70,489 results match your criteria: "University of Texas Southwestern[Affiliation]"

Background: Ventricular tachycardia (VT) substrate characteristics before transcatheter pulmonary valve replacement (TPVR) in repaired tetralogy of Fallot (rTOF) are unknown.

Objectives: In this study, the authors sought to evaluate substrates for sustained monomorphic VT before TPVR in rTOF.

Methods: Retrospective (2017 to 2021) and prospective (commencing 2021) rTOF patients with native right ventricular outflow tract referred for electrophysiology study (EPS) before TPVR were included.

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Mechanisms and rationales of SAM homeostasis.

Trends Biochem Sci

January 2025

Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390-9038, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX USA. Electronic address:

S-Adenosylmethionine (SAM) is the primary methyl donor for numerous cellular methylation reactions. Its central role in methylation and involvement with many pathways link its availability to the regulation of cellular processes, the dysregulation of which can contribute to disease states, such as cancer or neurodegeneration. Emerging evidence indicates that intracellular SAM levels are maintained within an optimal range by a variety of homeostatic mechanisms.

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Background & Aims: Pancreatic cysts often pose challenges in predicting malignant progression. Next-generation sequencing has become an appealing ancillary diagnostic test. The diagnostic performance is well characterized, but the impact on clinical management remains unclear.

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Background: The Pediatric Interagency Registry for Mechanical Circulatory Support (Pedimacs), supported by The Society of Thoracic Surgeons, provides detailed information on pediatric patients supported with ventricular assist devices (VADs).

Methods: From September 19, 2012, to December 31, 2023, there were 1648 devices in 1349 patients (<19 years) from 39 North American Hospitals with 100 patients enrolled in 2023.

Results: Cardiomyopathy was the most common underlying etiology (59%), followed by congenital heart disease (26%) and myocarditis (8%).

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Peptide nucleic acids (PNA), synthetic molecules comprising a peptide-like backbone and natural and unnatural nucleobases, have garnered significant attention for their potential applications in gene editing and other biomedical fields. The unique properties of PNA, particularly enhanced stability/specificity/affinity towards targeted DNA and RNA sequences, achieved significant attention recently for gene silencing, gene correction, antisense therapy, drug delivery, biosensing and other various diagnostic aspects. This review explores the structure, properties, and potential of PNA in transforming genetic engineering including potent biomedical challenges.

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Cancer remains a leading cause of mortality, with aggressive, treatment-resistant tumors posing significant challenges. Current combination therapies and imaging approaches often fail due to disparate pharmacokinetics and difficulties correlating drug delivery with therapeutic response. In this study, we developed radionuclide-activatable theranostic nanoparticles (NPs) comprising folate receptor-targeted bimetallic organo-nanoparticles (Gd-Ti-FA-TA NPs).

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Pulmonary artery choriocarcinoma mimicking pulmonary thromboembolism: a case report.

Transl Cancer Res

December 2024

Department of Geriatric Respiratory Disease, Institute of Guangdong Provincial Geriatrics, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.

Background: Primary choriocarcinoma of the pulmonary artery is an exceedingly rare malignant neoplasm, which is often misdiagnosed due to its nonspecific clinical presentation. While this condition is characterized by the presence of trophoblastic cells, typically associated with gestational trophoblastic diseases, we encountered a case occurring in an extragenital location. The rarity of such tumors makes it challenging for clinicians to consider them in differential diagnosis, especially when the initial symptoms mimic more common conditions such as pulmonary thromboembolism (PTE).

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Background: Classic Hodgkin lymphoma (CHL) is an extremely common non-acquired immunodeficiency syndrome (AIDS) defining malignancy and its incidence is rising. CHL is usually present in the lymph node and extranodal involvement is rare. Primary CHL of the gastrointestinal (GI) tract is exceedingly rare.

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Purpose: This systematic review aimed to identify and compare tools used to evaluate quality of life (QoL) after pelvic radiation for cervical cancer and to describe variations in results within commonly used instruments. This review hypothesized regional preferences in the selection of these tools and an absence of uniformity in their application globally.

Methods And Materials: A comprehensive search of 6 databases was conducted between the inception of each included database and June 14, 2023, focusing on studies evaluating the QoL of patients with cervical cancer during and after radiation.

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Sc-Catalyzed Asymmetric [2 + 2] Annulation of 2-Alkynylnaphthols with Dienes to Access Cyclobutene Frameworks.

Org Lett

January 2025

State Key Laboratory of Southwestern Chinese Medicine Resources, School of Pharmacy, Chengdu University of Traditional Chinese Medicine, Chengdu 611137, P. R. China.

Herein, we introduce a scandium-catalyzed synthetic strategy that provides access to a diverse and functionalized array of cyclobutene frameworks adorned with a quaternary carbon center. This approach broadens the synthetic repertoire of 2-alkynylnaphthols with alkenes, offering a versatile platform for the construction of complex molecular architectures. The asymmetric catalytic [2 + 2] cycloaddition reaction demonstrates a wide substrate scope and an impressive functional group tolerance, yielding products with high efficiency, up to 97% yield, and excellent enantiomeric excess of up to 97%.

