510 research outputs found

    Procedures and operating instructions for diagnosis in vascular anomalies and pathology

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    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

    Get PDF
    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

    The Copper Age in Northern Italy

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    During the period between the IVth and IIIrd millennia BC, profound changes for the ancient populations inhabiting the northern region of Italy occurred. The first Indo-European migrations were altering the ethnographic characteristics and, with the production of the first copper artifacts, the Neolithic Age was drawing to an end. The most significant testimony of that dramatic period is unquestionably the Ötztal iceman. In addition, many other valuable archaeological sites, such as Alba (Cuneo, Italy), have been discovered. Although Alba produced the oldest evidence of copper objects in a Neolithic context (5380 ± 40 BP; GX-25859-AMS), more recent discoveries have underlined the importance of this archaeological site. In this paper we will report on a series of radiocarbon measurements of bone remnants which, combined with morphologic, stratigraphic, paleoanthropologic, and paleopathologic studies, have allowed us to gain new insights into the culture and chronology of the European Copper Age

    Proteomic profiling of human amnion for preterm birth biomarker discovery

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    Spontaneous preterm birth (PTB) complicates about 12% of pregnancies worldwide, remaining the main cause of neonatal morbidity and mortality. Spontaneous preterm birth PTBs is often caused by microbial-induced preterm labor, mediated by an inflammatory process threatening both maternal and newborn health. In search for novel predictive biomarkers of PTB and preterm prelabor rupture of the membranes (pPROM), and to improve understanding of infection related PTB, we performed an untargeted mass spectrometry discovery study on 51 bioptic mid zone amnion samples from premature babies. A total of 6352 proteins were identified. Bioinformatics analyses revealed a ranked core of 159 proteins maximizing the discrimination between the selected clinical stratification groups allowing to distinguish conditions of absent (FIR 0) from maximal Fetal Inflammatory Response (FIR 3) stratified in function of Maternal Inflammatory Response (MIR) grade. Matrix metallopeptidase-9 (MMP-9) was the top differentially expressed protein. Gene Ontology enrichment analysis of the core proteins showed significant changes in the biological pathways associated to inflammation and regulation of immune and infection response. Data suggest that the conditions determining PTB would be a transversal event, secondary to the maternal inflammatory response causing a breakdown in fetal-maternal tolerance, with fetal inflammation being more severe than maternal one. We also highlight matrix metallopeptidase-9 as a potential predictive biomarker of PTB that can be assayed in the maternal serum, for future investigation

    Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

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    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

    Technical recommendations for implementation of Volumetric Modulated Arc Therapy and Helical Tomotherapy Total Body Irradiation

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    As a component of myeloablative conditioning before allogeneic hematopoietic stem cell transplantation (HSCT), Total Body Irradiation (TBI) is employed in radiotherapy centers all over the world. In recent and coming years, many centers are changing their technical setup from a conventional TBI technique to multi-isocenter conformal arc therapy techniques such as Volumetric Modulated Arc Therapy (VMAT) or Helical Tomotherapy (HT). These techniques allow better homogeneity and control of the target prescription dose, and provide more freedom for individualized organ-at-risk sparing. The technical design of multi-isocenter/multi-plan conformal TBI is complex and should be developed carefully. A group of early adopters with conformal TBI experience using different treatment machines and treatment planning systems came together to develop technical recommendations and share experiences, in order to assist departments wishing to implement conformal TBI, and to provide ideas for standardization of practices
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