A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.

A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.

Scrub Typhus and Influenza A Co-Infection: A Case Report.

Scrub typhus, caused by , is a neglected and reemerging disease that causes considerable morbidity and mortality. It now extends beyond the Tsutsugamushi Triangle, the region wherein it has traditionally been endemic. Influenza has also resurged since the infection control measures against COVID-19 were relaxed.

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.

Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia. Although enzyme replacement therapy with asfotase alfa was approved in 2015, there are few reports about the dental outcomes of this treatment.

Ravulizumab demonstrates long-term efficacy, safety and favorable patient survival in patients with paroxysmal nocturnal hemoglobinuria.

Ravulizumab is a second-generation complement component 5 (C5) inhibitor (C5i) approved for the treatment of paroxysmal nocturnal hemoglobinuria (PNH) following positive results from two pivotal trials in patients with PNH originally naive to C5i treatment and eculizumab-experienced patients with PNH. In both trials, after the 26week primary evaluation period, all patients received ravulizumab for up to 6 years. To report ravulizumab treatment outcomes in patients with PNH originally naive to C5i treatment and eculizumab-experienced patients with PNH treated for up to 6 years.

Association between salt intake and blood pressure among community-dwelling older adults based on their physical frailty status.

The effects of salt reduction and adequate nutrition intake among older adults with physical frailty remain controversial. Therefore, the present study investigated whether the association between daily salt intake and blood pressure among community-dwelling older adults, including the very old people, based on their physical frailty status. This cross-sectional study used data from the SONIC study, a cohort study on older adults, collected between 2010 and 2012.