A5014467386- Hemoglobinopathies and Related Disorders
- Systemic Sclerosis and Related Diseases
- Iron Metabolism and Disorders
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Biochemical effects in animals
- Blood groups and transfusion
- Childhood Cancer Survivors' Quality of Life
- Heme Oxygenase-1 and Carbon Monoxide
- Neonatal Health and Biochemistry
- Hematological disorders and diagnostics
- Dermatologic Treatments and Research
- Acute Myeloid Leukemia Research
- Heart Rate Variability and Autonomic Control
- Acute Lymphoblastic Leukemia research
- Pulmonary Hypertension Research and Treatments
- Skin and Cellular Biology Research
- Inflammatory Myopathies and Dermatomyositis
- Medical Imaging and Pathology Studies
- Folate and B Vitamins Research
- Inflammatory Biomarkers in Disease Prognosis
- Erythropoietin and Anemia Treatment
- Platelet Disorders and Treatments
- Pancreatic and Hepatic Oncology Research
- Inflammasome and immune disorders
Children's Hospital of Los Angeles
2017-2024
Children's Center
2017-2024
University College London
1999-2024
University of Southern California
2019-2024
The Royal Free Hospital
1999-2021
Seattle Children's Hospital
2019
Roland Hill (United Kingdom)
2019
UCL Biomedical Research Centre
2018
Dartmouth College
2014
University of Milan
2014
Abstract Background Hepatotoxicity and pancreatitis are common treatment‐related toxicities (TRTs) during contemporary treatment regimens for acute lymphoblastic leukemia (ALL). Limited detailed data from Children's Oncology Group (COG) has been previously reported to enable identification of patient risk factors these their impact on outcomes. Procedure We analyzed a retrospective pediatric ALL cohort treated at single institution according COG 2008 2015. The primary endpoint was cumulative...
Reactive oxygen species have been implicated in the pathogenesis of inflammatory and vascular disease. We undertaken a controlled trial to evaluate probucol, synthetic antioxidant, as potential therapy for Raynaud's phenomenon.The study cohort included patients with systemic sclerosis (SSc; n = 20), primary phenomenon (n 15) or 'autoimmune Raynaud's' 5). Patients were allocated receive either probucol (500 mg daily) nifedipine (20 12 weeks. Clinical biochemical variables at baseline compared...
Key Points CAR T-cell targeting of leukemic infiltrates in the optic nerve and retina caused retinal detachment as a presentation pseudoprogression. Treatment this intraocular inflammation with intravitreal triamcinolone orbital radiation led to marked improvement visual acuity.
Germline mutations in RUNX1 result autosomal dominant familial platelet disorder with associated myeloid malignancy (FPDMM). To characterize the hematopathologic features a germline mutation, we reviewed total of 42 bone marrow aspirates from 14 FPDMM patients, including 24 cases no cytogenetic clonal abnormalities, and 18 karyotypes or leukemia. We found that all aspirate smears had ≥10% atypical megakaryocytes, predominantly characterized by small forms hypolobated eccentric nuclei, high...
In sickle cell disease (SCD), prolonged capillary transit times, resulting from reduced peripheral blood flow, increase the likelihood of rigid red cells entrapment in microvasculature, predisposing to vaso-occlusive crisis. Since changes flow are mediated by autonomic nervous system (ANS), we tested hypothesis that cardiac and vascular responses head-up tilt (HUT) abnormal SCD. Heart rate, respiration, non-invasive continuous pressure finger photoplethysmogram (PPG) were monitored before,...
Alpha thalassemia is a hemoglobinopathy due to decreased production of the α-globin protein from loss up four genes, with one or two missing in trait phenotype. Individuals sickle cell disease who co-inherit genes have been known reduced risk morbid outcomes, but underlying mechanism unknown. While gene deletions affect red deformability, and are also present endothelial wall human arterioles participate nitric oxide scavenging during vasoconstriction. Decreased α-thalassemia may thereby...
Sickle cell disease (SCD) is a monogenic hemoglobinopathy associated with significant morbidity and mortality. Cardiopulmonary, vascular sudden death are the reasons for majority of young adult mortality in SCD. To better understand clinical importance multi-level dysfunction, 2009 we assessed cardiac function including tricuspid regurgitant jet velocity (TRV), tissue systole(S') diastole (E'), inflammatory, rheologic hemolytic biomarkers as predictors patients With up to 9 years follow up,...
Sickle cell anemia (SCA) affects millions of people worldwide. This genetic disease is caused by a single mutation in the β-globin gene, leading to production abnormal hemoglobin S (HbS), which polymerizes under deoxygenation. The resulting fragility and loss deformability red blood cells (RBCs) lead chronic vaso-occlusive complications. However, this basic pathophysiology description does not fully explain wide heterogeneity clinical expression disease. While role played vascular system...
Summary Kidney iron deposition measured by R2* (magnetic resonance imaging) MRI is posited to result from tubular reabsorption of filtered haemoglobin due intravascular haemolysis. In chronically transfused sickle cell disease (SCD), elevated and positively correlated with lactate dehydrogenase (LDH). To account for contributions renal systemic overload, we evaluated kidney R2*, urinary haemolysis markers in 62 non‐transfused SCD patients. On multivariate analysis, was associated LDH (R 2 =...
patient samples. Results: Luminex array profiling of the dermal blister fluid showed increased inflammatory cytokines (mean IL-6 in SSc-77.2 pg/ml, HC17.8 P1⁄40.009, mean IL-17 SSc-0.61 HC0 P1⁄40.03),and vascular growth factors (VEGF21.7 pg/ml SSc, HC13.5 (P1⁄40.26), PDGF-aa 16.4 HC-0.97 P1⁄40.049). Additionally MCP-3(CCL7), IL-15 and IFN-g were all significantly SSc compared with HC (P<0.05). Within serum, highlighted a significant increase IL-12p40 (SSc-31.7 HC-2.05 P1⁄40.012) IL-1a...
Interstitial lung disease (ILD) is the main cause of death in systemic sclerosis (SSc). The progression SSc associated ILD (SSc-ILD) highly variable, and markers predictive severe or progressive are needed to identify patients at risk. Serum levels 15 biomarkers were measured by Luminex assay ELISA, as appropriate, 189 patients. Statistical analysis was performed using STATA12. CCL18 MMP-7 significantly higher with (median: 61,886 pg/ml 1,385 pg/ml, respectively) compared without (48,486...
Background: Children treated for cancer are at risk of developing iron toxicity due to receiving red cell transfusions and myelosuppressive chemotherapy. Transfusions administered during prolonged episodes marrow suppression may increase exposure toxic, reactive forms thereby extrahepatic accumulation long-term organ damage. Objective: This study aimed evaluate the severity distribution clinically significant overload through measurement hepatic, cardiac, pancreatic, pituitary deposition in...
Abstract Background/Aims In health IgG immunoglobulins form a network through interaction with cell surface proteins and controlled by regulatory cells, whereas in autoimmune diseases responses become skewed towards higher affinity potentially damaging against self-antigens. Moreover, recent studies have demonstrated activation of the epithelial layer skin systemic sclerosis (SSc), implicating keratinocytes as target process. We investigated presence plasma autoantibodies directed sought...
Abstract Background Children treated for cancer are at risk adverse effects of iron due to transfusions administered during prolonged marrow suppression, which may increase exposure toxic forms iron, extrahepatic accumulation, and long‐term organ damage. Objective This study aimed characterize the severity distribution clinically significant, multisystem overload (IO) in an at‐risk cohort pediatric patients. Methods was a retrospective, cross‐sectional childhood patients who underwent...