Procedures and operating instructions for diagnosis in vascular anomalies and pathology

In the last 30 years a revolution has occurred in the diagnosis and management of vascular anomalies. The great changes began with Mulliken and Glowacki separation of hemangiomas and vascular anomalies. Their work has now morphed into the ISSVA classification. Subsequently the discovery of the significance of the presence of GLUT-1 in the diagnosis of the hemangiomas of infancy gave us a new marker in our quest for accurate classification. Now genetic breakthroughs have led us into a \u201cStar Wars\u201d like environment in the experimental laboratory. During all these events the critical role of the pathologist has become more evident. Understanding the histopathology of anomalies has greatly aided in our approach to therapies. Moreover, genetic findings do not have full significance without the morphologic framework

procedures and operating instructions for diagnosis in vascular anomalies and pathology

In the last 30 years a revolution has occurred in the diagnosis and management of vascular anomalies. The great changes began with Mullikenand Glowacki separation of hemangiomas and vascular anomalies. Their work has now morphed into the ISSVA classification. Subsequentlythe discovery of the significance of the presence of GLUT-1 in the diagnosis of the hemangiomas of infancy gave us a new markerin our quest for accurate classification. Now genetic breakthroughs have led us into a "Star Wars" like environment in the experimental laboratory.During all these events the critical role of the pathologist has become more evident. Understanding the histopathology of anomalieshas greatly aided in our approach to therapies. Moreover, genetic findings do not have full significance without the morphologic framewor

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

Mutations in the WWOX gene cause a broad range of ultra-rare neurodevelopmental and brain degenerative disorders, associated with a high likelihood of premature death in animal models as well as in humans. The encoded Wwox protein is a WW domain-containing oxidoreductase that participates in crucial biological processes including tumor suppression, cell growth/differentiation and regulation of steroid metabolism, while its role in neural development is less understood. We analyzed the exomes of a family affected with multiple pre- and postnatal anomalies, including cerebellar vermis hypoplasia, severe neurodevelopmental impairment and refractory epilepsy, and identified a segregating homozygous WWOX mutation leading to a premature stop codon. Abnormal cerebral cortex development due to a defective architecture of granular and molecular cell layers was found in the developing brain of a WWOX-deficient human fetus from this family. A similar disorganization of cortical layers was identified in lde/lde rats (carrying a homozygous truncating mutation which disrupts the active Wwox C-terminal domain) investigated at perinatal stages. Transcriptomic analyses of Wwox-depleted human neural progenitor cells showed an impaired expression of a number of neuronal migration-related genes encoding for tubulins, kinesins and associated proteins. These findings indicate that loss of Wwox may affect different cytoskeleton components and alter prenatal cortical development, highlighting a regulatory role of the WWOX gene in migrating neurons across different species

Carlo Cristini: un ricordo a più voci

Ricordo di Carlo Cristini quale ricercatore nell'ambito della psicologia dell'invecchiament