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Capicua transcriptional repressor (CIC)-rearranged sarcoma (CRS) is a rare and recently described tumor that most commonly affects patients between 15 and 30 years of age. It is an undifferentiated round cell malignancy, with a disease defining CIC fusion, with double homeobox 4 (DUX4) being the most common partner. Here, we report a 77-year-old woman who presented with a cutaneous thigh mass with a clinical morphology suggesting Merkel cell carcinoma.

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Introduction: Detrusor contractions can be classified as either volitional or involuntary. The latter are a hallmark of urge urinary incontinence. Understanding differences in neuroactivation associated with both types of contractions can help elucidate pathophysiology and therapeutic targets.

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Diagnostic characteristics of pediatric cyclic vomiting syndrome.

J Pediatr Gastroenterol Nutr

December 2024

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Objectives: Cyclic vomiting syndrome (CVS) remains a diagnostic challenge due to its nonspecific presentation despite consensus-based diagnostic criteria. There is a need for improved, evidence-based diagnostic criteria. We hypothesized that symptoms differ quantitatively between children with CVS versus other vomiting conditions and that current diagnostic criteria are not sufficiently sensitive for diagnosing CVS.

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Background: The association between different anthropometric indices, including body mass index (BMI), a body shape index (ABSI), lipid accumulation product (LAP), visceral adiposity index (VAI), waist circumference-triglyceride index (WTI), weight-adjusted waist index (WWI), body roundness index (BRI) and the prevalence of overactive bladder (OAB) is unclear. This investigation aims to explore the association among different anthropometric indices and overactive bladder as well as confounding variables.

Methods: Data were obtained from the USA National Health and Nutrition Examination Survey (NHANES) data set between 2005 and 2018, and 15231 participants were included in the study.

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Successful Multi-Modal Laser Intervention and Histopathological Evaluation of Multiple Glomangiomas.

Lasers Surg Med

December 2024

Department of Dermatology, Veterans Health Administration, San Antonio, Texas, USA.

Objectives: Glomangiomas are benign vascular malformations that exist within the spectrum of glomuvenous malformations which consist of varying amounts of glomus cells, vascular spaces, and smooth muscle. Glomangiomas are often treated due to associated pain, particularly when located on pressure areas such as the back or extensor surfaces, which can cause difficulty with certain activities and occupational functions. Histologically glomangiomas consist of prominent dilated vascular spaces lined by glomus cells typically situated in the deep-dermis to subcutaneous fat which limits treatment to modalities capable of reaching the depth of the tumor including excision, sclerotherapy, and laser therapy.

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Background: There is a bidirectional relationship between sleep and pain disturbances. Sleep disturbances increase the risk for chronic pain, while chronic pain can interfere with sleep. Hence, we assessed the subjective sleep characteristics of youth with functional abdominal pain disorders (FAPDs) compared to healthy youth and examined associations with gastrointestinal symptoms.

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Background: The role of Intravascular ultrasound (IVUS) and optical coherence tomography (OCT) is still unclear in patients with STEMI undergoing PCI in the current second-generation DES era.

Aims: This study aimed to evaluate the trends and outcomes of IVUS-guided PCI in patients with STEMI.

Methods: We used the National Inpatient Sample (NIS) database from 2016 to 2021.

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Inflammatory disease in people with multiple sclerosis treated with immune checkpoint inhibitors.

Ann Clin Transl Neurol

December 2024

Mellen Center for Multiple Sclerosis, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.

This study evaluated disease activity in people with Multiple Sclerosis (PwMS) who received immune checkpoint inhibitors (ICIs) compared to PwMS not treated with ICIs. There were 108 PwMS included (27 PwMS+ICIs and 81 PwMS controls), matched on age, sex, disease duration, DMTs, and MS disease course. Of 27 PwMS+ICIs, one (4%) had a relapse and four (15%) developed new MRI lesions without clinical symptoms.

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Immigration is among the most pressing issues of our time. Important questions concern the psychological mechanisms that contribute to attitudes about immigration. Whereas much is known about adults' immigration attitudes, the developmental antecedents of these attitudes are not well understood.

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This study aimed to evaluate the effects of dietary fat source and feeding duration on growth performance, carcass characteristics, and meat quality of finishing pigs. A total of 450 twenty-one-week-old finishing pigs with an average body weight of 113.7 ± 8 kg were housed in 90 pens assigned to one of five dietary treatments in a 2×2 + 1 factorial design.

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Background: Cyclic vomiting syndrome (CVS) is defined by its episodic patterning. Furthermore, CVS is associated with other episodic disorders such as migraine and epilepsy. Indeed, many of the medications that are known to be useful for prophylaxis and abortive therapy in CVS are also effective in preventing and aborting migraines and seizures.

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Climate Change Impacts Pair-Bond Dynamics in a Long-Lived Monogamous Species.

Ecol Lett

December 2024

Biology Department, Woods Hole Oceanographic Institution, Woods Hole, Massachusetts, USA.

