medRxiv : the preprint server for health sciences最新文献

{"title":"Epidemiologic Method Review at Scale: Assessing Charlson Comorbidity Versioning Using a LLM.","authors":"Joshua T Fuchs, Cara Johnson, Nathan Foster, Peter J Leese","doi":"10.1101/2025.09.23.25336010","DOIUrl":"https://doi.org/10.1101/2025.09.23.25336010","url":null,"abstract":"<p><strong>Background: </strong>The Charlson Comorbidity Index (CCI) is widely used in epidemiologic studies. However, many versions of the CCI have been developed since the original method was published in 1987, and it is unclear which version is used most frequently and how version utilization in research has changed over time.</p><p><strong>Objective: </strong>We present an approach using a Large Language Model (LLM) to extract data from articles by detecting which specific CCI version is employed.</p><p><strong>Design: </strong>We designed a series of prompts that carefully guided the LLM through the identification and extraction of references used in the calculation of the CCI for each particular article. We used the Llama 3.3 70B Instruct model to identify and extract which references were used in the calculation of the CCI.</p><p><strong>Setting: </strong>We analyzed 31,767 articles published since 2012 to evaluate the landscape of CCI implementation. The articles were sourced from the PubMed Central Open Access subset.</p><p><strong>Measurements: </strong>For each article, we measured which version of the CCI was used, if any.</p><p><strong>Results: </strong>We show that 63% of articles that cite only a single method version cite only the original CCI publication, which cannot be applied in the modern real-world data era, leading to ambiguity about how the CCI is being calculated.</p><p><strong>Limitations: </strong>For articles that did not reference one of the CCI versions we searched for, we were unable to determine whether the paper used a different version, created a specific implementation for that paper, or is ambiguous about how the CCI was calculated.</p><p><strong>Conclusion: </strong>This paper introduces a generalizable approach to scaling methods literature review beyond what is typically possible by human-review, which we then validate and demonstrate the value of through application to the CCI.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Signal properties and stability of a chronically implanted endovascular brain computer interface.","authors":"Nikole Chetty, Kriti Kacker, Ariel K Feldman, Peter E Yoo, James Bennett, Adam Fry, Idan Tal, Nicholas F Hardy, Sadegh Ebrahimi, Cesar Echavarria, Abbey Sawyer, Hunter R Schone, Noam Y Harel, Raul G Nogueira, Shahram Majidi, Elad I Levy, Amit Kandel, Katharine Katya Hill, Nicholas L Opie, David Lacomis, Jennifer L Collinger, Thomas J Oxley, David F Putrino, Douglas J Weber","doi":"10.1101/2025.09.19.25335897","DOIUrl":"https://doi.org/10.1101/2025.09.19.25335897","url":null,"abstract":"<p><strong>Background: </strong>Implanted brain-computer interfaces (iBCIs) establish direct communication with the brain and hold the potential to enable people with severe disability to achieve control of digital devices, enabling communication and digital activities of daily living. The ability to access brain signals reliably and continuously over many years post-implantation is crucial for iBCIs to be effective and feasible. This study investigates the signal characteristics and long-term stability of neural activity recorded with a stent-electrode array over 1 year post-implant.</p><p><strong>Methods: </strong>We report on five participants with paralysis who were enrolled in an early feasibility clinical trial of an endovascular iBCI (Stentrode; ClinicalTrials.gov, NCT05035823 ). Each participant was implanted with a 16-channel stent-electrode array, deployed in the superior sagittal sinus to record bilaterally from the primary motor cortices. Neural activity was recorded during home-based sessions while the participants performed a set of standardized tasks. Metrics including motor signal strength during attempted movement, resting state signal features, and electrode impedances were quantified over time.</p><p><strong>Results: </strong>Motor-related modulation in neural activity was exhibited in the high-frequency bands (30-200 Hz) during attempted movements, with rest and attempted movement states showing sustained differentiation over time. Impedance and resting state band power for most channels did not change significantly over time.</p><p><strong>Conclusions: </strong>These findings provide strong evidence that the endovascular BCIs may be suitable for long-term neural signal acquisition in the home environment, demonstrating the ability to record movement-related modulation over one year.