Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of… Read More »
Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »
Amzeeq (minocycline; Foamix) topical foam 4% will soon be available (January 13, 2020) by prescription for the treatment of inflammatory lesions of non-nodular moderate to severe acne vulgaris in patients aged 9 years and older. Amzeeq utilizes Foamix’s proprietary Molecule Stabilizing Technology (MST) platform to deliver minocycline, a tetracycline-class drug, in a foam formulation; it… Read More »
We must ensure their relevance to contemporary patient care By LONNY REISMAN, MD It’s 1992 and disruptive technologies of the day are making headlines: AT&T releases the first color videophone; scientists start accessing the World Wide Web; Apple launches the PowerBook Duo. In healthcare, with less fanfare, a Harvard physician named Dr. Burton “Bud” Rose… Read More »
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. Individuals with… Read More »
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision… Read More »