12,592 results match your criteria: "M.V.; and Amphia Hospital[Affiliation]"

Background: Neurofibromatosis type 1 (NF1) is a common genetic disorder of phenotypic variability with age-dependent penetrance. This study describes the diagnosis, clinical characterization, management, and outcomes of a large patient cohort with plexiform neurofibroma (PN) treated with selumetinib in a real-world clinical setting.

Methods: This single-center observational study consecutively enrolled patients with NF1-PN treated with selumetinib from April 2018 to 2023.

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A virtual scalable model of the Hepatic Lobule for acetaminophen hepatotoxicity prediction.

NPJ Digit Med

November 2024

Department of Computer Science, Digital Engineering and Artificial Intelligence, Long Island University, Brooklyn, NY, USA.

Addressing drug-induced liver injury is crucial in drug development, often causing Phase III trial failures and market withdrawals. Traditional animal models fail to predict human liver toxicity accurately. Virtual twins of human organs present a promising solution.

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Impact of personalized response-directed surgery and adjuvant therapy on survival after neoadjuvant immunotherapy in stage III melanoma: Comparison of 3-year data from PRADO and OpACIN-neo.

Eur J Cancer

January 2025

Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands; Department of Medical Oncology, Leiden University Medical Center, Leiden, the Netherlands; Molecular Oncology and Immunology, Netherlands Cancer Institute, Amsterdam, the Netherlands; University Clinic Regensburg, Dept. Hematology and Medical Oncology, Regensburg, Germany. Electronic address:

Background: Pathologic response following neoadjuvant immune checkpoint blockade (ICB) in stage III melanoma serves as a surrogate marker for long-term outcomes. This may support more personalized, response-directed treatment strategies.

Methods: The OpACIN-neo and PRADO trials were phase 2 studies evaluating neoadjuvant treatment with ipilimumab and nivolumab in stage III melanoma.

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It is not well investigated whether exposure to specific drug classes is associated with COVID-19. We investigated the risk of SARS-CoV-2 infection and severe COVID-19 among healthcare workers according to prescription drug use. We conducted an observational study among Danish healthcare workers.

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Spinal motor neuron (MN) dysfunction is the cause of a number of clinically significant movement disorders. Despite the recent approval of gene therapeutics targeting these MN-related disorders, there are no viral delivery mechanisms that achieve MN-restricted transgene expression. In this study, chromatin accessibility profiling of genetically defined mouse MNs was used to identify candidate cis-regulatory elements (CREs) capable of driving MN-selective gene expression.

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Novel Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia.

Neurol Genet

December 2024

From the Department of Neurology (A.V., M.V.P., D.S.); Department of Clinical Genomics (L.A.S.); Division of Pediatric Pulmonology (N.D., R.P.B.), Department of Pediatrics and Adolescent Medicine; Division of Pediatric Rehabilitation Medicine, Department of Physical Medicine and Rehabilitation (A.E.R.); and Department of Pediatrics and Adolescent Medicine (C.R.F.), Mayo Clinic.

Article Synopsis
  • The study focuses on a novel variant of the AIFM1 gene linked to early-onset hearing loss and progressive cerebellar ataxia in two siblings.
  • Clinical evaluations included brain MRI scans, electromyography (EMG) studies, and whole genome sequencing (WGS), revealing various neurological symptoms and a unique genetic mutation.
  • The findings suggest that AIFM1 variants should be considered in hereditary cases of cerebellar ataxia and auditory issues, contributing new insights into the genetic spectrum of related diseases.
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Bariatric surgery is known to induce weight loss and diabetes remission in patients with type 2 diabetes (T2D), but the exact mechanism of glycemic normalization needs to be defined. The study included patients with BMI ≥ 35 kg/m, obesity history ≥ 10 years, and planned bariatric surgery. At baseline and 3 and 6 months after surgery, all patients underwent anthropometric measurements, body composition and blood tests (including insulin, glucagon, and incretins during oral glucose tolerance test (OGTT)), and hyperinsulinemic euglycemic clamp tests.

