Jacobs Institute of Women's Health
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Sex-specific effects of prenatal bisphenol A exposure on transcriptome-interactome profiles of autism candidate genes in neural stem cells from offspring hippocampus
No full textBisphenol A (BPA), an endocrine-disrupting chemical, is increasingly linked to the pathogenesis of autism spectrum disorder (ASD). This study investigates the effects of prenatal BPA exposure on neural stem cells (NSCs) from the hippocampi of rat offspring, a brain region critical for neurodevelopment and implicated in ASD. Pregnant rats were administered with BPA or vehicle control once daily via oral gavage from gestational day 1 until parturition. NSCs were isolated from the offspring\u27s hippocampi on postnatal day 1, and RNA sequencing was performed to examine transcriptomic alterations. Differentially expressed genes (DEGs) were identified through RNA-seq and further analyzed using Ingenuity Pathway Analysis (IPA) to explore disrupted pathways. In addition, in vitro proliferation assays were conducted, utilizing immunofluorescence staining for Sox2, a stem cell marker, and BrdU to quantify proliferating NSCs. Our results revealed that prenatal BPA exposure induced sex-specific alterations in NSC gene expression, with ASD-related genes such as Atp1a3, Nefl, and Grin1 being particularly dysregulated in male offspring. Moreover, sex-specific changes in NSC proliferation were observed. The study underscores BPA\u27s potential as an environmental risk factor for ASD, emphasizing the need for further research into its role in sex-specific neurodevelopmental effects
An image dataset for surveillance of personal protective equipment adherence in healthcare
No full textProper personal protective equipment (PPE) use is critical to prevent disease transmission to healthcare providers, especially those treating patients with a high infection risk. To address the challenge of monitoring PPE usage in healthcare, computer vision has been evaluated for tracking adherence. Existing datasets for this purpose, however, lack a diversity of PPE and nonadherence classes, represent single not multiple providers, and do not depict dynamic provider movement during patient care. We introduce the Resuscitation Room Personal Protective Equipment (R2PPE) dataset that bridges this gap by providing a realistic portrayal of diverse PPE use by multiple interacting individuals in a healthcare setting. This dataset contains 26 videos, 10,034 images and 123,751 bounding box annotations for 17 classes of PPE adherence and nonadherence for eyewear, masks, gowns, and gloves, and one additional head class. Evaluations using newly proposed metrics confirm R2PPE exhibits higher annotation density than three established general-purpose and medical PPE datasets. The R2PPE dataset provides a resource for developing computer vision algorithms for monitoring PPE use in healthcare
Skeletal Maturity Might Not Be a Factor in Optimizing Outcomes in Total Hip Arthroplasty
No full textIntroduction Total hip arthroplasty (THA) is rarely indicated in the skeletally immature population. In these instances, there is concern for implant survival compared to the traditional older population. There has been a steady rise in the use of THA in the pediatric population due to improvements in surgical techniques. While the outcomes in THA for skeletally immature patients have been described in the literature, there are no population studies looking at this procedure in a skeletally immature individual. Therefore, the purpose of this study was to compare 10-year implant survivability following primary THA in skeletally mature versus skeletally immature patients. Methods Patients who underwent primary THA were identified using a large national database (PearlDiver). THA patients were then divided into presumed skeletally immature male patients (0-16 years), presumed skeletally mature male patients (17-21 years), presumed skeletally immature females (0-14 years), and presumed skeletally mature females (15-21 years). Multivariable analysis was conducted using Cox proportional hazards modeling to determine differences in the risk of revision for periprosthetic joint infection (PJI), mechanical loosening, dislocation/instability, and periprosthetic fracture (PPF). Results In total, 352 male patients (244 skeletally mature and 108 skeletally immature) and 409 female patients (350 skeletally mature and 59 skeletally immature) were identified. Compared to skeletally immature females, skeletally mature females had no higher risk of 10-year revision for all-cause, PJI, mechanical loosening, dislocation/instability, or PPF (P \u3e 0.05 for all). Compared to skeletally immature males, skeletally mature males had no higher risk of 10-year revision for all-cause, PJI, mechanical loosening, dislocation/instability, or PPF (P \u3e 0.05 for all). Conclusion Although THA occurred more commonly in patients above the presumed age of skeletal maturity, the lack of significantly different surgical outcomes suggests that younger age and presumed skeletal immaturity may not put patients at any further risk of implant failure. While further research is needed to understand the impact of age and skeletal maturity on outcomes of THA, these results indicate that the initial age of a THA may not be a factor in optimizing outcomes, and suggests that orthopedic surgeons need not delay surgery based on age or skeletal maturity alone
Utilization of Telemedicine for Patients Receiving In-center Hemodialysis in the United States