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Objective: To examine neuropsychological characteristic differences between typical and atypical language dominance in adult persons with epilepsy (PWE) and mesial temporal sclerosis (MTS), including exploring the impact of selected clinical variables on detection of atypical language and neuropsychological performance.

Methods: Adults with intractable epilepsy and MTS ( = 39) underwent comprehensive, pre-surgical evaluation including fMRI and neuropsychological assessment. Participants with concordant lateralization of MTS and seizure onset were included.

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The cholangioblastic variant of intrahepatic cholangiocarcinoma is a distinctive neoplasm that typically affects young women without underlying liver disease. Morphologically, it demonstrates solid, trabecular, and tubulocystic architecture, biphasic small cell-large cell cytology, and immunoreactivity for inhibin, neuroendocrine markers, and biliary but not hepatocellular markers. In 2021, our group identified a characteristic NIPBL::NACC1 gene fusion in cholangioblastic cholangiocarcinoma, and since then ~20 genetically confirmed cases have been reported in the literature.

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Neurotransmitter release is triggered in microseconds by the two C domains of the Ca sensor synaptotagmin-1 and by SNARE complexes, which form four-helix bundles that bridge the vesicle and plasma membranes. The synaptotagmin-1 CB domain binds to the SNARE complex via a 'primary interface', but the mechanism that couples Ca-sensing to membrane fusion is unknown. Widespread models postulate that the synaptotagmin-1 Ca-binding loops accelerate membrane fusion by inducing membrane curvature, perturbing lipid bilayers or helping bridge the membranes, but these models do not seem compatible with SNARE binding through the primary interface, which orients the Ca-binding loops away from the fusion site.

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AUTS2 syndrome is characterized by intellectual disability and microcephaly, and is often associated with autism spectrum disorder, but the underlying mechanisms, particularly concerning microcephaly, remain incompletely understood. Here, we analyze mice mutated for the transcriptional regulator AUTS2, which recapitulate microcephaly. Their brains exhibit reduced division of intermediate progenitor cells (IPCs), leading to fewer neurons and decreased thickness in the upper-layer cortex.

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Synthetic circuits that regulate protein secretion in human cells could support cell-based therapies by enabling control over local environments. Although protein-level circuits enable such potential clinical applications, featuring orthogonality and compactness, their non-human origin poses a potential immunogenic risk. In this study, we developed Humanized Drug Induced Regulation of Engineered CyTokines (hDIRECT) as a platform to control cytokine activity exclusively using human-derived proteins.

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Patient-reported health status is an important assessment of patients with heart failure, but current approaches have substantial methodological and analytical limitations. Changes in the Kansas City Cardiomyopathy Questionnaire (KCCQ) are commonly presented as a measure of the effect of drugs and devices, most often as the between-group difference in population means or as the odds of showing threshold changes of 5, 10, 15, and 20 points. However, the presentation of mean differences is based on statistical assumptions that are routinely violated in most trials.

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Objective: To determine if higher serum exposure during subcutaneous (SC) abatacept treatment was associated with an increased infection risk in adult patients with early rheumatoid arthritis (RA).

Methods: Data from AVERT-2 (Assessing Very Early Rheumatoid arthritis Treatment-2, NCT02504268), a randomized, placebo-controlled study in anticitrullinated protein antibody- positive patients with early RA, were analyzed. A post hoc population pharmacokinetic (PPK) analysis was performed.

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regulates melanocortin 4 receptor transcription and energy homeostasis.

Sci Transl Med

January 2025

Hypothalamic Research Center, Department of Internal Medicine, UT Southwestern Medical Center, Dallas TX, 75390, USA.

Disruption of hypothalamic melanocortin 4 receptors (MC4Rs) causes obesity in mice and humans. Here, we investigated the transcriptional regulation of in the hypothalamus. In mice, we show that the homeodomain transcription factor Orthopedia (OTP) is enriched in MC4R neurons in the paraventricular nucleus (PVN) of the hypothalamus and directly regulates transcription.

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Approach to the Patient with Achondroplasia - New Considerations for Diagnosis, Management and Treatment.

J Clin Endocrinol Metab

January 2025

Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.

Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.

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Scabies Infestations-Reply.

JAMA

January 2025

Department of Dermatology, University of California, San Francisco, School of Medicine, San Francisco.

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Purpose Of Review: This review summarizes the current literature on primary graft dysfunction highlighting the current definition, reviewing epidemiology, and describing donor, recipient, and perioperative risk factors in the contemporary era.

Recent Findings: PGD, in its most severe form, complicates 8% of heart transplants and portends a 1-year mortality of close to 40%. PGD is multifactorial and heterogeneous with contributions from donor and recipient risk as well as organ recovery and preservation modalities.

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Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.

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Background: Heart failure (HF) is a heterogeneous clinical syndrome affecting a growing global population. Due to the high incidence of cardiovascular risk factors, a large proportion of the Western population is at risk for heart failure. Oxidative stress and inflammation play a crucial role in the pathophysiology of heart failure with preserved ejection fraction (HFpEF).

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