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Article Synopsis
  • The ring rot of potato, caused by a bacterial pathogen, is a quarantine disease that threatens the global potato industry, making its detection crucial for control efforts.
  • A new detection system combines CRISPR/Cas13a with NASBA for identifying viable bacteria in potato tubers, allowing for both instrumental and visual detection methods.
  • The system shows a limit of detection as low as 1000 RNA copies per reaction and can be performed in under 2 hours, potentially serving as a routine on-site testing method.
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Matrikines of Sea Cucumbers: Structure, Biological Activity and Mechanisms of Action.

Int J Mol Sci

November 2024

Department of Bioeconomy and Food Security, School of Economics and Management, Far Eastern Federal University, Vladivostok 690922, Russia.

Matrikines (MKs), the products of enzymatic fragmentation of various extracellular matrix (ECM) proteins, regulate cellular activity by interacting with specific receptors. MKs affect cell growth, proliferation, and migration, can induce apoptosis and autophagy, and are also effectively used in biomedicine and functional nutrition. Recently, there has been great interest in the structural features and biological activity of MKs from various sources.

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Background: This study aimed to analyze the potential pathogenic connection between metabolic factors, photoreceptor cell rearrangements, retinal microvascular perfusion, and functional parameters through multifocal electroretinography (mfERG) in type 1 diabetes mellitus (DM1).

Methods: This prospective observational cohort study enrolled DM1 patients (40.5 ± 9.

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: As the first sentinel lymph nodes (SLN) in lung cancer are most likely to harbor metastasis, their non-invasive identification could have a significant role in future treatments. We investigated the feasibility of adding an SLN procedure to a diagnostic navigation bronchoscopy. : Thirty-one patients were included for injection of Tc-nanocolloid and an iodinated contrast agent intra-/peritumorally and assessment of tracer dissipation via SPECT and CBCT imaging.

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Compared with those of berries, the stems and leaves of the genus Vaccinium are important and underestimated sources of polyphenols with high antioxidant activity. In the course of this work, aqueous methanol extracts of the aerial parts of common bilberry ( L.) and bog bilberry L.

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Metabolomics analysis reveals resembling metabolites between humanized γδ TCR mice and human plasma.

Sci Rep

November 2024

InGenious Targeting Laboratory, 2200 Smithtown Avenue Ronkonkoma, Ronkonkoma, NY, 11779, United States of America.

Gamma delta (γδ) T cells, which reside in mucosal and epithelial tissues, are integral to immune responses and are involved in various cancers, autoimmune, and infectious diseases. To study human γδ T cells to a translational level, we developed γδ humanized TCR-T1 (HuTCR-T1) mice using our TruHumanization platform. We compared the metabolomic profiles from plasma samples of wild-type (WT), γδ HuTCR-T1 mice, and humans using UHPLC-MS/MS.

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Neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis are characterized by progressive destruction of neurons and cognitive impairment, and thorough studies have provided evidence that these pathologies have a close relationship to the failure of the blood-brain barrier (BBB). Nattokinase (NK), a protease found in fermented soybeans, has been extensively studied because it displays powerful neuroprotective abilities, which is why current research was reviewed in the present article. It was concluded that there is enough evidence in preclinical studies using experimental animals that NK supplementation can alleviate the condition related to BBB dysfunction, reduce brain inflammation, and improve cognitive ability.

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Agarases produce agar oligosaccharides with various structures exhibiting diverse physiological activities. α-Neoagaro-oligosaccharide hydrolase (α-NAOSH) specifically cleaves even-numbered neoagaro-oligosaccharides, producing 3,6-anhydro-l-galactose (l-AHG) and odd-numbered agaro-oligosaccharides (OAOSs). In this study, α-NAOSH from the agar-degrading marine bacterium JEA5 (Gaa117) was purified and characterized using an expression system to produce OAOSs and determine their bioactivity.

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Environmental Life Cycle Assessment of a U.S. Hospital-based Radiology Practice.

Radiology

November 2024

From Koninklijke Philips NV, Amsterdam, the Netherlands (C.L.T., M.V.G., S.N., C.M., J.G., O.S., S.T.); and Department of Radiology, Vanderbilt University Medical Center, 1211 Medical Center Dr, VUH 1145, Nashville, TN 37212 (D.P., R.A.O., D.E.C., J.R.S.).

