- Glioma Diagnosis and Treatment
- Renal Diseases and Glomerulopathies
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Electron Spin Resonance Studies
- Chronic Kidney Disease and Diabetes
- Cerebrovascular and Carotid Artery Diseases
- Mitochondrial Function and Pathology
- Metal-Catalyzed Oxygenation Mechanisms
- Brain Metastases and Treatment
- Colorectal Cancer Screening and Detection
- Meningioma and schwannoma management
- Hepatocellular Carcinoma Treatment and Prognosis
- Medical Imaging and Pathology Studies
- Neuroblastoma Research and Treatments
- Cardiovascular Health and Disease Prevention
- Carbohydrate Chemistry and Synthesis
- Pancreatic and Hepatic Oncology Research
- Renin-Angiotensin System Studies
- CNS Lymphoma Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Protein Tyrosine Phosphatases
- Global Cancer Incidence and Screening
- Cancer Mechanisms and Therapy
- Ion Transport and Channel Regulation
Duke Medical Center
2016-2025
King's College London
2025
Duke University Hospital
2014-2023
Duke University
2014-2023
Cambridge University Hospitals NHS Foundation Trust
2023
University of California, San Diego
2021-2022
Trinity College Dublin
2020-2021
Durham Technical Community College
2021
Vatican Secret Archives
2021
Grammar School
2021
Abstract As SARS-CoV-2 continues to spread and evolve, detecting emerging variants early is critical for public health interventions. Inferring lineage prevalence by clinical testing infeasible at scale, especially in areas with limited resources, participation, or and/or sequencing capacity, which can also introduce biases 1–3 . RNA concentration wastewater successfully tracks regional infection dynamics provides less biased abundance estimates than 4,5 Tracking virus genomic sequences...
Epidermal growth factor receptor (EGFR) is frequently overexpressed in hepatocellular carcinoma, but its relationship with EGFR gene copy number has not been studied. This study examined expression and carcinoma evaluated their to clinicopathologic features 76 tumors. Moderate strong of was observed by immunohistochemical analysis 50 (66%) carcinomas. Fluorescence situ hybridization (FISH) showed extra copies 17 (45%) 38 accompanied gains chromosome 7, indicating that this the result...
31.12.13).Chi squared analysis was used to compare the rate between two groups and of false negative (FN) minimal signs (MS) categories considered together. ResultsOf 87,868 screened before digital 1.1.10and 31.12.11,103 developed IC (0.12%) 100,672 with 1.1.12and 31.12.13,145 (0.14%) (p = 0.12).Those women FN MS interval cancer numbered 17 (16.5%)predigital 41 (28.3%) digital; 0.04).The number true similar in pre (49.5%) post (46.9%) groups. ConclusionThe if is NHSBSP standard (1.2 per 1000...
Abstract Post-zygotically acquired genetic variants, or somatic that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations development. Pathogenic variants been identified in many genes within the PI3K-AKT-mTOR-signalling pathway individuals with hemimegalencephaly and dysplasia (type II), more recently SLC35A2 I) non-dysplastic epileptic cortex. Given expanding role across different brain malformations, we sought...
In a wide array of kidney diseases, type 1 angiotensin (AT1) receptors are present on the immune cells that infiltrate renal interstitium. Here, we examined actions AT1 macrophages in progressive fibrosis and found macrophage-specific receptor deficiency exacerbates induced by unilateral ureteral obstruction (UUO). Macrophages isolated from obstructed kidneys mice lacking solely had heightened expression proinflammatory M1 cytokines, including IL-1. Evaluation receptor–deficient confirmed...
Cranial irradiation is a standard therapy for primary and metastatic brain tumors. A major drawback of radiotherapy (RT), however, long-term cognitive loss that affects quality life. Radiation-induced oxidative stress in normal tissue thought to contribute decline. We evaluated the effectiveness novel mimic superoxide dismutase enzyme (SOD), MnTnBuOE-2-PyP(5+)(Mn(III) meso-tetrakis(N-n-butoxyethylpyridinium-2-yl)porphyrin), provide neuroprotection following 8 Gy whole irradiation. Long-term...
