A discrepancy exists with regard to the effect of smartphone applications (apps) on weight reduction due to the several limitations of previous studies. This is a retrospective cohort study, aimed to investigate the effectiveness of a smartphone app on weight reduction in obese or overweight individuals, based on the complete enumeration study that utilized the clinical and logging data entered by Noom Coach app users between October 2012 and April 2014. A total of 35,921 participants were included in the analysis, of whom 77.9% reported a decrease in body weight while they were using the app (median 267 days; interquartile range = 182). Dinner input frequency was the most important factor for successful weight loss (OR = 10.69; 95% CI = 6.20–19.53; p < 0.001), and more frequent input of weight significantly decreased the possibility of experiencing the yo-yo effect (OR = 0.59, 95% CI = 0.39–0.89; p < 0.001). This study demonstrated the clinical utility of an app for successful weight reduction in the majority of the app users; the effects were more significant for individuals who monitored their weight and diet more frequently.

EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0-68 years) with suspected genetic disorders were subjected to whole exome sequencing. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments. EVIDENCE reported a total 228 variants in 200 (60.6%) of the 330 probands. The average number of organs involved per patient was 4.5 ± 5.0. After clinical reassessment and/or family member testing, 167 variants were identified in 141 probands (42.7%), including 105 novel variants. These variants were confirmed as being responsible for 121 genetic disorders. A total of 103 (61.7%) of the 167 variants in 95 patients were classified as pathogenic or probably to be pathogenic before, and 161 (96.4%) variants in 137 patients (41.5%) after, clinical assessment and/or family member testing. Factor associated with a variant being regarded as causative includes similar symptom Go Hun Seo, Taeho Kim, and In Hee Choi contributed equally to this work.

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Several studies have analyzed the effects of weather on factors associated with weight loss. In this study, we directly analyzed the effect of weather on intentional weight loss using global-scale data provided by smartphone applications. Through Weather Underground API and the Noom Coach application, we extracted information on weather and body weight for each user located in each of several geographic areas on all login days. We identified meteorological information (pressure, precipitation, wind speed, dew point, and temperature) and self-monitored body weight data simultaneously. A linear mixed-effects model was performed analyzing 3274 subjects. Subjects in North America had higher initial BMIs than those of subjects in Eastern Asia. During the study period, most subjects who used the smartphone application experienced weight loss in a significant way (80.39%, p-value < 0.001). Subjects who infrequently recorded information about dinner had smaller variations than those of other subjects (βfreq.users dinner*time = 0.007, p-value < 0.001). Colder temperature, lower dew point, and higher values for wind speed and precipitation were significantly associated with weight loss. In conclusion, we found a direct and independent impact of meteorological conditions on intentional weight loss efforts on a global scale (not only on a local level).

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with Floating-Harbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.