Other Rare DiseasesArchives
A case report of hemothorax due to intrathoracic variceal rupture linked to Budd-Chiari syndrome
Other Rare Diseases 3 min.
Budd-Chiari syndrome (BCS) is a rare and life-threatening hepatic vascular disease caused by obstruction of hepatic venous blood flow, with retrohepatic portal hypertension and inferior vena cava hypertension as the main clinical manifestations. The obstruction site may occur anywhere from the level...
Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement
Other Rare Diseases 5 min.
Hypophosphatasia (HPP) is a rare inherited disease that primarily affects bone and dental tissue, but also affects non-skeletal tissues. HPP is caused by either homozygous/compound heterozygous (biallelic) or heterozygous (monoallelic) ALPL gene variants resulting in deficient activity of the...
Effect of Tadalafil on cardiac function and left ventricular dimensions in Duchenne muscular dystrophy: safety and cardiac MRI substudy results from a randomized, placebo-controlled trial
Other Rare Diseases 6 min.
Duchenne muscular dystrophy (DMD) affects one in 3,500 to 5,000 live male births. Boys are diagnosed as toddlers and most lose ambulation by the age of 12 years. Death often occurs in the second decade from ventilatory insufficiency and progressive cardiac dysfunction with arrhythmia [1]. With advancements...
Management of paroxysmal nocturnal hemoglobinuria with low-level hemolysis in pregnancy– a report of two cases
Other Rare Diseases 3 min.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, clonal hematopoietic stem cell disorder characterized by hemolytic anemia and a high risk of arterial and venous thromboembolism. PNH is frequently accompanied by acquired bone marrow failure syndromes like aplastic anemia (AA) or myelodysplastic syndromes...
