Mol Genet Metab Rep
March 2025
Objective: To provide insights and strategies for pegvaliase management in challenging cases with phenylketonuria (PKU) based on the first 5 years of experience with pegvaliase in real-world clinical practice.
Methods: Twelve PKU experts gathered during a one-day, in-person meeting to discuss clinical cases illustrating important lessons from their experiences treating patients with pegvaliase in real-world clinical practice. Challenges with pegvaliase experienced prior to and during treatment and corresponding strategies to overcome them were discussed.
Aging affects the 12-lead electrocardiogram (ECG) and correlates with cardiovascular disease (CVD). AI-ECG models estimate aging effects as a novel biomarker but have only been evaluated on single ECGs-without utilizing longitudinal data. We validated an AI-ECG model, originally trained on Brazilian data, using a German cohort with over 20 years of follow-up, demonstrating similar performance (r = 0.
View Article and Find Full Text PDFA VAPOL-derived phosphoramidite ligand is uniquely effective at reverting the regiochemical course of nickel-catalyzed reactions of aldehydes with carbamate-protected 5-amino-2,4-pentadienoates as "push/pull" dienes; the ensuing carbonyl α-amino-homoallylation reaction affords -configured -aminoalcohol derivatives in good yields with high optical purity. The reductive coupling is conveniently performed with a bench-stable Ni(0) precatalyst and EtB as the promoter.
View Article and Find Full Text PDFRuthenium based Grubbs metathesis has become a commonplace reaction for synthetic chemists. Development of new generations of catalysts evolving from Grubbs I (GI) have led to greater stability, functional group compatibility, and superior reactivities. However, these advancements lead to increased costs.
View Article and Find Full Text PDFOsteoarthritis is one of the most common locomotor diseases, with a steadily increasing prevalence and incidence. Loxacon is a food supplement capsule containing vitamins, minerals, and herbal extracts with extract and extract as its two main active components. The study involved 88 patients at 4 sites.
View Article and Find Full Text PDFImportance: Nutritional status before and during pregnancy is important for maternal health and fetal growth and development.
Objective: To describe secular trends in nutrient intake from foods, beverages, and supplements among pregnant and nonpregnant women of reproductive age in the US.
Design, Setting, And Participants: This was a secondary series of cross-sectional analyses of the 1999-2018 National Health and Nutrition Examination Survey (NHANES).
Particle therapy (PT) represents a significant advancement in cancer treatment, precisely targeting tumor cells while sparing surrounding healthy tissues thanks to the unique depth-dose profiles of the charged particles. Furthermore, their linear energy transfer and relative biological effectiveness enhance their capability to treat radioresistant tumors, including hypoxic ones. Over the years, extensive research has paved the way for PT's clinical application, and current efforts aim to refine its efficacy and precision, minimizing the toxicities.
View Article and Find Full Text PDFActa Crystallogr C Struct Chem
October 2024
The crystal structures of 16 boron subphthalocyanines (BsubPcs) with structurally diverse axial groups were analyzed and compared to elucidate the impact of the axial group on the intermolecular π-π interactions, axial-group interactions, axial bond length and BsubPc bowl depth. π-π interactions between the isoindole units of adjacent BsubPc molecules most often involve concave-concave packing, whereas axial-group interactions with adjacent BsubPc molecules tend to favour the convex side of the BsubPc bowl. Furthermore, axial groups that contain O and/or F atoms tend to have significant hydrogen-bonding interactions, while axial groups containing arene site(s) can participate in π-π interactions with the BsubPc bowl, both of which can strongly influence the crystal packing.
View Article and Find Full Text PDFCytomegalovirus, one of the most common congenital viruses in neonates, is represented within the TORCH acronym, which signifies its ability to be transmitted vertically to the fetus during maternal infection. Despite advances in prenatal diagnostics, CMV is still the leading cause of congenital infection in neonates, with a 0.64% prevalence.
View Article and Find Full Text PDFBoron subphthalocyanines with chloride and fluoride axial ligands and three antimony complexes chelated by corroles that differ in size and electron-richness were examined as electrocatalysts for reduction of protons to hydrogen. Experiment- and computation-based investigations revealed that all redox events are ligand-centered and that the meso-C of the corroles and the peripheral N atoms of the subphthalocyanines are the largely preferred proton-binding sites.