Abstract Background Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that underlying pathology leading to tissue damage enlargement and rupture glycogen-filled lysosomes. Recent studies have also implicated autophagy, intracellular lysosome-dependent degradation system, in pathogenesis. In this study, we characterize long-term impact replacement therapy (ERT) with...
Familial forms of focal segmental glomerulosclerosis (FSGS) have been linked to gain-of-function mutations in the gene encoding transient receptor potential channel C6 (TRPC6). GPCRs coupled Gq signaling activate TRPC6, suggesting that Gq-dependent TRPC6 activation underlies glomerular diseases. Here, we developed a murine model which constitutively active α subunit (Gq(Q209L), referred herein as GqQ>L) is specifically expressed podocytes and examined effects this mutation response puromycin...
The cascade that culminates in macrometastases is thought to be mediated by phenotypic plasticity, including epithelial–mesenchymal and mesenchymal–epithelial transitions (EMT MET). Although there substantial support for the role of EMT driving cancer cell invasion dissemination, much less known about importance MET later steps metastatic colonization. We created novel reporters, which integrate transcriptional post-transcriptional regulation, test whether required metastasis multiple vivo...
Abstract Background Food additive emulsifiers result in bacterial dysbiosis, reduced intestinal mucus thickness, microbiota encroachment and increased permeability resulting inflammation murine models. Dietary intervention trials inflammatory bowel disease are limited by challenges with blinding, high placebo response rates because changes to one diet component impact on intake of many others (dietary collinearity). The ADDapt trial aimed investigate the effects a low emulsifier (LED)...
Natriuretic peptides (NPs) bind to glomerular podocytes and attenuate injury. The beneficial effects of NPs are negatively regulated by the NP clearance receptor (NPRC), which is highly expressed in podocytes. To determine if inhibiting NPRC podocyte protective, we examined deleting both cultured vivo. We found that: 1.Both atrial C-type inhibit apoptosis podocytes, but these protective significantly attenuated cells expressing NPRC, 2. Atrial was more effective than CNP at apoptotic...
Prior to their provisional WHO classification as a distinct entity in 2016, diffuse leptomeningeal glioneuronal tumors (DLGNT) were often regarded presentations of oligodendrogliomas or extraventricular neurocytomas. Their partly relies on pattern growth, but DLGNTs without radiological involvement have been described. In patient with DLGNT the spinal cord evidence involvement, we review depth clinical course and histologic molecular features neoplasm, context other reported cases...
Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) skeletal muscle. We have previously demonstrated the benefit of increased CI-MPR-mediated uptake recombinant human acid-α-glucosidase during ERT mice with following addition albuterol therapy. Currently we completed a pilot study patients late-onset already on >2 yr, who were...
A vestibular schwannoma (VS) is a benign tumor of the VIIIth cranial nerve that can often be treated by microsurgery or radiosurgery and demonstrates high control rates. Radiosurgery typically performed as gamma knife surgery (GKS), although other modalities are being applied with increasing frequency. differentiating feature in responsiveness to GKS whether VS cystic solid. less responsive than solid VS, representing challenging clinical problem. treatment usually results sustained...
Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated disease (GSD), Danon disease, infantile-onset Pompe (GSD II), GSD III, IV, and phosphofructokinase deficiency (Tarui or VII). We present a 35-year-old female who presented cardiomyopathy after pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first at age 33. One week postpartum, she developed dyspnea an...
Due to its cardiovascular effects sedentary behaviour might impact cerebrovascular function in the long term, affecting regulatory mechanisms and perfusion levels. Consequently this could underly potential structural brain abnormalities associated with cognitive decline. We therefore assessed association between measures of community-dwelling older adults. Using accelerometery (GENEActiv) data from The Irish Longitudinal Study on Ageing (TILDA) we categorised individuals by low-...