11beta-Hydroxysteroid dehydrogenase type 2 (11betaHSD2) is a short-chain dehydrogenase/reductase (SDR) responsible for inactivating cortisol and preventing its binding to the mineralocorticoid receptor (MR). Nonfunctional mutations in HSD11B2, the gene encoding 11betaHSD2, cause the hypertensive syndrome of apparent mineralocorticoid excess (AME). Like other such Mendelian disorders, AME is rar...

Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but...

Definitions Also referred to as crib or cot death, SIDS has been defined by the National Institutes of Health Consensus Development Conference on Infantile Apnea and Home Monitoring as “the sudden death of an infant or young child, which is unexplained by history and in which a thorough postmortem evaluation fails to demonstrate an adequate cause of death.” A thorough postmortem evaluation incl...

AIM To determine whether biochemical parameters of cholinergic and oxidative stress function including red cell acetylcholinesterase (AChE), serum/plasma thyroglobulin, selenium, iron, ferritin, vitamins C, E, and A affect risk in apparent life-threatening event (ALTE), sudden infant death syndrome (SIDS), and sudden unexpected death in infancy (SUDI). To assess these biochemical parameters as ...

In sudden infant death syndrome (SIDS) apnea is the terminal event; whether or not an obstructive apnea is the primary event is unknown. Collapse of the pliable pharyngeal airway during life would not be detected after death and is therefore hard to prove. The distinctive distribution of petechiae at necropsy can be explained by negative intrathoracic pressure before death suggesting upper airw...

The aim of this study was to investigate the contribution of reduced apparent clearance to the enhanced exposure reported for biodegradable nanoparticles after extravascular and intravascular routes of administration. Plasma concentration profiles for drug and nanoparticle formulations after administration by intravenous, intraduodenal, and oral routes were extracted from the literature. Data w...

BACKGROUND Children who present to the emergency department following an apparent life-threatening event (ALTE) often appear well, have a normal physical examination, and usually do well. The incidence of mortality following an event appears to occur infrequently, but has not been well described. However, it has been our experience that children who are victims of occult child abuse have a high...