No full textBACKGROUND: In March 2020, responding to the COVID-19 pandemic, federal emergency waivers in the United States enabled kidney care providers (nephrologists and advanced practice providers) to substitute face-to-face in-center hemodialysis visits with telemedicine encounters. We examined whether the frequency of kidney care provider visits and hospitalizations were associated with telemedicine use in hemodialysis care. METHODS: We used Medicare claims to identify US patients receiving in-center hemodialysis during the first 16 months of the COVID-19 pandemic. We examined the association between telemedicine use during in-center hemodialysis, the frequency with which kidney care providers visited patients at dialysis four-or-more times per month, and hospitalizations. We also examined whether the association between telemedicine use and visit frequency varied at facilities located in more remote areas. Multivariable regression models adjusted for patient, physician, geographic and dialysis facility characteristics along with the frequency with which kidney care providers saw patients at each facility before the pandemic. We focused on kidney care providers who demonstrated knowledge of how to bill for telemedicine visits by using the telemedicine modifier on prior claims. RESULTS: We identified 1,881 providers who saw patients between 3/2020-6/2021 and were definitively using telemedicine. In the adjusted model, a 35% absolute higher use of telemedicine at a facility (representing one standard deviation difference) was associated with a 1.4% higher rate of four-or-more visits (Incidence Rate Ratio (IRR) 1.014; 95% Confidence Interval 1.007-1.022). The association between telemedicine use and visit frequency was stronger where travel distances to facilities were farther (interaction p=0.01). There was no significant association between telemedicine use and hospitalizations. CONCLUSIONS: The use of telemedicine to care for patients receiving in-center hemodialysis was associated with a slightly higher frequency of four-or-more visits per month but not with hospitalizations; the association with visit frequency was more pronounced in areas where providers had to travel longer distances to see patients in-person
Screening for Osteoporosis to Prevent Fractures: US Preventive Services Task Force Recommendation Statement
No full textIMPORTANCE: Osteoporotic fractures are associated with psychological distress, subsequent fractures, loss of independence, reduced ability to perform activities of daily living, and death. OBJECTIVE: The US Preventive Services Task Force (USPSTF) commissioned a systematic review to evaluate the evidence on the benefits and harms of screening for osteoporosis to prevent fractures in adults 40 years or older with no known diagnosis of osteoporosis or history of fragility fracture. POPULATION: Adults 40 years or older without known osteoporosis or history of fragility fractures. EVIDENCE ASSESSMENT: The USPSTF concludes with moderate certainty that screening for osteoporosis to prevent osteoporotic fractures in women 65 years or older has moderate net benefit. The USPSTF concludes with moderate certainty that screening for osteoporosis to prevent osteoporotic fractures in postmenopausal women younger than 65 years at increased risk has moderate net benefit. The USPSTF concludes that the evidence is insufficient and the balance of benefits and harms for screening for osteoporosis to prevent osteoporotic fractures in men cannot be determined. RECOMMENDATION: The USPSTF recommends screening for osteoporosis to prevent osteoporotic fractures in women 65 years or older. (B recommendation) The USPSTF recommends screening for osteoporosis to prevent osteoporotic fractures in postmenopausal women younger than 65 years who are at increased risk for an osteoporotic fracture as estimated by clinical risk assessment. (B recommendation) The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for osteoporosis to prevent osteoporotic fractures in men. (I statement)
Topical Trametinib for Agminated Spitz Nevi Harboring HRAS Mutation
No full textThe treatment of agminated Spitz nevi can be challenging due to the potential for disfigurement in cosmetically sensitive areas. We report the case of a pediatric patient with progressive agminated Spitz nevi arising from a nevus spilus on the face with an associated pathogenic HRAS p.G13R mutation revealed on next-generation sequencing (NGS). The patient was treated with compounded topical trametinib 1% cream and demonstrated significant clinical improvement following 12 weeks of twice-daily treatment. Our case highlights the potential role of MEK inhibition as a targeted, non-surgical treatment for HRAS-mutated agminated Spitz nevi and adds to the growing understanding of their genetic etiology
Child and Adult Seborrheic Dermatitis: A Narrative Review of the Current Treatment Landscape
