MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy. The spectrum of mutations responsible for MYH9-RD is limited. We report five families, each with a novel MYH9 mutation. Two mutations, p.Val34Gly and p.Arg702Ser, affect the motor domain of myosin-9, whereas the other three, p.Met847_Glu853dup, p.Lys1048_Glu1054del, and p.Asp1447Tyr, hit the coiled-coil tail domain of the protein. The motor domain mutations were associated with more severe clinical phenotypes than those in the tail domain.Fil: de Rocco, Daniela. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; ItaliaFil: Zieger, Barbara. University of Freiburg; AlemaniaFil: Platokouki, Helen. “Aghia Sophia” Children; GreciaFil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Instituto de Investigaciones Medicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Pastore, Annalisa. National Institute for Medical Research; Reino UnidoFil: Bottega, Roberta. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; ItaliaFil: Noris, Patrizia. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; Italia. University of Pavia; ItaliaFil: Barozzi, Serena. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; Italia. University of Pavia; ItaliaFil: Glembotsky, Ana Claudia. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Instituto de Investigaciones Medicas; ArgentinaFil: Pergantou, Helen. “Aghia Sophia” Children; GreciaFil: Balduini, Carlo L.. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; Italia. University of Pavia; ItaliaFil: Savoia, Anna. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; Italia. Universita Degli Studi Di Trieste; ItaliaFil: Pecci, Alessandro. Istituto di Ricovero e Cura a Carattere Scientifico "Burlo Garofolo"; Italia. University of Pavia; Itali

Choosing and using non-steroidal anti-inflammatory drugs in haemophilia

The management of pain and inflammation in haemophilic arthropathy is challenging due to the lack of anti-inflammatory analgesic agents perfectly suitable for this population. Non-steroidal anti-inflammatory drugs (NSAIDs) are widely used in the management of arthritis due to their analgesic and anti-inflammatory effects. Their use in persons with haemophilia (PWH), however, is limited due to increased risk of bleeding mainly from the upper gastrointestinal (UGI) tract. Cyclooxygenase-2 (COX-2) selective NSAIDs which have comparable analgesic effect to traditional NSAIDs (tNSAIDs) but with less UGI bleeding have been considered to be a suitable option for treatment of haemophilic arthropathy. COX-2 inhibitors, however, have an increased in the risk of cardiovascular (CV) disease. Although the atherosclerotic burden in PWH is similar to that in the general population, the risk of CV-related deaths is lower. PWH have a higher risk of GI bleeding and lower risk of thrombotic disease compared to general population. Therefore, when PWH require anti-inflammatory/analgesic agents, it seems reasonable to use lowest dose of COX-2 inhibitors for the shortest period together with a proton pump inhibitor. Helicobacter pylori infection should be tested for and eradicated prior to starting NSAID treatment in PWH. Furthermore, regular blood pressure and renal function test monitoring is required during COX-2 inhibitor treatment

Intravenous immunoglobulin treatment in a type 3 von Willebrand disease patient with alloantibodies and a life-threatening gastrointestinal bleed

Non peer reviewe

Fifth Åland Island conference on von Willebrand disease

The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016 – 90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release of von Willebrand factor (VWF), epidemiology and diagnostics in VWD, treatment of VWD, angiogenesis, and VWF inhibitors