Pluralism, Community and Civil Society at Regional Level : An Analysis from a Viewpoint of Historical Research

textabstractOBJECTIVE. The purpose of this article is to present and discuss the susceptibilityweighted imaging signal characteristics of the normal pediatric brain and those of a variety of pediatric brain pathologic abnormalities. CONCLUSION. Its high susceptibility for blood products, iron depositions, and calcifications makes susceptibility-weighted imaging an important additional sequence for the diagnostic workup of pediatric brain pathologic abnormalities. Compared with conventional MRI sequences, susceptibility-weighted imaging may show lesions in better detail or with higher sensitivity. Familiarity with the pediatric susceptibility-weighted imaging signal variance is essential to prevent misdiagnosis

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Early-onset Parkinson’s disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Although many different rearrangements have been found in parkin before, the exact breakpoints involving these rearrangements are rarely mapped. In the present study, the exact breakpoints of 13 different parkin deletions/duplications, detected in 13 patients out of a total screened sample of 116 EOPD patients using Multiple Ligation Probe Amplification (MLPA) analysis, were mapped using real time quantitative polymerase chain reaction (PCR), long-range PCR and sequence analysis. Deletion/duplication-specific PCR tests were developed as a rapid and low cost tool to confirm MLPA results and to test family members or patients with similar parkin deletions/duplications. Besides several different deletions, an exon 3 deletion, an exon 4 deletion and an exon 7 duplication were found in multiple families. Haplotype analysis in four families showed that a common haplotype of 1.2 Mb could be distinguished for the exon 7 duplication and a common haplotype of 6.3 Mb for the deletion of exon 4. These findings suggest common founder effects for distinct large rearrangements in parkin

Chronic lower urinary tract symptoms in women: Classification of abnormalities and value of dedicated MRI for diagnosis

OBJECTIVE. Chronic lower urinary tract symptoms are common in women. We present a classification of abnormalities that can be considered in the differential diagnosis for lower urinary tract symptoms and can show the value of dedicated state-of-the art MRI in the workup of patients. CONCLUSION. Dedicated MRI tailored to patient symptoms and clinical findings has the potential to map out morphologic causes and categorize dysfunctional conditions from those that are truly nonmorphologic