Ultrasonography (US) of the spinal cord is performed in newborns with signs of spinal disease (cutaneous lesions of the back, deformities of the spinal column, neurologic disturbances, suspected spinal cord injury due to traumatic birth, and syndromes with associated spinal cord compression). The examination is performed with high-frequency linear- and curved-array transducers in the sagittal and axial planes from the craniocervical junction to the sacrum. Normal variants such as transient dilatation of the central canal and ventriculus terminalis can be demonstrated with US. US allows detection of congenital malformations, such as myelocele or myelomeningocele, spinal lipoma, dorsal dermal sinus, tight filum terminale syndrome, diastematomyelia, terminal myelocystocele, lateral meningocele, caudal regression syndrome, and hydromyelia or syringomyelia. Acquired intraspinal diseases following birth trauma and transient alterations after lumbar puncture can also be detected with US. US can demonstrate the entire spectrum of intraspinal anatomy and pathologic conditions with high geometric resolution. Therefore, US should be considered the initial imaging modality of choice for investigating the spinal cord in newborns.

It is widely accepted that CF lung disease starts before clinical symptoms become apparent or spirometry deteriorates. Computed chest tomography (CT) is the reference method for identifying structural changes in CF; however, radiation exposure limits its use as a monitoring tool. It has been suggested that the Lung Clearance Index (LCI) measured by Multiple Breath Washout (MBW) for assessing ventilation inhomogeneity is a more sensitive surrogate marker than spirometry allowing non-invasive monitoring of CF lung disease. The aim of this study was to prospectively investigate the diagnostic accuracy of the LCI in comparison to CT in CF patients with early lung disease and normal FEV(1) (>80% pred.). MBW and ultra-low-dose CT were performed in 34 patients (6-26 years). LCI was abnormal in 76.5% subjects. LCI and CT correlated significantly in 82.3%. LCI was related to presence and extent of structural lung changes observed on CT with a sensitivity of 88%. Diagnostic accuracy of the LCI for detecting CF lung disease in patients with normal FEV(1) was good when compared to CT. Results indicate that structural changes are unlikely if a normal LCI is measured. We speculate that serial measurements of the LCI for assessing ventilation inhomogeneity may help to identify early structural lung disease and help to reduce the individual cumulative radiation dose. The LCI may be a suitable surrogate marker for monitoring progression of CF lung disease and effect of treatment in both, clinical care and research settings.

femur. An X linked spondyloepimetaphyseal dysplasia with mental retardation was described by Bieganski et al. 2 In our opinion, our patients do not share the clinical and radiological symptoms of this entity.The association of a spondyloepimetaphyseal dysplasia and abnormal dentition has been described by Rao et al. 3 However, the spondylar and epimetaphyseal abnormalities in that condition are much milder and the tubular bones of the hands are slender. Dental anomalies in the Goldblatt syndrome are associated with spondylar and metaphyseal abnormalities but not with such severe epiphyseal changes as seen here . 4 5 The clinical and radiographic signs of the disorder described here are suYciently characteristic to diVerentiate it from other rare spondylometaepiphyseal dysplasias including SMED, short limb-abnormal calcification type, 6-8 spondyloepimetaphyseal dysplasia (SEMD) with eczema and hypogammaglobulinaemia, 9 micromelic SMED, 10 micromelic dwarfism, humerus, femur, tibia type, 11 SEMD Irapa type, 12 SEMD Shohat type, 13 or SEMD caused by ATP sulphurylase kinase 2 deficiency. 14 15In conclusion, the observation of two aVected sibs confirms and expands the identity of a bone dysplasia which we propose to name anauxetic dysplasia on the basis of the extreme dwarfism resulting from a severe pre-and postnatal disturbance of skeletal growth and diVerentiation.We thank Professor C Opitz for providing the orthopantomogram of patient 2.

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BackgroundHomeostatic mechanisms to maintain the T cell compartment diversity indicate an ongoing process of thymic activity and peripheral T cell renewal during human life. These processes are expected to be accelerated after childhood thymectomy and by the influence of cytomegalovirus (CMV) inducing a prematurely aged immune system.The study aimed to investigate proportional changes and replicative history of CD8+ T cells, of recent thymic emigrants (RTEs) and CD103+ T cells (mostly gut-experienced) and the role of Interleukin-(IL)-7 and IL-7 receptor (CD127)-expressing T cells in thymectomized patients compared to young and old healthy controls.ResultsDecreased proportions of naive and CD31 + CD8+ T cells were demonstrated after thymectomy, with higher proliferative activity of CD127-expressing T cells and significantly shorter relative telomere lengths (RTLs) and lower T cell receptor excision circles (TRECs). Increased circulating CD103+ T cells and a skewed T cell receptor (TCR) repertoire were found after thymectomy similar to elderly persons. Naive T cells were influenced by age at thymectomy and further decreased by CMV.ConclusionsAfter childhood thymectomy, the immune system demonstrated constant efforts of the peripheral CD8+ T cell compartment to maintain homeostasis. Supposedly it tries to fill the void of RTEs by peripheral T cell proliferation, by at least partly IL-7-mediated mechanisms and by proportional increase of circulating CD103+ T cells, reminiscent of immune aging in elderly. Although other findings were less significant compared to healthy elderly, early thymectomy demonstrated immunological alterations of CD8+ T cells which mimic features of premature immunosenescence in humans.