral spine X-rays were analyzed by 2 radiologists before and during treatment. The parameters of the standardized report are degree of kyphoscoliosis, compression of single vertebrae, predominant type of vertebral deformities and extent of vertebral compression (score 1 - 5). RESULTS: There was no clear trend in the change of compression of single vertebrae. Some vertebrae with ventral compression showed an upgrowth to vertebrae with harmonic compression. Other deformities showed only marginal changes. In 26 patients the kyphoscoliosis improved (mean 10 degrees), in 36 patients the thoracic vertebrae compression increased and in 30 patients the vertebral height in the lumbar spine increased. The improvement of vertebral height was 1 point in the thoracic and lumbar spine. CONCLUSION: We propose a standardized report of X-rays of the lateral spine in patients with OI with quantitative and semiquantitative parameters using morphological criteria. These include compression of single vertebrae, degree of kyphoscoliosis, vertebral deformities and the severity of vertebral compression in the thoracic and lumbar spine.
Subject(s)
Kyphosis/diagnostic imaging , Lumbar Vertebrae/diagnostic imaging , Osteogenesis Imperfecta/diagnostic imaging , Scoliosis/diagnostic imaging , Thoracic Vertebrae/diagnostic imaging , Bone Density Conservation Agents/therapeutic use , Child , Child, Preschool , Diphosphonates/therapeutic use , Female , Humans , Infant , Male , Osteogenesis Imperfecta/drug therapy , RadiographyABSTRACT
PURPOSE: The occlusion of the left portal vein in newborn infants is shown and discussed in 14 cases. MATERIALS AND METHODS: The occlusion of the left portal vein in ten male and in four female newborn infants was diagnosed using ultrasound. Only one of the newborn infants was treated with an umbilical vessel catheter. In one case the occlusion of the left portal vein was suspected in an MRI. In the remaining 12 patients, the diagnosis was an incidental finding. RESULTS: Real-time ultrasound showed a hyperechogenic left portal vein without receiving a signal in duplex sonography in thirteen patients. A partly obstructive thrombus was only seen in one patient. Seven patients had enlarged and increased liver arteries already during the primary examination. Recanalization was achieved in two patients who received anticoagulative treatment and in one patient spontaneously. In the other eleven patients the liver arteries increased in caliber and number. DISCUSSION: The origin of the occlusion of the left portal vein is based on the adjustment to the postnatal hemodynamic situation in the umbilical recess. So far there is no evidence of the development of a permanent defect. For this reason and because of the possibility of spontaneous recanalization, treatment with anticoagulative drugs is hardly questioned. CONCLUSION: Occlusion of the left portal vein is mostly an incidental finding. It may appear without catheterizing the umbilical vessel and might be a reason for the "idiopathic lack" of the left portal vein.
Subject(s)
Image Interpretation, Computer-Assisted , Infant, Premature, Diseases/diagnostic imaging , Portal Vein/diagnostic imaging , Thrombosis/congenital , Thrombosis/diagnostic imaging , Ultrasonography, Doppler, Color , Ultrasonography, Doppler, Duplex , Blood Flow Velocity/physiology , Catheterization/adverse effects , Follow-Up Studies , Hemodynamics/physiology , Humans , Incidental Findings , Infant, Newborn , Umbilical VeinsABSTRACT
Central venous catheters are established as vascular access in hemodialysis therapy. Vascular catheter misdirection may occur and is a well known problem. We present a rare catheter malposition in a young dialysis patient with consequent dilatation of the azygos vein system, simulating the appearance of an azygos continuation syndrome.
