This study analyzed the contribution of the PMS2 mismatch repair gene in Lynch syndrome by assessing the pathogenicity of variants of unknown significance.
How are sociodemographic factors, educational attainment, nicotine dependence, and common psychiatric disorders associated with smoking among pregnant women?
Are patients being treated for non-small cell lung cancer generally pleased with the healthcare services that they receive, and how can their satisfaction with service be properly measured?
Multimorbidity is a key challenge for health-care systems oriented towards the treatment of individual diseases. What strategies work best to parse out which disease is causing what symptom?
The multiple painful skin lesions over the groin area of this patient were initially treated as contact dermatitis, then suspected herpes zoster--but the actual diagnosis was far more ominous.
Delusions of parasitosis, though uncommon, are an important cause of distress for affected patients and frequently of frustration for their physicians.
Why do some neurofibromatosis type 1 patients develop severe disease while others with the same mutation have only mild symptoms? This phenotypic variability may be due to modifier genes.
While a penicillin allergy was initially suspected in this young child with an itching papular rash at the site of an injection, the cause turned out to be a common, but often hidden ingredient.