Publications by authors named "Siebert M"

Background: The variability in patients' risk of oral mucositis (OM) has been, in part, attributed to differences in host genomics. The aim better define the role of genomics as an OM risk by investigating the association between genetic variants and the presence and severity of OM in pediatric patients with osteosarcoma (OS) undergoing chemotherapy (CT).

Methods: A longitudinal observational retrospective study was conducted.

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  • Polycyclic aromatic hydrocarbons (PAHs) are complex organic molecules with multiple interconnected aromatic rings, commonly found in space.
  • Researchers discovered 1-cyanopyrene, a specific type of PAH derived from pyrene, in the dense cloud TMC-1 using the Green Bank Telescope.
  • The findings imply that PAHs, particularly pyrene, play a significant role in contributing carbon to young planetary systems, suggesting they originate from cold molecular clouds.
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Purpose: To evaluate the shear bond strength (SBS) of resin composite to dentin contaminated with artificial saliva (AS) containing mucin and amylase using an experimental method controlling the volume of saliva and adhesive in a defined surface area.

Methods: Flat bonding surfaces were prepared on extracted human molars (320 grit surface). Using adhesive tape, a 4.

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Background: Missed opportunities to reduce numbers of primary major lower-limb amputation and increase limb-salvage procedures when treating chronic limb-threatening ischaemia have previously been identified in the literature. However, the potential economic savings for healthcare providers when salvaging a chronic limb-threatening ischaemia-affected limb have not been well documented.

Methods: A model using National Health Service healthcare usage and cost data for 1.

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Background: Wound healing is a multistep process involving coordinated responses of a variety of cell types, cytokines, growth factors, and extracellular matrix (ECM) components leading to the physiological restoration of tissue integrity. Photobiomodulation therapy (PBMT) has been highlighted as an approach to improve the healing process, nonetheless at the molecular level, the effects of PBMT are not entirely understood.

Aim: To systematically review publications that investigated gene expression after PBMT during in vivo skin repair.

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Aquatic environments are subject to threats from multiple human activities, particularly through the release of untreated sanitary sewage into the coastal environments. These effluents contain a large group of natural or synthetic compounds referred to as emerging contaminants. Monitoring the types and quantities of toxic substances in the environment, especially complex mixtures, is an exhausting and challenging task.

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Objective: Medial epicondyle fractures are a common pediatric injury. When operative, cannulated partially threaded screws, with or without a washer, are commonly utilized. These implants may need to be removed after full healing if symptomatic.

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The heterogeneous pathogenesis and treatment response of non-small cell lung cancer (NSCLC) has led clinical treatment decisions to be guided by NSCLC subtypes, with lung adenocarcinoma and lung squamous cell carcinoma being the most common subtypes. While histology-based subtyping remains challenging, NSCLC subtypes were found to be distinct at the transcriptomic level. However, unlike genomic alterations, gene expression is generally not assessed in clinical routine.

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The identification of biomarkers for spinal muscular atrophy is crucial for predicting disease progression, severity, and response to new disease-modifying therapies. This study aimed to investigate the role of serum levels of myostatin and follistatin as biomarkers for spinal muscular atrophy, considering muscle atrophy secondary to denervation as the main clinical manifestation of the disease. The study evaluated the differential gene expression of myostatin and follistatin in a lesional model of denervation in mice, as well as in a meta-analysis of three datasets in transgenic mice models of spinal muscular atrophy, and in two studies involving humans with spinal muscular atrophy.

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Background: The end-users' acceptance is a core concept in the development, implementation and evaluation of new systems like robotic systems in daily nursing practice. So far, studies have shown various findings concerning the acceptance of systems that are intended to assist people with support or care needs. Not much has been reported on the acceptance of robots that provide direct physical assistance to nurses in bedside care.

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Objectives: To determine the postoperative trajectory and recovery of patients who undergo Lisfranc open reduction and internal fixation using Patient-Reported Outcomes Measurement Information System (PROMIS) physical function (PF) and pain interference (PI).

Design: Retrospective cohort study.

Setting: Level 1 trauma center.

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Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature.

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Purpose: Li-Fraumeni Syndrome (LFS) is a rare cancer predisposing condition caused by germline pathogenic TP53 variants, in which core tumors comprise sarcomas, breast, brain and adrenocortical neoplasms. Clinical manifestations are highly variable in carriers of the Brazilian germline founder variant TP53 p.R337H, possibly due to the influence of modifier genes such as miRNA genes involved in the regulation of the p53 pathway.

