Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis.

Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cystine transporter protein, leading to tissue damage, primarily in the kidney and cornea. With the introduction of cystine-depleting therapy with cysteamine and the possibility to survive to adulthood, new challenges of skeletal complications are a concern, with sparse data available regarding bone development. The aim of the current study was to gain more information on bone density and geometry in these patients. Fifty-one patients (29 males, 22 females) with genetically-proven nephropathic cystinosis were clinically evaluated with a medical history, physical examination, grip strength measurements, biochemical and imaging studies. Bone mineral density, bone geometry and muscle cross sectional area were measured, and muscle was evaluated. Results were compared with age- and gender-specific reference data. Z-scores for height (mean [M] = -1.75, standard deviation [SD] = 1.43), weight (M = -1.67, SD = 1.29), and BMI (M = -0.98, SD = 1.29) were lower than reference data. Medullary cross-sectional area (CSA) and cortical density z-scores were not compromised (M = 0.12, SD = 1.56 and M = -0.25, SD = 1.63, respectively), but cortical CSA z-scores and Strength-Strain Index (SSI) were reduced (M = -2.16, SD = 1.08, M = -2.07, SD = 1.08). Muscular deficits were reflected by reduced z-scores for muscle CSA (M = -2.43, SD = 1.27) and grip strength (M = -3.01, SD = 1.10), along with jump force (34% lower than reference value). Multiple regression analyses indicated an association of muscle mass with medullary CSA and SSI, but not with cortical CSA. While bone density parameters were normal, bone geometry was altered, resulting in a thinner cortex with possible impact on bone strength. Muscle weakness be partially responsible for altered bone geometry and could provide a potential treatment target.

Nephropathic cystinosis is a rare lysosomal storage disease affecting primarily the kidney and cornea. With new treatment options patients survive to adulthood and challenges like bone development and fracture risk become a matter of concern. In this study we investigated bone density, bone geometry and muscle mass and function using peripheral quantitative computed tomography. We included 51 patients with genetically-proven cystinosis at an age between 6.6­39.6 years. Beside height impairment and low body weight patients had a thinner bone cortex leading to a reduced stress­strain index. This index represents the resistance of bone against torsional load and, therefore, is considered to be a good marker of bone strength: with low values fracture risk might increase. Further patients had lower muscle mass and muscle function, the latter evaluated by grip strength and jump force. Looking for the interaction of muscle and bone multiple regression analyses indicated an association of muscle mass with strength strain index. The muscle weakness might be partially responsible for altered bone geometry and lower bone strength and is possibly a treatment target, which has to be investigated in the future.

Raising awareness of uncertain choices in empirical data analysis: A teaching concept toward replicable research practices.

Throughout their education and when reading the scientific literature, students may get the impression that there is a unique and correct analysis strategy for every data analysis task and that this analysis strategy will always yield a significant and noteworthy result. This expectation conflicts with a growing realization that there is a multiplicity of possible analysis strategies in empirical research, which will lead to overoptimism and nonreplicable research findings if it is combined with result-dependent selective reporting. Here, we argue that students are often ill-equipped for real-world data analysis tasks and unprepared for the dangers of selectively reporting the most promising results. We present a seminar course intended for advanced undergraduates and beginning graduate students of data analysis fields such as statistics, data science, or bioinformatics that aims to increase the awareness of uncertain choices in the analysis of empirical data and present ways to deal with these choices through theoretical modules and practical hands-on sessions.

Surfing in the streets: How problematic smartphone use, fear of missing out, and antisocial personality traits are linked to driving behavior.

Smartphone use while driving (SUWD) is a major cause of accidents and fatal crashes. This serious problem is still too little understood to be solved. Therefore, the current research aimed to contribute to a better understanding of SUWD by examining factors that have received little or no attention in this context: problematic smartphone use (PSU), fear of missing out (FOMO), and Dark Triad. In the first step, we conducted a systematic literature review to map the current state of research on these factors. In the second step, we conducted a cross-sectional study and collected data from 989 German car drivers. A clear majority (61%) admitted to using the smartphone while driving at least occasionally. Further, the results showed that FOMO is positively linked to PSU and that both are positively associated with SUWD. Additionally, we found that Dark Triad traits are relevant predictors of SUWD and other problematic driving behaviors--in particular, psychopathy is associated with committed traffic offenses. Thus, results indicate that PSU, FOMO, and Dark Triad are relevant factors to explain SUWD. We hope to contribute to a more comprehensive understanding of this dangerous phenomenon with these findings.