Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease. Signs and symptoms
The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge.Most people with WS are highly verbal relative to their intelligence, and are often very sociable, having what has been described as a "cocktail party"-type personality. People with Williams syndrome hyperfocus on the eyes of others in social engagements. Physical
People with WS experience many cardiac problems, commonly heart murmurs and the narrowing of major blood vessels, as well as supravalvular aortic stenosis. Other symptoms may include gastrointestinal problems, such as severe or prolonged colic, abdominal pain and diverticulitis, nocturnal enuresis (bed wetting) and urinary difficulties, dental irregularities and defective tooth enamel, and hormone problems, the most common being hypercalcemia. Hypothyroidism has been reported to occur in children, although no proof has been found of it occurring in adults; adults with WS have a higher risk of developing type-2 diabetes, with some cases apparent as young as 21 years old.People with WS often have hyperacusia and phonophobia, which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve. People with WS can also tend to demonstrate a love of music, and they appear significantly more likely to possess absolute pitch.
A 2006 in vitro study found that miltefosine is effective against metronidazole-resistant variants of Trichomonas vaginalis, a sexually transmitted protozoal disease. Cetrimonium bromide, a compound related to miltefosine, was demonstrated in 2007 to exhibit potent in vitro activity against Plasmodium falciparum. An in vitro test in 2006 showed that miltefosine is effective against the deadly protozoan pathogens, Naegleria fowleri, Balamuthia mandrillaris, and Acanthamoeba. However, later studies showed that it is not as potent as other drugs, such as chlorpromazine and diminazene aceturate (Berenil). In 2013, there were reports of failure of miltefosine in the treatment of leishmaniasis. Although drug resistance was suspected, studies in 2014 reported that miltefosine is not so effective in children, most probably related to a lack of drug exposure in children. Moverover, males appeared to have a higher probability of relapse as well. A 2012 in vitro study found that miltefosine had promising activity against Candida albicans biofilms. Anti-HIV activity
Miltefosine targets HIV infected macrophages, which play a role in vivo as long-lived HIV-1 reservoirs. The HIV protein Tat activates pro-survival PI3K/Akt pathway in primary human macrophages. Miltefosine acts by inhibiting the PI3K/Akt pathway, thus removing the infected macrophages from circulation, without affecting healthy cells. It significantly reduces replication of HIV-1 in cocultures of human dendritic cells (DCs) and CD4+ T cells, which is due to a rapid secretion of soluble factors and is associated with induction of type-I interferon (IFN) in the human cells. References
External links
"Miltefosine". Drug Information Portal. U.S. National Library of Medicine.