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  • Gaucher disease (GD) is an inherited disorder caused by a deficiency in the enzyme glucocerebrosidase due to genetic mutations, and this study focuses on the genetic profiles of 72 Brazilian patients with the disease.
  • The research identified 31 pathogenic variants, with the N370S mutation being the most common, found in 41% of patients, and a significant genotype was N370S/RecI, present in 23.6% of the cases.
  • Two new variants were discovered, and while full exon sequencing is the best approach, the study suggests a targeted analysis of specific exons could be effective for Brazilian GD patients.
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In biomonitoring and laboratory studies, it is typical to measure a battery of molecular, biochemical, and cytogenetic biomarkers to evaluate the effects of xenobiotics in biota. However, summarizing the results of several biomarkers to inform laypersons and environmental agencies is still a challenge for researchers and environmental specialists. To address this issue, researchers have developed indexes such as the Integrated Biomarker Responses (IBR) and Integrated Biomarker Response version 2 (IBRv2) to summarize all biomarkers responses into a single value.

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Importance: Industry involvement is prominent in influential clinical trials, and commitments to transparency of trials are highly variable.

Objective: To evaluate the modes of industry involvement and the transparency features of the most cited recent clinical trials across medicine.

Design, Setting, And Participants: This cross-sectional study was a meta-research assessment including randomized and nonrandomized clinical trials published in 2019 or later.

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Purpose: Patient-reported outcome measures intend to capture patients' perspectives on their health status. However, the patient-perceived applicability of many of these patient-reported outcome measures is unknown. We hypothesized that patients experiencing greater upper extremity disability and greater pain interference would be more likely to report that the Quick Disabilities of the Arm, Shoulder, and Hand questionnaire (QuickDASH) survey content is responsive to their daily lives and goals in seeking surgical care.

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Objective: To assess to what extent the clinical trial policies of the largest public and philanthropic funders of clinical research in the United States meet WHO best practices in trial registration and reporting.

Methods: Public and philanthropic funders of clinical trials in the USA with >US$50 million annual spend were selected. The funders were assessed using an 11-item scoring tool based on WHO Joint Statement benchmarks.

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Case: This is a case of a female patient born with thrombocytopenia-absent radius syndrome, with bilateral upper extremity phocomelia, bilateral hip dislocations, and congenital fusion of the right knee with progressively worsening flexion contracture. At age 3 years and 5 months, the patient was treated with excision of the knee ankylosis and Van Nes rotationplasty. This proved durable at age 20 years (final follow-up) without any need for further surgery and without complication.

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Objective: To explore differences between published reviews and their respective protocols in a sample of 97 non-Cochrane Systematic Reviews (non-CSRs) and 97 Cochrane Systematic Reviews (CSRs) in terms of PICOS (Patients/Population, Intervention, Comparison/Control, Outcome, Study type) elements and the extent to which they were reported.

Study Design And Setting: We searched PubMed and Cochrane databases to identify non-CSRs and CSRs that were published in 2018. We then searched for their corresponding Cochrane or PROSPERO protocols.

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Background & Aims: Liver regeneration is a repair process in which metabolic reprogramming of parenchymal and inflammatory cells plays a major role. Monoacylglycerol lipase (MAGL) is an ubiquitous enzyme at the crossroad between lipid metabolism and inflammation. It converts monoacylglycerols into free fatty acids and metabolises 2-arachidonoylglycerol into arachidonic acid, being thus the major source of pro-inflammatory prostaglandins in the liver.

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Genome editing has multiple applications in the biomedical field. They can be used to modify genomes at specific locations, being able to either delete, reduce, or even enhance gene transcription and protein expression. Here, we summarize applications of genome editing used in the field of lysosomal disorders.

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Article Synopsis
  • Pediatric medial malleolus fractures often result in Salter-Harris type III or IV fractures, which can lead to physeal bar formation and growth issues.
  • A study reviewed 78 pediatric patients, ultimately focusing on 41 with follow-up, to assess the incidence of this complication and the characteristics that might predict it.
  • Findings revealed that over 53% of patients developed physeal bars within an average of 4.9 months, indicating the need for ongoing radiographic monitoring for at least a year post-injury.
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