Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.

Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.

Comparing Self-Perceived Awareness to Actual Awareness of the Podiatric Profession Among High School and College Students.

Background: Over the past few years there has been a decrease in the number of applicants applying to podiatric medical school. It has been suggested that this may be due to unfamiliarity with the profession of podiatric medicine. The goal of this study is to shed light on the misconceptions and lack of awareness of podiatric medicine so that the profession can better bridge the gap in knowledge with a resultant strategy to better increase recruiting efforts.

A systematic review of machine learning applications in predicting opioid associated adverse events.

Machine learning has increasingly been applied to predict opioid-related harms due to its ability to handle complex interactions and generating actionable predictions. This review evaluated the types and quality of ML methods in opioid safety research, identifying 44 studies using supervised ML through searches of Ovid MEDLINE, PubMed and SCOPUS databases. Commonly predicted outcomes included postoperative opioid use (n = 15, 34%) opioid overdose (n = 8, 18%), opioid use disorder (n = 8, 18%) and persistent opioid use (n = 5, 11%) with varying definitions.

Childhood Maltreatment and Somatic Symptoms in Adulthood: Establishing a New Research Pathway.

Background: Somatic symptoms, such as chronic pain, fatigue, and gastrointestinal disturbances, are commonly reported in individuals with a history of childhood maltreatment (CM), which includes various forms of abuse and neglect experienced before age 18. Although CM is strongly associated with somatic symptoms, the specific relationships between CM subtypes and these symptoms, as well as the mechanisms connecting them, remain insufficiently understood. This review examines the complex interaction between CM and somatic symptoms, which often coexist with mental disorders and significantly impact quality of life and healthcare systems.

Atp1a2 and Kcnj9 Are Candidate Genes Underlying Sensitivity to Oxycodone-Induced Locomotor Activation and Withdrawal-Induced Anxiety-Like Behaviors in C57BL/6 Substrains.

Opioid use disorder is heritable, yet its genetic etiology is largely unknown. C57BL/6J and C57BL/6NJ mouse substrains exhibit phenotypic diversity in the context of limited genetic diversity which together can facilitate genetic discovery. Here, we found C57BL/6NJ mice were less sensitive to oxycodone (OXY)-induced locomotor activation versus C57BL/6J mice in a conditioned place preference paradigm.