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145215132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motor Cortex Coverage Predicts Signal Strength of a Stentrode Endovascular Brain-Computer Interface.","authors":"Hunter R Schone, Peter Yoo, Adam Fry, Nikole Chetty, Abbey Sawyer, Cara Herbers, Fang Liu, Chan Hong Moon, Katya Hill, Shahram Majidi, Noam Y Harel, Raul G Nogueira, Elad Levy, David F Putrino, David Lacomis, Thomas J Oxley, Douglas J Weber, Jennifer L Collinger","doi":"10.1101/2025.09.19.25335875","DOIUrl":"https://doi.org/10.1101/2025.09.19.25335875","url":null,"abstract":"<p><p>Brain-computer interfaces (BCIs) are an emerging assistive technology for individuals with motor impairments, enabling the command of digital devices using neural signals. The Stentrode BCI is an implant, positioned within the brain's neurovasculature, that can record movement-related electrocortical activity. Over 5 years, 10 participants (8 amyotrophic lateral sclerosis, 1 primary lateral sclerosis, 1 brainstem stroke) have been implanted with a Stentrode BCI and significant inter-participant variability has been observed in the recorded motor signal strength. This variability warrants a critical investigation to characterize potential predictors of signal strength to promote more successful BCI control in future participants. Therefore, we investigated the relationship between Stentrode BCI motor signal strength and a variety of user-specific factors: (1) clinical status, (2) pre-implant functional activity, (3) peri-implant neuroanatomy, (4) peri-implant neurovasculature, and (5) Stentrode device integrity. Data from 10 implanted participants, including clinical demographics, pre- and post-implant neuroimaging and longitudinal Stentrode BCI motor signal assessments were acquired over a year. Across all potential predictors, the strongest predictor of Stentrode motor signal strength was the degree to which the Stentrode BCI's deployment position overlapped with primary motor cortex (M1). These findings highlight the importance of targeting M1 during device deployment and, more generally, provides a scientific framework for investigating the role of user-specific factors on BCI device outcomes.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Biomarkers for Passive Remote Monitoring of Bipolar Disorder: Systematic Review.","authors":"Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza","doi":"10.1101/2025.09.23.25336470","DOIUrl":"https://doi.org/10.1101/2025.09.23.25336470","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Bipolar disorder (BD) features episodic shifts among (hypo)mania, depression, mixed states, and euthymia. Timely detection of mood transitions is difficult due to infrequent clinical touchpoints. Digital health technologies, including wearables and smartphones, offer a unique opportunity to passively and continuously monitor behavior and physiology that could reflect underlying mood dynamics in real-world settings.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;We aim to systematically review passively collected digital biomarkers for BD mood states, characterize devices/modalities and analytic approaches, appraise risk of bias, and identify design gaps and priorities for clinical translation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Following PRISMA guidelines (PROSPERO CRD42024607765), we searched MEDLINE, PsycINFO, Scopus, IEEE Xplore, and ACM Digital Library (February 7, 2025). We included peer-reviewed studies of adults with BD I/II that measured passively collected digital biomarkers and related them to depressive, (hypo)manic, mixed, or euthymic states. Active-only measures (e.g. lab tests, ecological-momentary assessment) and studies entangling BD with other diagnoses were excluded. Two independent reviewers screened studies and extracted study characteristics and results. We grouped digital biomarkers into categories and conducted narrative synthesis. Risk of bias was assessed with PROBAST (predictive models) and the Newcastle-Ottawa Scale (observational studies).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of 8,355 records, 45 studies met criteria. Most enrolled ≤50 participants (64%) and monitored ≤100 days (49%); 29% collected data only in-clinic. Nine biomarker domains emerged: physical activity, heart rate (HR), electrodermal activity (EDA), geolocation, keyboard use, light exposure, sleep, socialization, and speech. Consistent patterns linked depression to reduced mobility and social interaction, later/variable sleep, and lower daytime light; (hypo)mania was associated with higher and more variable activity, shorter/advanced sleep, and increased communication. Circadian features derived from sleep/activity repeatedly aided prediction. EDA tended to be lower in depression; HRV findings were mixed across settings and methods. Keyboard and speech features (e.g., timing, prosody) showed associations and performed well in classifiers. Fifteen studies used ML; several reported strong performance for episode prediction/classification (AUROC ≈0.80-0.98 in larger cohorts), yet external validation was absent, samples were small, monitoring windows were often short relative to episode timescales, clinical labels were infrequent/misaligned, and missingness was rarely modeled despite likely informativeness.