Materials and methods Pediatricians administered a questionnaire to families with children affected by CD when they go into ambulatory. The questionnaire assesses the role of CAM requested by the family with regard to the natural history of the disease and the possible Adverse Effect (EA). They came to our observation (March 2014) 121 Questionnaires. Among these, 109 (90.1%) were found to be su...

Macrothrombocytopenia with leukocyte inclusions is a rare autosomal dominant platelet disorder characterized by a triad of giant platelets, thrombocytopenia, and characteristic Döhle body-like leukocyte inclusions. A previous study mapped a locus for the disease on chromosome 22q12.3-q13.2 by genome-wide linkage analysis. In addition, the complete DNA sequence of human chromosome 22 allowed a p...

Although immune thrombocytopenia is a common cause for chronic thrombocytopenia in children and adolescents other disorders potentially associated with low platelet counts should be taken into consideration. The differential diagnosis includes both hematologic malignancies and inherited platelet disorders (IPDs). Macrothrombocytopenias, a subgroup of IPDs, may result from a defective expression...

BACKGROUND AND OBJECTIVES MYH9-related disorders are autosomal dominant hereditary macrothrombocytopenias caused by mutations in the MYH9 gene. This gene encodes the non-muscular myosin heavy chain type II A (MHCIIA). Among these disorders, May-Hegglin anomaly (MHA), Sebastian syndrome (SS), and Fechtner syndrome (FS) are associated with different types of ribosome inclusions in granulocytes. F...

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an ...

BACKGROUND AND OBJECTIVES Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. Some of these diseases are exclusive to megakaryocytes and platelets, while in others the pathology extends to other cell types. Although the defective genes, coding for membrane glyoproteins, cytoskeleton components and intracellular signaling p...

Abstract. The Stratosphere-troposphere Processes and their Role in Climate (SPARC) Data Initiative (SPARC, 2017) performed the first comprehensive assessment of currently available stratospheric composition measurements obtained from an international suite space-based limb sounders. initiative's main objectives were (1) to assess state data availability, (2) compile time series vertically resol...

a) It is not true that satellites are the only means to get information on tracers at global scale. This is true for CO but not for O3 and H2O. O3 climatologies are available from a large number of ozonesondes in both the UT and the LS particularly in the NH, coincident in time with ACE-FTS, which could be used for evaluating the performances of the instrument, as done for SAGE, HALOE etc. Simi...

1Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; 2Department of Medicine, Harvard Medical School, Boston, MA; 3Division of Hematology and Oncology, Children’s Hospital, Boston, MA; 4Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA; 5Department of Biochemistry, University of Pavia, Fondazione Istituto di Ricovero e Cura a...

These studies describe elegant genomic approaches driven by HTS (also called next-generation sequencing) in unraveling the genetic abnormalities in patients with bleeding and thrombotic disorders. Each study tells an important story about the means as well as the end, establishing the disease-causing variants. They attest to the power of the HTS technology, advances in bioinformatics, large dat...