6289 research outputs found
Sort by
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact
No full textNeurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding de novo variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals. Predicted impact was compared between participants with CHD and a jointly called cohort without CHD. We then assessed the relationship of the predicted impact of ncDNVs with their sulcal folding patterns. ncDNVs predicted to increase H3K9me2 modification were associated with larger disruptions in right parietal sulcal patterns in the CHD cohort. Genes predicted to be regulated by these ncDNVs were enriched for functions related to neuronal development. This highlights the potential of deep learning models to generate hypotheses about the role of noncoding variants in brain development
Comparison of Lysis and Amplification Methodologies for Optimal 16S rRNA Gene Profiling for Human and Mouse Microbiome Studies
No full textWhen conducting sequence-based analysis of microbiome samples, it is important to accurately represent the bacterial communities present. The aim of this study was to compare two commercially available DNA isolation and PCR amplification approaches to determine their impact on the taxonomic composition of microbiome samples following 16S rRNA gene sequencing. A well-established 16S rRNA gene profiling approach, which was widely used in the Human Microbiome Project (HMP), was compared with a novel alkaline degenerative technique that utilizes alkaline cell lysis in combination with a degenerate pool of primers for nucleic acid extraction and PCR amplification. When comparing these different approaches for the microbiome profiling of human and mouse fecal samples, we found that the alkaline-based method was able to detect greater taxonomic diversity. An in silico analysis of predicted primer binding against a curated 16S rRNA gene reference database further suggested that this novel approach had the potential to reduce population bias found with traditional methods, thereby offering opportunities for improved microbial community profiling
Outpatient Care for Bronchopulmonary Dysplasia
No full textDate of Presentation: January 16th, 2025
Presented by: Ina St. Onge, DO, Pediatric Pulmonologist, MaineHealth Maine Medical Center
CME available for 1 year after presentation
CME Text Code: 97002https://knowledgeconnection.mainehealth.org/pediatrics_gr/1060/thumbnail.jp
February 5th, 2025: Updates on Valvular Heard Disease
No full texthttps://knowledgeconnection.mainehealth.org/medicine_gr/1035/thumbnail.jp
A Hot Topic: Standardization of Fire Safety Training in Perioperative Areas
Get PDFIntroduction: Fires in perioperative areas, while rare, are considered high-risk events. Up to 650 fires occur in the operating room annually in the United States with head and neck procedures having the highest rate of injury and mortality
Morphometric vertebral fractures at hospitalization associate with Long COVID occurrence
No full textPURPOSE: Long COVID is a multisystemic syndrome leading to significant morbidity. To date, a comprehensive characterization of underlying risk factors is still being defined. Osteoporosis and vertebral fractures (VFs) were associated with worse acute COVID-19 and impaired respiratory recovery after hospitalization. Therefore, we aimed to assess the potential relationship between VFs and the occurrence of the Long COVID syndrome. METHODS: Patients hospitalized for acute COVID-19 and subsequently seen in our outpatient follow-up clinic 6-months after discharge were evaluated. We retrospectively included patients with available lateral chest X-rays performed at admission suitable for VFs assessments. We excluded patients with active neoplasia, and those managed at home or those hospitalized in ICU. Long COVID was diagnosed with a multidisciplinary evaluation. RESULTS: One-hundred sixty-two patients were included in the study. At least one VF was found in 42 patients at presentation (25.9%). Patients with VFs were significantly older and predominantly males. Long COVID was diagnosed in 25 patients (15.4%). No differences were found between patients with and without Long COVID regarding demographics and comorbidities; however, those with Long COVID were characterized by a higher prevalence of VFs at time of hospitalization for acute COVID-19 (48% vs. 22%, p = 0.01). After matching patients with and without VFs in a 1:1 ratio for demographics, comorbidities, and COVID-19 severity, a total of 84 patients were analysed and those presenting VFs were characterized by a significant higher prevalence of Long COVID (28.6% vs. 9.5%, p = 0.04) and VFs resulted as the only significant independent risk factor for Long COVID occurrence. CONCLUSIONS: We observed that prevalent VFs detected at hospital admission were distinctive clinical features of patients presenting with Long COVID 6-months after discharge, independently from acute disease severity and other confounding factors. This highlights a potential detrimental association between skeletal fragility and the development of Long COVID
Aging alters the effect of adiponectin receptor signaling on bone marrow-derived mesenchymal stem cells
No full textAdiponectin receptor signaling represents a promising therapeutic target for age-related conditions such as osteoporosis and diabetes. However, the literature presents conflicting evidence regarding the role of adiponectin signaling in bone homeostasis and fracture repair across different health states, ages, and disease conditions. These inconsistencies may arise from the complex endocrine and paracrine feedback mechanisms regulating adiponectin, as well as the variability in adiponectin isoforms and receptor expressions. In this study, we observed differential expression of adiponectin receptors in the bone marrow (BM) of aged mice, characterized by elevated levels of adiponectin receptor 2 and reduced levels of receptor 1, as corroborated by both single-cell sequencing and in vivo staining. Additionally, circulating levels of adiponectin and its local expression were significantly higher in aged mice compared to younger counterparts. Treatment with adiponectin receptor agonist, AdipoRon, enhanced bone regeneration and repair in young mice by promoting osteogenesis and reducing osteoclastogenesis. Conversely, in aged mice, AdipoRon treatment led to cellular senescence, delayed bone repair, and inhibited osteogenic activity. Notably, the adiponectin receptor 1-Wnt and adiponectin receptor 2-MAPK and mTOR signaling pathways were differentially activated in AdipoRon-treated BM mesenchymal stem cells from young and aged mice. Additionally, the NF-κB, and AKT pathways were consistently downregulated in BM macrophages of both age groups following AdipoRon administration. In conclusion, aging significantly modulates the impact of adiponectin receptor signaling on BM mesenchymal stem cells. This modulation is potentially attributable to changes in receptor transcription and distribution, as well as differential activation of downstream signaling pathways
July 25th, 2025: Improving Health Through Community and Practice Engagement
No full texthttps://knowledgeconnection.mainehealth.org/medicine_gr/1045/thumbnail.jp
Delirium in Intubated Adult ICU Patients
Get PDFPICOT Question: In intubated adult ICU patients, does sedation with Dexmedetomidine compared to Propofol reduce the incidence of hospital acquired delirium during the ICU stay?https://knowledgeconnection.mainehealth.org/nurseresidency/1123/thumbnail.jp
Glucometer Cleanliness on a Neuro-Medical Intensive Care Unit
Get PDFGlucometers on the Neuro-Medical ICU are being docked with visible reddish/brown residue, indicating they are not properly cleaned beforehand. This poses a risk of transmitting pathogens, endangering patient and staff safety, and violates hospital policy and regulatory standards. Proper disinfection of mobile medical equipment is essential for infection control and hospital accreditation