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Passive digital biomarkers for BD show promise, with the most robust signals aligning with DSM-5 behavioral and circadian features (sleep-wake patterns, activity/mobility, socialization/geolocation, and spee","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complications and Status Upgrades among Adult Heart Transplant Candidates with Durable LVADs: Waiting 6 to 8 Years for Status Escalation Is Too Long.","authors":"Daniel J Ahn, Antony Attia, Toshihiro Nakayama, Nikhil Narang, Kiran K Khush, William Parker, Kazunari Sasaki","doi":"10.1101/2025.09.22.25336215","DOIUrl":"10.1101/2025.09.22.25336215","url":null,"abstract":"<p><strong>Introduction: </strong>After the 2018 allocation policy change, the rate of listings and transplants with durable LVADs has decreased significantly in favor of bridging patients from temporary mechanical circulatory support to heart transplant. The Organ Procurement and Transplantation Network (OPTN) recently approved a policy, to be implemented in September 2026, stipulating that patients supported by durable LVADs for 6 and 8 years will obtain statuses 3 and 2, respectively.</p><p><strong>Methods: </strong>Using OPTN data, we identified all adult heart transplant candidates with a durable LVAD implanted between October 18, 2018 and May 31, 2025. We estimated the cumulative incidence of status upgrades and durable LVAD-related complications, treating transplantation and waitlist removal before experiencing complications as competing events. We also assessed how the composition of the adult heart transplant waitlist on June 1, 2025 would have changed based on the upcoming policy change.</p><p><strong>Results: </strong>During the study period, 3,881 adult patients were listed for heart transplant with a durable LVAD. 3,182 (82.0%) of the durable LVADs were Abbott HeartMate 3, 568 (14.6%) were Medtronic Heartware HVAD, and 91 (2.3%) were Abbott HeartMate II. Transplant centers submitted a total of 6,924 justifications for status upgrades due to LVAD-related complications (6.3% status 1, 34.3% status 2, and 59.4% status 3) for 1,500 (38.6%) of these patients, with a median of 3 per patient. The cumulative incidence of complications or status upgrades was 38.6% [95% CI (37.1%, 40.2%)]. Nearly all of the 2,381 patients who did not experience any complication or status upgrade during listing were removed from the waitlist by 6 years. Had the upcoming OPTN policy change been implemented on June 1, 2025, the proportion of the waitlist that would have achieved higher priority status instantaneously was 0.06%.</p><p><strong>Conclusions: </strong>The cumulative incidence of status upgrades and complications among heart transplant candidates with durable LVADs was nearly 40% within 6 years of device implantation. The upcoming OPTN policy to escalate patients to statuses 3 and 2 after 6 and 8 years of durable LVAD support, respectively, is unlikely to make a meaningful impact on waitlist priority status.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adaptive mobility responses during Hurricanes Helene and Milton in 2024.","authors":"Qing Yao, Victoria D Lynch, Molei Liu, Xiao Wu, Robbie M Parks, Sen Pei","doi":"10.1101/2025.07.02.25330752","DOIUrl":"10.1101/2025.07.02.25330752","url":null,"abstract":"<p><p>Adaptation is crucial for minimizing the societal impacts of tropical cyclones amid climate change. Using 3.56 billion high-resolution foot-traffic records from mobile devices, we analyzed human mobility patterns during Hurricanes Helene and Milton, which struck the southeastern United States in 2024. We observed marked differences in adaptive mobility responses across geographic regions with varying levels of historical hurricane exposure. Milton primarily impacted coastal areas with frequent hurricane exposure and prompted sharp increases in out-region travel prior to landfall and sustained elevated mobility in the post-disaster period. In contrast, Helene affected mostly inland areas, where mobility changes were modest and largely within natural variation. Within Helene-affected regions, coastal counties showed stronger mobility responses than inland counties. Our findings underscore the need for tailoring disaster preparedness and response strategies to the specific characteristics of affected populations.