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Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases. [ABSTRACT FROM AUTHOR]

In a reanalysis of the Million Women Study (MWS), their authors concluded that prolonged use of hormone replacement therapy (HRT) in postmenopausal women increases the risk of ovarian cancer. Although statistically significant their results are clinically irrelevant, since the attributable risk over 5 years is only 4 per 10 000 HRT users, a figure that is not confirmed by other large studies. This risk is much lower than those associated with obesity, lack of physical exercise, smoking and nulliparity, all of which are preventable. Therefore HRT should continue to be prescribed for symptom relief and improvement of quality of life because the benefits far outweigh the very low potential risks. [ABSTRACT FROM AUTHOR]