Climate change can influence populations of monogamous species by affecting pair-bond dynamics. This study examined the impact of climate on widowhood and divorce, and the subsequent effects on individual vital rates and life-history outcomes over 54 years in a snow petrel (Pagodroma nivea) population. We found that environmental conditions can affect pair-bond dynamics both directly and indirectly.

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Bacterial biofilms represent a formidable challenge in the treatment of chronic wounds, largely because of their resistance to conventional antibiotics. The emergence of multidrug-resistant (MDR) bacterial strains exacerbates this issue, necessitating a shift towards exploring alternative therapeutic approaches. In response to this urgent need, there has been a surge in research efforts aimed at identifying effective non-antibiotic treatments.

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Background: Data are limited on the natural history and symptom patterns of cyclic vomiting syndrome (CVS), a disorder of gut-brain interaction characterized by recurrent stereotypical vomiting, retching, and nausea episodes.

Methods: A 6-month, observational, remote study prospectively assessed symptom patterns in adults with CVS using an electronic daily diary. Patients recorded their disease experience, including CVS symptoms and associated severity, in the daily diary.

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This paper presents progress made toward the overarching goal to adapt single-photon-counting microcalorimeters to magnetic fusion energy research and demonstrate the value of such measurements for fusion. Microcalorimeter spectrometers combine the best characteristics of x-ray instrumentation currently available on fusion devices: high spectral resolution similar to an x-ray crystal spectrometer and broad spectral coverage sufficient to measure impurity species from Be to W. As a proof-of-principle experiment, a NASA-built x-ray microcalorimeter spectrometer has been installed on the Madison Symmetric Torus (MST) at the Wisconsin Plasma Physics Laboratory.

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Genet Med

December 2024

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

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Time words like "yesterday" and "tomorrow" are abstract, and are interpreted relative to the context in which they are produced: the word "tomorrow" refers to a different point in time now than in 24 h. We tested 112 three- to five-year-old English- and Hindi-speaking children on their knowledge of "yesterday" and "tomorrow," which are represented by the same word in Hindi-Urdu: "kal." We found that Hindi learners performed better than English learners when tested on actual past and future events, but that performance for hypothetical events was poor for both groups.

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BLOC1S1 Control of Vacuolar Organelle Fidelity Modulates Murine T2 Cell Immunity and Allergy Susceptibility.

Allergy

December 2024

Laboratory of Mitochondrial Biology and Metabolism, NHLBI, NIH, Bethesda, Maryland, USA.

Background: The levels of biogenesis of lysosome organelles complex 1 subunit 1 (BLOC1S1) control mitochondrial and endolysosome organelle homeostasis and function. Reduced fidelity of these vacuolar organelles is increasingly being recognized as important in instigating cell-autonomous immune cell activation. We reasoned that exploring the role of BLOC1S1 in CD4 T cells may further advance our understanding of regulatory events linked to mitochondrial and/or endolysosomal function in adaptive immunity.

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Delirium is a neuropsychiatric syndrome commonly presenting during acute illness. The pathophysiology of delirium is unknown, but neuroinflammation is suggested to play a role. In this cross-sectional study, we aimed to investigate whether cell-free DNA and markers of neutrophil extracellular traps in serum and CSF were associated with delirium and neuronal damage, assessed by neurofilament light chain.

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Hypoxia triggers blood-brain barrier disruption and a strong microglial activation response around leaky cerebral blood vessels. These events are greatly amplified in aged mice which is translationally relevant because aged patients are far more likely to suffer hypoxic events from heart or lung disease, and because of the pathogenic role of blood-brain barrier breakdown in vascular dementia. Importantly, it is currently unclear if disrupted cerebral blood vessels spontaneously repair and if they do, whether surrounding microglia deactivates.

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Global seasonal influenza circulation involves a complex interplay between local (seasonality, demography, host immunity) and global factors (international mobility) shaping recurrent epidemic patterns. No studies so far have reconciled the two spatial levels, evaluating the coupling between national epidemics, considering heterogeneous coverage of epidemiological, and virological data, integrating different data sources. We propose a novel-combined approach based on a dynamical model of global influenza spread (GLEAM), integrating high-resolution demographic, and mobility data, and a generalized linear model of phylogeographic diffusion that accounts for time-varying migration rates.

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Purpose: Asymmetric anterior closing-wedge high tibial osteotomy (ACWHTO) allows correction of both excessive posterior tibial slope (PTS) and varus deformity. However, the complexity of this surgery requires a high degree of accuracy, which is less likely to be achieved with standard instrumentations. This study aimed to determine the accuracy of 3D patient-specific cutting guides (PSCGs) to provide the accurate planned correction in the frontal and sagittal planes.

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Both sexual and gender minority youth (SGMY) and youth living with disabilities are disproportionately impacted by bias-based bullying in school settings. While research has separately examined how sexual and gender minority status and disability status are associated with experiences of bullying, very little research has explored the experiences of youth living with these identities simultaneously. This study examined to what extent SGMY report differential experiences of bias-based bullying depending on various identities and the type of disability an individual reports.

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