African Tick Bite Fever

The purpose of this study was to determine whether wearable activity trackers are effective tools to promote change in adult users. Individuals who wear activity trackers and also have been or are currently in physical therapy were interviewed to determine if the tracker and its features of goal setting, graphs, tracking mechanisms, and challenges motivated them to be more physically active, lose weight, or help them transition into a regular physical activity program that their physical therapist promoted. The three psychological needs of autonomy, competence, and relatedness were assessed in the interviews to determine if the tracker met these needs. The individual’s use of different features on the tracker and how they use it daily was also assessed to determine how their motivation has changed since using the tracker. The information was used to determine if the tracker was an effective tool that helped the individual make a change in their level of physical activity

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder. Here, however, we report on a different kind of genetic disorder that is due to functionally compromised ATR activity, which translates into an autosomal-dominant inherited disease. The condition affects 24 individuals in a five-generation pedigree and comprises oropharyngeal cancer, skin telangiectases, and mild developmental anomalies of the hair, teeth, and nails. We mapped the disorder to a ∼16.8 cM interval in chromosomal region 3q22–24, and by sequencing candidate genes, we found that ATR contained a heterozygous missense mutation (c.6431A>G [p.Gln2144Arg]) that segregated with the disease. The mutation occurs within the FAT (FRAP, ATM, and TRRAP) domain—which can activate p53—of ATR. The mutation did not lead to a reduction in ATR expression, but cultured fibroblasts showed lower p53 levels after activation of ATR with hydroxyurea than did normal control fibroblasts. Moreover, loss of heterozygosity for the ATR locus was noted in oropharyngeal-tumor tissue. Collectively, the clinicopathological and molecular findings point to a cancer syndrome and provide evidence implicating a germline mutation in ATR and susceptibility to malignancy in humans