bioRxiv ScienceSearch

bioRxiv · 10.1101/659318

Identifying Women at Risk for Polycystic Ovary Syndrome Using a Mobile Health Application

Abstract

BackgroundPolycystic ovary syndrome (PCOS) is an endocrine disrupting disorder affecting at least 10 percent of reproductive-aged women. Women with PCOS are at increased risk for diabetes and cardiovascular disease. In North America and Europe, the diagnosis of PCOS may be delayed several years and may require multiple doctors resulting in lost time for risk-reducing interventions. Menstrual tracking applications are one potential tool to alert women of their risk for PCOS while also prompting them to seek evaluation from a medical professional.\n\nObjectiveThe objective of this study was to develop the Irregular Cycles Feature (ICF), an adaptive questionnaire, on the mobile phone application (app) Clue(R) to generate a probability of a virtual test subjects risk for PCOS. The secondary objective was to assess the accuracy of the ICF by comparing the probability of risk generated by the app to a probability generated by a physician.\n\nMethodsFirst, a literature review was conducted to generate a list of signs and symptoms of PCOS, termed variables. These include, but are not limited to, hirsutism, acne, and alopecia. Probabilities were assigned to each variable and built into a Bayesian network. The network served as the backbone of the ICF, which identified potential subjects through self-reported menstrual cycles and answers to medical history questions. Upon completion of the questionnaire, a Result Screen summarizing the virtual test subjects probability of having PCOS is displayed. For each eligible virtual test subject, a Doctors Report containing information regarding tracked menstrual cycles and self-reported medical history is generated. Both of these documents share information about PCOS and detailed explanations for facilitating a diagnosis by a medical provider. Virtual test subjects were assigned probabilities by a) the ICF and b) a board-certified reproductive endocrinology/infertility physician-scientist, which served as the gold standard. The ICF was set to recommend individuals with a score greater than or equal to 25% to follow-up with their physician. Differences between the network and physician probability scores were assessed using a t-test and a Pearson correlation coefficient. An additional iteration was performed to improve the ICFs prediction capability.\n\nResultsThe first iteration of the ICF produced only one false positive compared to the physician screening score and had an absolute mean difference of 15.5% (SD= 15.1%) amongst virtual test subjects. Upon modification of the ICF, the second iteration had two false positives as compared to the physician screening score and had an absolute mean difference of 18.8% (SD = 13.6%). The majority of virtual test subjects had an ICF score that over predicted PCOS when compared to the physician. However, there was strong positive significant correlation between the ICF and the physician score (Pearson correlation coefficient= 0.69; p < 0.01). The second iteration performed worse with a Pearson correlation coefficient of 0.54; p > 0.01).\n\nConclusionThe first iteration ICF, as compared to the second, was better able to predict the probability of PCOS and can potentially be used as a screening tool to prompt a high-risk subject to seek evaluation by a medical professional.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Rodriguez, E. M., Thomas, D., Druet, A., Wheeler, M. V., Lane, K., Mahalingaiah, S.. 2019-06-04. Identifying Women at Risk for Polycystic Ovary Syndrome Using a Mobile Health Application. https://doi.org/10.1101/659318

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

spatialMET: an open and scalable framework for spatial metabolomics analysis

Mass spectrometry imaging (MSI) enables spatially resolved metabolomics in intact tissue sections, but analysis remains challenging at scale. Existing MSI workflows often require users to combine multiple software tools, while others rely on proprietary vendor software that limits interoperability and reproducibility. To address these challenges, we developed spatialMET, an open-source framework that provides an end-to-end workflow for MSI analysis. spatialMET provides a unified platform for preprocessing, spatial domain detection, and visualization. Downstream analyses include differential abundance testing, spatial autocorrelation and gradient analysis, dimensionality reduction, and correlation network analysis. Spatial domain detection uses hcdist, a C-based hierarchical clustering implementation that substantially reduces runtime and memory use relative to existing R-based approaches. spatialMET can be run through an interactive R Shiny application or as a standalone command-line workflow for larger datasets or high-performance computing environments. Applied to mouse small cell lung cancer MALDI-MSI data containing 284,673 pixels, spatialMET identified tumor-associated, stromal, and adjacent lung spatial domains that aligned with matched histology. Differential abundance analysis identified 117 m/z features that differed between tumor and stromal regions, while spatial autocorrelation analyses revealed spatially structured abundance patterns. Applying spatialMET to mouse lung adenocarcinoma data from an entire lung lobe containing 338,477 pixels further demonstrated scalability and captured spatial heterogeneity across tumor and surrounding lung tissue. In summary, spatialMET provides a scalable, open-source framework for end-to-end spatial metabolomics analysis, and it is distributed as a Docker container for reproducible deployment. Source code and installation instructions are available at https://github.com/biodatalab/spatialMET.

bioinformatics

Probing the transcriptome response to shivering in skeletal muscle using a multilayered bioinformatics approach

Cold acclimation holds therapeutic potential for improving metabolic health. We previously demonstrated that repeated cold-induced shivering enhances insulin sensitivity in humans. However, the molecular pathways that underlie the skeletal muscle shivering response, and how these relate to beneficial physiological effects, remain poorly understood. In this study, we combined complementary bioinformatics approaches to allow in-depth analysis of the transcriptomic response of human skeletal muscle to repeated shivering. We identified a robust transcriptional signature and show a sex-specific component in the shivering skeletal muscle response, which seemed to diminish following cold adaptation. Our findings provide mechanistic insights into cold-induced muscle adaptations, shed light on potential interesting molecular targets for further investigation, and emphasize the importance of including both sexes in future cold acclimation studies.

bioinformatics

An Information Geometry approach to model topological trajectories and Gene Expression Radius from UMAP geometry.

Understanding the relationship between gene expression dynamics and cellular identity remains a central challenge in single cell biology. Here, we introduce a novel computational and mathematical framework that integrates information geometry, fuzzy topology, and UMAP analysis to model gene expression landscapes derived from single cell RNA sequencing data. We formalize gene expression data as a fuzzy topological space, where interactions between expression points are governed by probabilistic distributions inspired by manifold learning approaches such as UMAP. Within this framework, we define an information geometric structure through a Fisher metric induced by these distributions, enabling the computation of geodesic trajectories that capture cellular differentiation processes. A key contribution of this work is the derivation of analytical conditions, expressed as expression radius formulas, that characterize local neighborhoods in gene expression space. These conditions allow for the identification of genes associated with stem cell states and predictions in transitional cell types in future work. Application of the proposed framework to single cell datasets reveals biologically meaningful gene sets enriched in key regulatory pathways and transcription factors, demonstrating the capacity of our approach to uncover latent structure in complex gene expression data. Our results suggest that integrating differential geometry with statistical learning theory offers a powerful paradigm for modeling genotype and phenotype relationships and cellular state transitions, with potential implications for precision medicine and systems biology.

bioinformatics