Background Climate change, driven primarily by human-induced greenhouse gas (GHG) emissions, poses major risks to human health. Health care contributes 8.5% of GHG emissions in the United States.

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Vaccination with Ad26.RSV.preF, an Adenoviral serotype 26 vector encoding RSV F protein stabilized in its prefusion conformation, has previously shown to be immunogenic and protective in RSV seropositive adults and immunogenic in seropositive infants.

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Determining Line of Therapy from Real-World Data in Non-Small Cell Lung Cancer.

Pharmacoepidemiol Drug Saf

December 2024

Department of Medicine, Division of Hematology and Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Article Synopsis
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Vasculitic Myopathy: Clinical Characteristics and Long-Term Outcomes.

Neurology

December 2024

From the Department of Neurology (M.V.P., P.S., E.N.), and Division of Rheumatology (K.J.W., M.J.K.), Department of Internal Medicine, Mayo Clinic, Rochester, MN.

Article Synopsis
  • - The study investigates vasculitic myopathy, a rare manifestation of vasculitis, to characterize its clinical features, lab results, and treatment outcomes using a retrospective review of patient records from 1980 to 2022.
  • - Out of 25 identified patients, most presented with proximal weakness and pain, with 80% showing myopathy as the first sign of vasculitis; significant findings included inflammation in muscle biopsies and elevated blood markers in some cases.
  • - Key findings include high instances of perivascular inflammation in biopsies, with substantial destruction noted in vessel walls; a notable proportion of patients also displayed signs of peripheral neuropathy.
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Purpose: In mandibular reconstructive surgery with free fibula flap, 3D-printed patient-specific cutting guides are the current state of the art. Although these guides enable accurate transfer of the virtual surgical plan to the operating room, disadvantages include long waiting times until surgery and the inability to change the virtual plan intraoperatively in case of tumor growth. Alternatively, (electromagnetic) surgical navigation combined with a non-patient-specific cutting guide could be used, requiring accurate image-to-patient registration.

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Background: Nurse practitioners have been prescribing medication within a narrow scope of practice throughout the world for several decades as a means of meeting rising demand for community health services. Prominent medical bodies have alleged that the Australian government's decision to remove the need for general practitioner collaboration in the context of a nurse practitioner prescribing medication compromises patient safety.

Objectives: This study aimed to determine whether nurse practitioner prescribing increases patient risk relative to general practitioner prescribing in a large digital health service.

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. Alzheimer's disease (AD) is one of the most common neurodegenerative diseases. It has been suggested that the factors that cause pathologic changes and lead to the development of AD may also include changes in certain neuropeptides.

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Cerebral amyloid angiopathy impacts neurofibrillary tangle burden and cognition.

Brain Commun

November 2024

Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.

Cerebral amyloid angiopathy commonly co-occurs with amyloid β plaques and neurofibrillary degeneration and is proposed to contribute to cognitive impairment. However, the interplay among these pathologic changes of Alzheimer disease is not well understood. Here we replicate and extend findings of a recent study that suggested the association of cerebral amyloid angiopathy and cognitive impairment is mediated by neurofibrillary degeneration.

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Article Synopsis
  • The study investigates the clinical profiles and outcomes of patients diagnosed with deep neck space infections (DNSI), emphasizing the need for early surgical intervention and effective airway management.
  • It highlights the primary causes of DNSI, which include nodal and odontogenic origins, and stresses that untreated underlying issues could lead to recurrent infections, increasing risks of morbidity and mortality.
  • The research evaluated 20 patients in India, finding that the majority were male, with diabetes being a common risk factor; most cases were of nodal origin, with significant involvement of the submandibular space and the Streptococcus species identified as a common pathogen.
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Photodamage to the outer segments of photoreceptor cells and their impaired utilization by retinal pigment epithelium (RPE) cells contribute to the development of age-related macular degeneration (AMD) leading to blindness. Degeneration of photoreceptor cells and RPE cells is triggered by reactive oxygen species (ROS) produced by photochemical reactions involving bisretinoids, by-products of the visual cycle, which accumulate in photoreceptor discs and lipofuscin granules of RPE. Carotenoids, natural antioxidants with high potential efficacy against a wide range of ROS, may protect against the cytotoxic properties of lipofuscin.

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