Rhabdomyosarcoma (RMS) is a family of phenotypically myogenic paediatric cancers consisting of two major subtypes: fusion-positive (FP) RMS, most commonly involving the PAX3::FOXO1 fusion gene, formed by the fusion of paired box 3 (PAX3) and forkhead box O1 (FOXO1) genes, and fusion-negative (FN) RMS, lacking these gene fusions. In humans, DNA methylation patterns distinguish these two subtypes as well as mutation-associated subsets within these subtypes. To investigate the biological factors responsible for these methylation differences, we profiled DNA methylation in RMS tumours derived from genetically engineered mouse models (GEMMs) in which various driver mutations were introduced into different myogenic lineages.
View Article and Find Full Text PDFTranscranial magnetic stimulation combined with intracranial local field potential recordings in humans (TMS-iEEG) represents a new method for investigating electrophysiologic effects of TMS with spatiotemporal precision. We applied TMS-iEEG to the dorsolateral prefrontal cortex (dlPFC) in two subjects and demonstrate evoked activity in the subgenual anterior cingulate cortex (sgACC). This study provides direct electrophysiologic evidence that dlPFC TMS, as targeted for depression treatment, can modulate brain activity in the sgACC.
View Article and Find Full Text PDFObjectives: There is a burgeoning discrepancy between the procedural competency of graduating diagnostic radiology residents and the needs of our patient population. The causes of this mismatch and opportunities for improvement are explored by the APDR Procedural Competency of Graduating DR Residents Task Force.
Materials And Methods: The APDR convened a task force consisting of diverse broad stakeholder viewpoints, drawing from organized radiology, academic and private practices.
How specific enhancer-promoter pairing is established remains mostly unclear. Besides the CTCF/cohesin machinery, few nuclear factors have been studied for a direct role in physically connecting regulatory elements. Using a murine erythroid cell model, we show via acute degradation experiments that LDB1 directly and broadly promotes connectivity among regulatory elements.
View Article and Find Full Text PDFEarth's topography and climate result from the competition between uplift and erosion, but it has been debated whether rivers or glaciers are more effective erosional agents. We present a global compilation of fluvial and glacial erosion rates alongside simple numerical experiments, which show that the "Sadler effect," wherein geological rates show an inverse relationship with measurement timescale, comprises three distinct effects: a measurement thickness bias, a bias of erosion and redeposition, and a bias introduced by not observing quiescent intervals. Furthermore, we find that, globally, average glacial erosion rates exceed fluvial erosion rates through time by an order of magnitude, and that this difference cannot be explained by Sadlerian biases or by variations in hillslope, precipitation, or latitude.
View Article and Find Full Text PDFObjectives: To implement, examine the feasibility of, and evaluate the performance of quantitative ultrasound (QUS) with a handheld point-of-care US (POCUS) device for assessing liver fat in adults.
Materials And Methods: This prospective IRB-approved, HIPAA-compliant pilot study enrolled adults with overweight or obesity. Participants underwent chemical-shift-encoded magnetic resonance imaging to estimate proton density fat fraction (PDFF) and, within 1 mo, QUS with a POCUS device by expert sonographers and novice operators (no prior US scanning experience).
Among the developmental milestones related to language and communication in early childhood, one that has been the subject of considerable research is response to name (RTN). Delayed or absent RTN in early childhood is a diagnostic marker for autism spectrum disorder and a target behavior in many early intervention curricula. This article describes two related studies.
View Article and Find Full Text PDFPurpose: The monoacylglycerol lipase (MAGL) plays a pivotal role in modulating the endocannabinoid system and is considered an attractive therapeutic target for diseases in both the central nervous system and periphery. The current study aimed to develop and evaluate a suitable carbon-11 labeled tracer for imaging MAGL in preclinical studies.
Methods: (R)-YH168 was synthesized via a multi-step pathway and its half-maximal inhibitory concentration (IC) values were measured using an enzymatic assay.
Laryngoscope Investig Otolaryngol
December 2024
Objective: In this study, we aimed to evaluate mir-31-5p as a prognostic biomarker of keloid disease (KD) recurrence using a retrospective, treatment naïve, surgical cohort of head and neck KD cases from Henry Ford Health.
Methods: Using a tissue microarray, mir-31-5p expression was measured with miRNAscope, and mir-31-5p cell positivity was determined with QuPath. Logistic regression was used to test the association between mir-31-5p positive cells and KD recurrence at 1 year.
Transcranial magnetic stimulation (TMS) applied to the motor cortex has revolutionized the study of motor physiology in humans. Despite this, TMS-evoked electrophysiological responses show significant variability, due in part to inconsistencies between TMS pulse timing and ongoing brain oscillations. Variable responses to TMS limit mechanistic insights and clinical efficacy, necessitating the development of methods to precisely coordinate the timing of TMS pulses to the phase of relevant oscillatory activity.
