Doctors told his mother Lisa van Dyke that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance to have another child with the disease. Hunter Steinitz (born October 17, 1994) is one of only twelve Americans living with the disease and is profiled on the National Geographic "Extraordinary Humans: Skin" special. Mui Thomas (born in 1992 in Hong Kong) qualified as first rugby referee with harlequin ichthyosis. A female baby born in Nagpur, India in June 2016 died after two days. She is reported as the first case in India. References
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Information from the U.S. National Institutes of Health
It has recently been shown that the oxidative stress associated with cigarette smoke can inhibit the activity of HDAC2, thereby blocking the anti-inflammatory effects of corticosteroids.) Pharmacokinetics
Absorption
When theophylline is administered intravenously, bioavailability is 100%. Distribution
Theophylline is distributed in the extracellular fluid, in the placenta, in the mothers milk and in the central nervous system. The volume of distribution is 0.5 L/kg. The protein binding is 40%. The volume of distribution may increase in neonates and those suffering from cirrhosis or malnutrition, whereas the volume of distribution may decrease in those who are obese. Metabolism
Theophylline is metabolized extensively in the liver (up to 70%). It undergoes N-demethylation via cytochrome P450 1A2. It is metabolized by parallel first order and Michaelis-Menten pathways. Metabolism may become saturated (non-linear), even within the therapeutic range. Small dose increases may result in disproportionately large increases in serum concentration. Methylation to caffeine is also important in the infant population. Smokers and people with hepatic (liver) impairment metabolize it differently. Both THC and nicotine have been shown to increase the rate of theophylline metabolism. Excretion
Theophylline is excreted unchanged in the urine (up to 10%). Clearance of the drug is increased in children (age 1 to 12), teenagers (12 to 16), adult smokers, elderly smokers, as well as in cystic fibrosis, and hyperthyroidism.