View Article and Find Full Text PDFThe precise synthesis of subporphyrinoid hybrids with π-expanded topologies and unique material properties plays a promising role in the design of functional macrocycles. Easy, selective, and controllable routes to boron subphthalocyanine-subnaphthalocyanine hybrids, Bsub(Pc-Nc)s, are desirable for this purpose yet synthetically challenging due to random mixtures of -, -, and, in some cases, -symmetric compounds that form during traditional statistical mixed cyclotrimerizations. Herein, we addressed this issue by developing a sterically driven mixed cyclotrimerization with enhanced selectivity for the targeted -symmetric hybrid and complete suppression of sterically crowded macrocyclic byproducts.
View Article and Find Full Text PDFCommonly associated with autoimmune and renal disorders, calcinosis cutis is a disorder of systemic calcium deposition in soft tissues. The pathophysiology of such deposition varies based on subtype, therefore treatment options vary not only in terms of severity of disease but also with subtype. This case report describes a 52-year-old female with systemic sclerosis and an extensive past medical history who initially presented with complaints of worsening left lower leg pain, a negative workup for deep vein thrombosis, and an extensive palpable mass in the posterior thigh with erythema, drainage, and purulence.
View Article and Find Full Text PDFCase Reports Plast Surg Hand Surg
February 2024
Ossifying fasciitis is a rare benign tumor of heterotopic bone formation within fascial tissue. We present a case of a 23-year-old female with a nontraumatic painful mass of the left proximal thigh identified as ossifying fasciitis, a lesion that must be considered in the differential diagnosis of soft tissue tumors.
View Article and Find Full Text PDFBrain tumor patients are commonly treated with radiotherapy, but the efficacy of the treatment is limited by its toxicity, particularly the risk of radionecrosis. We used human cerebral organoids to investigate the mechanisms and nature of postirradiation brain image changes commonly linked to necrosis. Irradiation of cerebral organoids lead to increased formation of ZO1/AQP1/CLN3-choroid plexus (CP) structures.
View Article and Find Full Text PDFConjugated macromolecules have a rich history in chemistry, owing to their chemical arrangements that intertwine physical and electronic properties. The continuing study and application of these systems, however, necessitates the development of atomically precise models that bridge the gap between molecules, polymers, and/or their blends. One class of conjugated polymers that have facilitated the advancement of structure-property relationships is discrete, precision oligomers that have remained an outstanding synthetic challenge with only a handful of reported examples.
View Article and Find Full Text PDFBackground: This study aims to evaluate medication dispensing by pharmacy technicians at a geriatric inpatient ward at a Danish hospital.
Methods: Four pharmacy technicians were trained in delivering a dispensing service at a geriatric ward. At baseline, the ward nurses recorded the time spent dispensing the medication and the number of interruptions.
Electrocardiography analysis is widely used in various clinical applications and Deep Learning models for classification tasks are currently in the focus of research. Due to their data-driven character, they bear the potential to handle signal noise efficiently, but its influence on the accuracy of these methods is still unclear. Therefore, we benchmark the influence of four types of noise on the accuracy of a Deep Learning-based method for atrial fibrillation detection in 12-lead electrocardiograms.
View Article and Find Full Text PDFTargeted therapies such as venetoclax (VEN) (Bcl-2 inhibitor) have revolutionized the treatment of chronic lymphocytic leukemia (CLL). We previously reported that persister CLL cells in treated patients overexpress multiple antiapoptotic proteins and display resistance to proapoptotic agents. Here, we demonstrated that multidrug-resistant CLL cells in vivo exhibited apoptosis restriction at a pre-mitochondrial level due to insufficient activation of the Bax and Bak (Bax/Bak) proteins.
View Article and Find Full Text PDFDespite their remarkable performance, deep neural networks remain unadopted in clinical practice, which is considered to be partially due to their lack of explainability. In this work, we apply explainable attribution methods to a pre-trained deep neural network for abnormality classification in 12-lead electrocardiography to open this "black box" and understand the relationship between model prediction and learned features. We classify data from two public databases (CPSC 2018, PTB-XL) and the attribution methods assign a "relevance score" to each sample of the classified signals.
View Article and Find Full Text PDFAn exceptional gut-colonizing ability may underlie the dramatic epidemiological success of the multidrug-resistant 30R subclone of sequence type 131 (O25b:K+:H4). In order to inform the development of colonization-preventing measures, we studied systemic immune correlates of 30R intestinal colonization. Human volunteers' fecal samples were screened for 30R by selective culture and PCR.
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