Intestinal saccharidase deficiencies

High prevalence of multiple micronutrient deficiencies in children with intestinal failure: a longitudinal study.

OBJECTIVE To determine the prevalence of micronutrient deficiencies in children with intestinal failure as they transitioned from parenteral nutrition (PN) to enteral nutrition (EN). STUDY DESIGN We reviewed medical records of all patients with severe intestinal failure treated from 1999 to 2008 at a multidisciplinary intestinal rehabilitation program who had undergone micronutrient biochemic...

Vitamin deficiencies in chronic kidney disease

Multiple congenital coagulation deficiencies.

A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

Demystified...adhesion molecule deficiencies.

The basic physiology of leucocyte emigration from the intravascular space into the tissues is now known to be dependent on a class of cell surface molecules that have come to be known as adhesion molecules. Many cell-cell interactions are dependent on adhesion and signal transduction via the various adhesion molecules, particularly the integrins. The study of the functions of these molecules ha...

Evaluation of B lymphocyte deficiencies.

The most common of the primary immunodeficiency diseases are those that involve inadequate antibody production. The characteristic presentation of these disorders is recurrent sinopulmonary infections. An arrest in B cell development at the pre-B cell stage leads to agammaglobulinemia and an insignificant number of B cells. X-linked agammaglobulinemia is the most common of these developmental a...