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144593326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antiprotozoal medications associated with increased longevity and reduced morbidity in two national cohorts.","authors":"Ariel Israel, Abraham Weizman, Sarah Israel, Shai Ashkenazi, Eytan Ruppin, Shlomo Vinker, Eli Magen, Eugene Merzon","doi":"10.1101/2025.07.01.25330644","DOIUrl":"10.1101/2025.07.01.25330644","url":null,"abstract":"<p><p>We conducted a stepwise pharmacoepidemiologic investigation to identify medications associated with longevity and aging-related morbidity. An exploratory medication-wide screen in a large national health system identified two antiprotozoals, atovaquone-proguanil and mefloquine, that were associated with increased survival. Matched exposed-unexposed cohorts were then constructed to validate mortality associations and examine incident outcomes, showing reduced risks for diabetes, dementia, cardiovascular, renal, hepatic, pulmonary, and selected cancers, alongside increased risks for hearing loss, dry eye/Sjögren's, and lichen planus. These findings were externally validated in the US TriNetX network, where the same patterns were observed for atovaquone-proguanil, mefloquine, and nirmatrelvir-ritonavir. Because nirmatrelvir-ritonavir is prescribed to older, multimorbid individuals with COVID-19, its associations are unlikely to reflect healthy traveler bias. The concordant protective and tissue-specific adverse associations across datasets and antiprotozoal drug classes support a testable mechanistic hypothesis: short antiprotozoal courses may mitigate aging-related morbidity, plausibly by reducing protozoal burden, such as <i>Toxoplasma gondii</i> .</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating Prehabilitation into Surgical Pathways: Current Modalities, Outcomes, and Research Gaps.","authors":"Eric Sosa, Anabel Henick, Dhanesh D Binda, Crystal Joseph, Stanley Kim, Dave Mathew, Singh Nair, Jinu Kim, David C Adams, Karina Gritsenko, Naum Shaparin","doi":"10.1101/2025.09.23.25336233","DOIUrl":"https://doi.org/10.1101/2025.09.23.25336233","url":null,"abstract":"<p><strong>Background: </strong>Prehabilitation constitutes a multidisciplinary strategy aimed at optimizing patients' physiological and psychological status prior to surgery, with the objective of improving postoperative outcomes and long-term quality of life. Interventions commonly include structured exercise programs, nutritional optimization, respiratory muscle training, and psychosocial support. This narrative review synthesizes the expanding body of evidence on prehabilitation, with particular emphasis on the implementation of diverse modalities, their impact on surgical outcomes, and the persisting gaps in knowledge that warrant further investigation.</p><p><strong>Methods: </strong>A systematic PubMed search was performed on June 25, 2025, using the terms \"Prehabilitation AND Anesthesia,\" \"Prehabilitation AND Surgery,\" \"Prehabilitation AND Preoperative Medicine,\" and \"Prehabilitation.\" Extracted data included article title, year of publication, surgical specialty, procedure type, study design, prehabilitation modality, number of modalities, regimen duration, demographic characteristics, loss to follow-up, cancer status or receipt of neoadjuvant chemotherapy, study outcomes, data collection methods, and study conclusions. Systematic reviews, meta-analyses, protocol descriptions, and feasibility studies without reported results were excluded from the final analysis.</p><p><strong>Results: </strong>The search strategy identified 796 articles, 76% of which were published between 2017 and 2025. A total of 153 studies met inclusion criteria for analysis. The most frequently represented surgical specialties were general surgery (43%), orthopedic surgery (21%), and cardiothoracic surgery (18%). Single-modality prehabilitation was reported in 43% of studies, whereas multimodal approaches varied by specialty, occurring in 36% of general surgery studies and 13% of cardiothoracic surgery studies. Five principal prehabilitation modalities were identified: exercise, nutrition, psychological intervention, substance cessation, and medical optimization. Exercise-based interventions were the most common, incorporated in 84.7% of studies, followed by nutritional interventions in 29.5%. Overall, 82% of included studies reported statistically significant improvements in surgical outcomes associated with prehabilitation.</p><p><strong>Conclusion: </strong>Most studies included in this review demonstrated a significant positive impact of prehabilitation on surgical outcomes. Nonetheless, most investigations employed a single prehabilitation modality, underscoring the need to further assess the effectiveness of multimodal strategies. Furthermore, the existing evidence is concentrated within a limited number of surgical specialties, highlighting the necessity for well-designed studies across a broader spectrum of surgical disciplines.