Objectives: Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in CS into adulthood.
Method: Data were collected as part of the International Christianson Syndrome and () Gene Network Study.
Background: It is estimated that 10% or more of patients older than 65 years are affected by frailty, a mental and physical state of vulnerability to adverse surgical outcomes. Frailty can be assessed using the Edmonton Frailty Scale: a reliable and convenient multidimensional assessment before surgery. The correlation between frailty score, presurgical optimization, and surgical outcomes was investigated in this preliminary pilot study.
View Article and Find Full Text PDFMutations in the X-linked endosomal Na+/H+ Exchanger 6 (NHE6) causes Christianson Syndrome (CS). In the largest study to date, we examine genetic diversity and clinical progression, including cerebellar degeneration, in CS into adulthood. Data were collected as part of the International Christianson Syndrome and NHE6 (SLC9A6) Gene Network Study.
View Article and Find Full Text PDFPhysical inactivity and sedentary behaviors (SB) have promoted a dramatic increase in the incidence of a host of chronic disorders over the last century. The breaking up of sitting time (, sitting to standing up transition) has been proposed as a promising solution in several epidemiological and clinical studies. In parallel to the large interest it initially created, there is a growing body of evidence indicating that breaking up prolonged sedentary time (.
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