rare bleeding disorders (rbds) are a heterogeneous group of disorders including different types of coagulation factor deficiencies. the disorders are inherited in an autosomal recessive manner with different frequencies varying from 1:500000 to 1:2000000. patients affected with rbds are presented with a wide spectrum of clinical manifestations ranging from mild to life threatening bleeding diat...

Individuals with genetically determined complement deficiencies have a variety of clinical presentations. Most patients present with an increased susceptibility to infection, otherswith a variety of rheumatic diseases, still others with angio-oedema, and in rare instances, patients may even be asymptomatic. The elucidation of the pathophysiological basis for the different clinical presentations...

Paediatricians have long been deeply concerned with problems of infection. The sharp decrease in childhood mortality in recent decades in highly developed countries is mainly due to progress in preventing and treating infection: for example, in Switzerland in 1973 there were about 88 000 births and only 16 deaths due to infection in children aged between 2 and 4 years in contrast to 76 killed b...

Vitamin B3 occurs in two forms, nicotinamide and nicotinic acid. They were first isolated from liver in 1937 by Conrad El-vehjem and shown to be what was then called the PP factor or pellagra preventative factor. The name was later changed to vitamin B3, commonly called niacin for the nicotinic acid form and niacinamide for the amide form. Soon after, a synopsis of the early research on the com...

metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...