Publications by authors named "O'Toole J"

The disproportionate risk for idiopathic proteinuric podocytopathies in Black people is explained, in part, by the presence of two risk alleles (G1 or G2) in the gene. The pathogenic mechanisms responsible for this genetic association remain incompletely understood. We analyzed glomerular RNASeq transcriptomes from patients with idiopathic nephrotic syndrome of which 72 had inferred African ancestry (AA) and 152 did not (noAA).

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Study Design: Scoping review.

Objective: To identify which markers are used as surrogates for malnutrition in metastatic spine disease and which are the most studied outcomes associated with it.

Methods: A scoping review was performed by searching the PubMed/Medline, EMBASE, and Web of Science databases up to July 2022.

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Background Context: Clinical outcomes are directly related to patient selection and treatment indications for improved quality of life. With emphasis on quality and value, it is essential that treatment recommendations are optimized.

Purpose: The purpose of the North American Spine Society (NASS) Appropriate Use Criteria (AUC) is to determine the appropriate (ie, reasonable) multidisciplinary treatment recommendations for patients with metastatic neoplastic vertebral fractures across a spectrum of more common clinical scenarios.

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Study Design: Delphi study.

Objective: The objective of this study was to identify risk factors associated with the development and/or progression of neurological deficits in patients with metastatic spinal disease.

Methods: A three-round Delphi study was conducted between January-May 2023 including AO Spine members, comprising mainly neurosurgeons and orthopedic surgeons.

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Study Design: Systematic review and clinimetric analysis.

Objectives: Frailty and sarcopenia predict worse surgical outcomes among spinal degenerative and deformity-related populations; this association is less clear in the context of spinal oncology. Here, we sought to identify frailty and sarcopenia tools applied in spinal oncology and appraise their clinimetric properties.

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Study Design: Systematic review.

Objective: In patients with extradural metastatic spine disease, we sought to systematically review the outcomes and complications of patients with intermediate Spinal Instability Neoplastic Score (SINS) lesions undergoing radiation therapy, percutaneous interventions, minimally invasive surgeries, or open spinal surgeries.

Methods: Following PRISMA guidelines for systematic reviews, MEDLINE, EMBASE, Web of Science, the Cochrane Database of Systematic Reviews and the Cochrane Center Register of Controlled Trials were queried for studies that reported on SINS intermediate patients who underwent: 1) radiotherapy, 2) percutaneous intervention, 3) minimally invasive, or 4) open surgery.

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Neonatal seizures require urgent treatment, but often go undetected without expert EEG monitoring. We have developed and validated a seizure detection model using retrospective EEG data from 332 neonates. A convolutional neural network was trained and tested on over 50,000 hours (n = 202) of annotated single-channel EEG containing 12,402 seizure events.

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Purpose: This study aimed at comparing the costs of spinal fusion surgery between patients with and without diabetes.

Methods: Following PRISMA guidelines, a systematic search of four databases was conducted. A meta-analysis was performed on comparative studies examining diabetic versus non-diabetic adults undergoing cervical/lumbar fusion in terms of cost.

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The organizational principles of nephronal segments are based on longstanding anatomical and physiological attributes that are closely linked to the homeostatic functions of the kidney. Novel molecular approaches have recently uncovered layers of deeper signatures and states in tubular cells that arise at various timepoints on the spectrum between health and disease. For example, a dedifferentiated state of proximal tubular cells with mesenchymal stemness markers is frequently seen after injury.

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Objective: Many studies have compared outcomes following anterior and posterior cervical fusion, yet the differences in the impacts of perioperative complications on outcomes have not been well studied. This study aimed to assess the differences in the effects of 30-day perioperative complications on patient-reported outcome measures (PROMs) after multilevel anterior versus posterior cervical fusion.

Methods: Adult patients who underwent anterior or posterior cervical fusion at three or more levels between 2014 and 2020 were analyzed.

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Article Synopsis
  • * Out of 31 patients, 55% showed a significant drop in tumor activity (major pathologic response), along with increased immune cell presence in the tumors.
  • * Findings indicate that this combination therapy not only activates various immune responses but is also linked to specific genetic markers in immune cells and changes in gut microbiota, suggesting potential pathways for enhancing treatment outcomes.
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The present study was designed to test the potential utility of regional cerebral oxygen saturation (rcSO) in detecting term infants with brain injury. The study also examined whether quantitative rcSO features are associated with grade of hypoxic ischaemic encephalopathy (HIE). We analysed 58 term infants with HIE (>36 weeks of gestational age) enrolled in a prospective observational study.

