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Aggressive Neuroblastoma in a Pediatric Patient with Severe Hemophilia A

Despite the extensive information regarding hemophilia's hemorrhagic complications, the literature on cancer in hemophilia is scarce, especially in pediatric patients. Many uncertainties remain concerning diagnosis and workup. We report a rare case of two severe diseases (neuroblastoma and hemophilia A (HA)) concomitantly present in the same pediatric patient. We highlight that the diagnosis of severe HA did no...

Guidelines on COVID-19 Vaccine Induced Thrombosis, Bleeding, and Thrombocytopenia

After widespread vaccination with COVID-19 vaccines, there have been worldwide reports on thrombosis, bleeding, and thrombocytopenia. Recently, a rare syndrome with a high mortality rate consisting of an unusual combination of thrombocytopenia and thrombosis, in particular cerebral venous sinus thrombosis, which clinically resembles heparin-induced thrombocytopenia, was reported following vaccination. Different...

Guidelines on: COVID-19 Vaccine Induced Thrombosis, Bleeding, and Thrombocytopenia

After widespread vaccination with COVID-19 vaccines, there have been worldwide reports on thrombosis, bleeding, and thrombocytopenia. Recently, a rare syndrome with a high mortality rate consisting of an unusual combination of thrombocytopenia and thrombosis, in particular cerebral venous sinus thrombosis, which clinically resembles heparin-induced thrombocytopenia, was reported following vaccination. Different...

Molecular diagnosis of haemophilia A: four novel variants identified in five pa...

Aims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (predominantly into joins, muscles and inner organs). The severity of HMA ranges from mild (5-30% activity) to moderate (2-5% activity) to severe (<1% activity)...

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: ...

Background: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia. Objectives: To describe a series of patients with familial macrothrombocytopenia and decreased expressio...

HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Home...

The HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leuk...

The role of human papillomavirus in head and neck tumors

The human papillomavirus (HPV) infection is a risk factor for the development of tumors of the head and neck. We intend to assess the prevalence of HPV in these tumors in patients without alcohol and tobacco risk factors.The presence of HPV DNA was tested by PCR (Polymerase Chain Reaction) in all patients with head and neck tumor identified between 2010 and 2013.44 patients with a mean age of 61.4 years were id...

Influência do fenótipo HLA e da razão CD4/CD8 na expressão da Doença hepática e...

Factors Predictive of Retroperitoneal Lymph Node Metastasis in Endometrial Cancer

Introduction: It has been suggested that a complete staging may be safely omitted in endometrial carcinoma patients at low risk for lymph node metastasis. The purposes of our study were to explore the prognostic significance of pathologic factors for pelvic and paraaortic nodal spread and to validate the Mayo algorithm in order to identify patients in whom lymphadenectomy may be avoided.Material and Methods: We...

Cancro Ginecológico – consensos nacionais 2013