Morphological and functional measures of large arteries should be normalized to take account of changes during adolescence and skewed distributions. Relative body mass, systolic blood pressure and/or pulse pressure are determinants of IMT and elasticity.
Subtyping according modified Beckwith & Palmer can be used in WT after preoperative therapy to stratify postoperative therapy in future. A milder therapy could be tested in differentiated WT at low stages and an intensified in the others with viable tumor left and poor response, i.e., mainly blastemal WT.
Léri-Weill syndrome (LWS) or dyschondrosteosis represents a short stature syndrome characterised by the mesomelic shortening of the forearms and lower legs and by bilateral Madelung deformity of the wrists. Recently, mutations in the pseudoautosomal homeobox gene SHOX have been shown to be causative for this disorder. This gene has previously been described as the short stature gene implicated in Turner syndrome (TS). We studied 32 Léri-Weill patients from 18 different German and Dutch families and present clinical, radiological and molecular data. Phenotypic inter-and intrafamilial heterogeneity is a frequent finding in LWS, and phenotypic manifestations are generally more severe in females. In males, muscular hypertrophy is a frequent finding. To test for SHOX mutations we used FISH, Southern blot and SSCP analysis as well as long-range PCR and sequencing. We identified (sub)microscopic deletions encompassing the SHOX gene region in 10 out of 18 families investigated. Deletion sizes varied between 100 kb and 9 Mb and did not correlate with the severity of the phenotype. We did not detect SHOX mutations in almost half (41%) the LWS families studied, which suggests different genetic etiologies.
Intussusception is the most common abdominal emergency situation in infants and small children. There has been great progress in diagnostic and therapeutic management of intussusception. Ultrasound (US) has been shown to be the first-choice imaging technique in diagnosing intussusception for reasons of high accuracy, simultaneous exclusion of differential diagnoses, and disclosure of additional pathologies. Controversial opinions exist worldwide concerning the nonoperative treatment of intussusception in infants and children. Pneumatic reduction under fluoroscopic guidance and hydrostatic reduction under US monitoring are the preferred techniques. The aim should be a success rate of at least 90% in idiopathic intussusception. This review summarizes different types of intussusception and outlines diagnostic aspects as well as several treatment concepts.
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