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Introduction: Recent technological advancements allowed the development of engaging technological tools. Using ASN funding from the ASN, we developed a 3D Virtual Reality (VR) physiology course entitled DiAL-Neph (Diuretic Action and eLectrolyte transport in the Nephron). We hereby present its evaluation.

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Article Synopsis
  • Xp11 translocation renal cell carcinoma (tRCC) is a rare cancer that mostly affects females and is caused by a fusion of the TFE3 gene on chromosome X with other genes.
  • The study explores how TFE3 fusions occur through rearrangements and whether these fusions arise from the active or inactive X chromosomes, shedding light on tRCC's female predominance.
  • Findings show that TFE3 fusions are typically due to reciprocal translocations and that specific translocations involving the inactive X chromosome contribute to the higher incidence of tRCC in females, revealing important insights into cancer genetics and sex differences.
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Unlabelled: While spermatogenesis has been extensively characterized in the model system, very little is known about the genes required for fly sperm entry into eggs. We identified a lineage-specific gene, which we named ( ), that is required for efficient fertilization. Males that do not express produce and transfer sperm that are stored normally in females, but sperm from these males enter eggs with severely reduced efficiency.

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Electroencephalography (EEG) is a key objective biomarker of newborn brain function, delivering critical, cotside insights to aid the management of encephalopathy. Access to continuous EEG is limited, forcing reliance on subjective clinical assessments. In hypoxia ischaemia, the primary cause of encephalopathy, alterations in EEG patterns correlate with.

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Objective: This study evaluates the impact of L4-L5 minimally invasive surgery (MIS)- transforaminal lumbar interbody fusion (TLIF) on adjacent-level parameters.

Methods: This is a retrospective study performed on consecutive patients between January 2015 and December 2019. The index- and adjacent-level segmental lordosis (SL) and disc angle (DA) were measured.

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Renal cell carcinoma with sarcomatoid differentiation (sRCC) is associated with poor survival and a heightened response to immune checkpoint inhibitors (ICIs). Two major barriers to improving outcomes for sRCC are the limited understanding of its gene regulatory programs and the low diagnostic yield of tumor biopsies due to spatial heterogeneity. Herein, we characterized the epigenomic landscape of sRCC by profiling 107 epigenomic libraries from tissue and plasma samples from 50 patients with RCC and healthy volunteers.

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Background: Diabetes is expected to directly impact renal glycosylation, yet to date, there has not been a comprehensive evaluation of alterations in N-glycan composition in the glomeruli of patients with diabetic kidney disease (DKD).

Methods: We used untargeted mass spectrometry imaging to identify N-glycan structures in healthy and sclerotic glomeruli in FFPE sections from needle biopsies of five patients with DKD and three healthy kidney samples. Regional proteomics was performed on glomeruli from additional biopsies from the same patients to compare the abundances of enzymes involved in glycosylation.

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Background And Objectives: Studies have demonstrated increased risk of adjacent segment disease (ASD) after open fusion with adjacent-level laminectomy, with rates ranging from 16%-47%, potentially related to disruption of the posterior ligamentous complex. Minimally invasive surgical (MIS) approaches may offer a more durable result. We report institutional outcomes of simultaneous MIS transforaminal lumbar interbody fusion (MISTLIF) and adjacent-level laminectomy for patients with low grade spondylolisthesis and ASD.

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Background: Mycobacterium xenopi is a common nontuberculous Mycobacterium (NTM) that is slow growing and an infrequent cause of infection. When infections do occur, it is by exposure to contaminated soil or water or to infectious aerosols. Nontuberculous mycobacterial infections in the spine are exceedingly rare.

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Eosinophilic gastritis is a rare type of eosinophilic gastrointestinal diseases. Patients with eosinophilic gastritis usually present with symptoms such as nausea, emesis, abdominal pain, and weight loss. In severe cases, patients can suffer rare complications such as gastric outlet obstruction and spontaneous perforation.

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