After injury to the blood vessel, platelets adhere to the exposed subendothelium by a process (adhesion) that involves the interaction of a plasma protein, von Willebrand factor (vWF), and a specific protein on the platelet surface, glycoprotein Ib (GPIb; the Figure). Adhesion is followed by recruitment of additional platelets that form clumps, a process called aggregation (cohesion). This invo...

Introduction Congenital metabolic disorders refer to inherited defects producing metabolic abnormalities in the human body. Disorders that disrupt the central nervous system (CNS) are of great importance. These disorders produce a paradoxical situation for neuroradiologists and imaging scientists investigating them. One would hypothesize that an error in metabolism would produce either an exces...

C ongenital heart disease (CHD) is one of the most common inborn defects, occurring in 0.5-1.2% of newborns. Increasing numbers of affected infants now survive into adulthood, which is a estament to the major advances in surgical technique, post-operative are, and medical treatment. The number of adults with CHD in the U.S. as reached 800,000, and this number will undoubtedly continue to row wi...

The principal characteristics of some of the more common heredofamilial and congenital glomerular disorders are described and illustrated. Diabetes mellitus, the most common heredofamilial glomerular disease, is illustrated in Volume IV, Chapter 1. These disorders are inherited in a variety of patterns (X-linked, autosomal dominant, or autosomal recessive). Many of these disorders appear to be ...

purpose: to evaluate the etiology of cataracts in children less than 3 years of age particularly the association of rubella virus infection and galactosuria with congenital cataracts at khalili hospital, shiraz-iran from 2003 to 2006. methods: this prospective study included 46 patients less than 3 years undergoing lensectomy for the management of significant cataracts. lens aspirate specimens ...

Immunodeficiencies of most T-cell receptor (TCR) components (TCRID) have been reported in almost 40 patients worldwide who have also, at times, shown signs of autoimmunity. We updated their clinical, immunological, and molecular features with an emphasis on practical diagnosis, as the range of the disorder grows in complexity with new partial defects. Cellular and animal models are also reviewe...

In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people...

BACKGROUND The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES To ascertain the effectiveness of the current national CD surveillanc...

Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focu...