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145215077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inter-professional mentor teams (IP-MT) and systems analysis and improvement approach (SAIA) for elimination of mother-to-child transmission of HIV (eMTCT) at University affiliated teaching and referral hospitals in Kenya.","authors":"Ruth Nduati, George Wanje, Emmah Matheka, Ruth Emboyoga, Paul Nduati, Dalton Wamalwa","doi":"10.1101/2025.09.22.25336422","DOIUrl":"https://doi.org/10.1101/2025.09.22.25336422","url":null,"abstract":"<p><p>Elimination of mother-to child transmission (eMTCT) of HIV is a complex cascade of interventions longitudinally administered during pregnancy, delivery and after, until the baby is no longer at risk of infection. Systems Analysis and Improvement Approach (SAIA) an institutional implementation strategy that packages systems engineering tools have in clinical trial setting been shown to effectively optimize performance. This study evaluated feasibility of institutionalizing inter-professional mentoring teams (IP-MT) that utilize SAIA for strengthening delivery of eMTCT services at referral and teaching hospitals affiliated to the Faculties of Health sciences. Nurse midwives drawn from 15 referral and teaching hospitals affiliated to faculties of Health Sciences of 4 Universities in Kenya and who were trained on SAIA were tasked to mobilize fellow colleagues to build IP-MT to support eMTCT within their hospital following additional 2-day online SAIA training and follow-up mentorship as needed. In the current training 71 health workers of different cadres were trained. Retention of trained personnel was 37.5% and 92.9% for the first and second cohort respectively. Nine facilities established the IP-MT but only one hospital had participation of a consultant doctor. Eight hospitals were able to analyze their facility performance for the period preceding the training using the PMCT cascade analysis tool (P-CAT). Two-thirds of expected pregnant women booked into care. Four of the eight hospitals had consistent fidelity across all components of the eMTCT service. Two hospitals failed to provide anti-retroviral drugs to 50% of eligible women. Timely early infant diagnosis occurred in 271 (92.5%) of the 293 identified HIV exposed infants. Teaching and referral hospitals affiliated to University health professions schools offer opportunity for interprofessional collaboration and opportunity to improve the quality of eMTCT services. Collation of the P-CAT findings helped identify common program gaps and facility specific deficiency in delivery of eMTCT.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A genomic study of trichotillomania and excoriation disorder in families.","authors":"Samantha R Greenspun, Isabella Milanes, Luis C Farhat, Sarah Abdallah, Diana Bok, Doris Chen, Wenzhong Liu, Enock Teefe, Michael H Bloch, Thomas V Fernandez, Emily Olfson","doi":"10.1101/2025.09.19.25335566","DOIUrl":"https://doi.org/10.1101/2025.09.19.25335566","url":null,"abstract":"<p><p>Trichotillomania and excoriation disorder are obsessive-compulsive related disorders that are often subclassified together as body-focused repetitive behavior (BFRB) disorders. While previous research suggests shared genetic factors, the genetic architecture of these BFRBs remains incompletely understood. Probands with trichotillomania and/or excoriation disorder and both of their biological parents were recruited for an ongoing genetic study of parent-offspring trios with BFRBs. Genome-wide array data were generated in 110 families (334 individuals total) to investigate the role of both common single-nucleotide polymorphisms and rare copy-number variants (CNVs). Polygenic risk scores were calculated using summary statistics from genome-wide association studies of related psychiatric conditions, including obsessive-compulsive disorder (OCD), depression, anxiety, and attention deficit/hyperactivity disorder. Using the polygenic transmission disequilibrium test, we observed a significant over-transmission of polygenic risk for OCD in probands of European ancestry from their parents (mean pTDT = 0.36, <i>p</i> = 0.01, n = 92), and a non-significant enrichment for the other conditions. Our results suggest that common variants associated with OCD may contribute to risk for BFRBs, consistent with their current classification as obsessive-compulsive related disorders. We also identified several rare CNVs in probands that overlapped genes intolerant to loss-of-function (LoF) mutations and those previously associated with neurodevelopmental disorders. The LoF-intolerant genes were enriched in biological processes relevant to synapse organization and neurodevelopment. This work provides new insight into the genetic underpinnings of these BFRB disorders, paving the way for larger genomic studies of these understudied conditions.</p>","PeriodicalId":94281,"journal":{"name":"medRxiv : the preprint server for health sciences","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145214777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}