No full textINTRODUCTION: Seborrheic dermatitis (SD) is a common, chronic inflammatory skin condition affecting sebaceous gland-rich areas of the skin. The multifactorial etiology of SD involves sebocyte activity, skin microbiome dysbiosis, and immune factors. Various treatment options exist for management of SD. METHODS: A PubMed search conducted on November 1, 2024 using the terms seborrheic dermatitis and treatment (restricted to 2019-2024) yielded 389 results, from which relevant papers and additional references were included in this review. DISCUSSION: Topical antifungals, topical corticosteroids, and topical calcineurin inhibitors are first-line treatments for SD; however, long-term use of each of these may be limited by varying side effects. Roflumilast foam is a newly approved topical with potential to become a first-line treatment. Myriad systemic treatments exist as second- and third-line treatments for cases of moderate-to-severe and/or recalcitrant SD. Procedural interventions of varying efficacy exist. CONCLUSIONS: The treatment of SD requires an individualized approach, utilizing a range of topical, systemic, and procedural interventions. The advent of new treatments like roflumilast foam offers novel, well-tolerated, and safer options than what has been available in the past
Machine learning of clinical phenotypes facilitates autism screening and identifies novel subgroups with distinct transcriptomic profiles
No full textAutism spectrum disorder (ASD) presents significant challenges in diagnosis and intervention due to its diverse clinical manifestations and underlying biological complexity. This study explored machine learning approaches to enhance ASD screening accuracy and identify meaningful subtypes using clinical assessments from AGRE database integrated with molecular data from GSE15402. Analysis of ADI-R scores from a large cohort of 2794 individuals demonstrated that deep learning models could achieve exceptional screening accuracy of 95.23% (CI 94.32-95.99%). Notably, comparable performance was maintained using a streamlined set of just 27 ADI-R sub-items, suggesting potential for more efficient diagnostic tools. Clustering analyses revealed three distinct subgroups identifiable through both clinical symptoms and gene expression patterns. When ASD were grouped based on clinical features, stronger associations emerged between symptoms and underlying molecular profiles compared to grouping based on gene expression alone. These findings suggest that starting with detailed clinical observations may be more effective for identifying biologically meaningful ASD subtypes than beginning with molecular data. This integrated approach combining clinical and molecular data through machine learning offers promising directions for developing more precise screening methods and personalized intervention strategies for individuals with ASD
Development of a neural network model for early detection of creatinine change in critically Ill children
No full textINTRODUCTION: Renal dysfunction is common in critically ill children and increases morbidity and mortality risk. Diagnosis and management of renal dysfunction relies on creatinine, a delayed marker of renal injury. We aimed to develop and validate a machine learning model using routinely collected clinical data to predict 24-hour creatinine change in critically ill children before change is observed clinically. METHODS: Retrospective cohort study of 39,932 pediatric intensive care unit encounters in a national multicenter database from 2007 to 2022. A neural network was trained to predict \u3c50% or ≥50% creatinine change in the next 24 h. Admission demographics, routinely measured vital signs, laboratory tests, and medication use variables were used as predictors for the model. Data set was randomly split at the encounter level into model development (80%) and test (20%) sets. Performance and clinical relevance was assessed in the test set by accuracy of prediction classification and confusion matrix metrics. RESULTS: The cohort had a male predominance (53.8%), median age of 8.0 years (IQR 1.9-14.6), 21.0% incidence of acute kidney injury, and 2.3% mortality. The overall accuracy of the model for predicting change of \u3c50% or ≥50% was 68.1% (95% CI 67.6%-68.7%). The accuracy of classification improved substantially with higher creatinine values from 29.9% (CI 28.9%-31.0%) in pairs with an admission creatinine \u3c0.3 mg/dl to 90.0-96.3% in pairs with an admission creatinine of ≥0.6 mg/dl. The model had a negative predictive value of 97.2% and a positive predictive value of 7.1%. The number needed to evaluate to detect one true change ≥50% was 14. DISCUSSION: 24-hour creatinine change consistent with acute kidney injury can be predicted using routine clinical data in a machine learning model, indicating risk of significant renal dysfunction before it is measured clinically. Positive predictive performance is limited by clinical reliance on creatinine
Targets of the transcription factor Six1 identify previously unreported candidate deafness genes
No full textBranchio-otic (BOS) and branchio-oto-renal (BOR) syndromes are autosomal dominant disorders featuring multiple birth defects including ear, renal and branchial malformations. Mutations in the homeodomain transcription factor SIX1 and its co-factor EYA1 have been identified in about 50% of individuals with BOS or BOR, while causative mutations are unknown in the other half. We hypothesise that SIX1 target genes represent new BOS and BOR candidates. Using published transcriptomic and epigenomic data from chick ear progenitors, we first identify putative Six1 targets. Next, we provide evidence that Six1 directly regulates some of these candidates: Six1 binds to their enhancers, and functional experiments in Xenopus and chick confirm that Six1 controls their expression. Finally, we show that most putative chick Six1 targets are also expressed in the human developing ear and are associated with known deafness loci. Together, our results not only characterise the molecular mechanisms that mediate Six1 function in the developing ear, but also provide new candidates for human congenital deafness