View Article and Find Full Text PDFAdaptive changes in organ size and physiology occur in most adult animals, but how these changes are regulated is not well understood. Previous research found that mating in females drives not only increases in gut size and stem cell proliferation but also alters feeding behavior, intestinal gene expression, and whole-body lipid storage, suggesting altered gut metabolism. Here, we show that mating dramatically alters female gut metabolism and digestive function.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
January 2025
Background And Objectives: Biologics that target pathogenic antibodies (Abs) and their effector functions such as the complement inhibitor ravulizumab and the neonatal Fc receptor agonist efgartigimod have recently been approved for the treatment of acetylcholine receptor (AChR)-Ab-positive myasthenia gravis (MG), but comparative studies are lacking.
Methods: In a prospective, exploratory real-world study, we assessed clinical efficacy, safety, and biological effects of ravulizumab and efgartigimod treatment initiation. Myasthenia Gravis-Activities of Daily Living and Quantitative Myasthenia Gravis scores were used as clinical endpoints.
In post-liver transplant patients, esophagitis presents a diagnostic and management challenge due to the potential for opportunistic infections. This case describes a 59-year-old female with primary sclerosing cholangitis who underwent orthotopic liver transplantation six years prior. She presented with dysphagia, and her medical history included immunosuppression with prednisone, tacrolimus, and mycophenolate and a history of achalasia treated with esophageal peroral endoscopic myotomy.
View Article and Find Full Text PDFVolume Bragg gratings are a useful tool for spectral manipulation in a variety of settings. In a previous paper [Astron. & Astrophys.
View Article and Find Full Text PDFNon-invasive follicular thyroid neoplasm with papillary like nuclear features (NIFTP) was introduced in 2017 WHO Classification of Endocrine Tumors. In this study, we aim to characterize the molecular and ultrasonographic profiles of NIFTP and evaluate the performance of fine needle aspiration (FNA) cytology. Consecutive thyroid resections at our institution between 2018 and 2022 were collected; 1282 thyroid resections were identified.
View Article and Find Full Text PDFIntroduction And Hypothesis: The incidence of obstetric anal sphincter injuries (OASI) has increased in recent years, which may be due to improved recognition and documentation. There is limited evidence regarding the effects of thorough documentation of obstetric anal sphincter injury repairs on postpartum clinical outcomes. Our objectives were to (1) compare the incidence of perineal wound complications between documentation groups, (2) compare other adverse events, and (3) to describe factors associated with adequate documentation.
View Article and Find Full Text PDFYeast Def1 mediates RNA polymerase II degradation and transcription elongation during stress. Def1 is predominantly cytoplasmic, and DNA damage signals cause its proteolytic processing, liberating its N-terminus to enter the nucleus. Cytoplasmic functions for this abundant protein have not been identified.
View Article and Find Full Text PDFBackground: Major depressive disorder (MDD) is a prevalent psychiatric disorder characterized by substantial clinical and neurobiological heterogeneity. Conventional studies that solely focus on clinical symptoms or neuroimaging metrics often fail to capture the intricate relationship between these modalities, limiting their ability to disentangle the complexity in MDD. Moreover, patient neuroimaging data typically contains normal sources of variance shared with healthy controls, which can obscure disorder-specific variance and complicate the delineation of disease heterogeneity.
View Article and Find Full Text PDFObjective: To compare survival endpoints in patients with laryngeal carcinoma in situ (L-CIS) who received definitive radiotherapy (RT) versus other modalities as first-line treatment and after disease recurrence.
Methods: This is a retrospective study of patients with L-CIS treated between June 2001 and December 2021. Survival outcomes (recurrence-free (RFS), invasion-free (IFS), laryngectomy-free (LFS), and overall survival (OS)) were compared between patients who had first-line RT versus non-RT modalities and for patients with recurrent disease who underwent second-line RT.
Bromoform supplementation has been successful in reducing enteric methanogenesis in ruminants; however, the impacts on the health of these animals are still limited. The current study evaluates the impact of maternal bromoform supplementation on the health of late-gestation cows and their progeny. Pregnant Angus cows (n = 42) were allocated into a control or bromoform group (n = 21 cows per treatment).
View Article and Find Full Text PDFDescription This article summarizes the development and implementation of a mentoring program designed to support and educate physicians new to practice in a large, outpatient hospital system. The program addresses organizational, operational, and financial elements of medical practice. Topics include efficiency and time management, coding education, leadership, and burnout.
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