A5085072333- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Trace Elements in Health
- Folate and B Vitamins Research
- Acute Myeloid Leukemia Research
- Infrared Thermography in Medicine
- Thermoregulation and physiological responses
- Thermography and Photoacoustic Techniques
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Erythropoietin and Anemia Treatment
- Pharmacological Effects and Toxicity Studies
- Porphyrin Metabolism and Disorders
- Retinoids in leukemia and cellular processes
- Liver Disease and Transplantation
- Acute Lymphoblastic Leukemia research
- Neurological diseases and metabolism
- Eosinophilic Disorders and Syndromes
- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Liver Disease Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Heavy Metal Exposure and Toxicity
- Metabolomics and Mass Spectrometry Studies
- Cancer-related gene regulation
Rochester General Hospital
2013-2024
Mary M. Gooley Hemophilia Center
1994-2024
Regional Health
2024
Unity Health System
2016-2024
Dr. D. Y. Patil Medical College, Hospital and Research Centre
2023
University of Rochester Medical Center
2010
GTx (United States)
2010
University Health System
2010
National University Health System
2010
University of Rochester
1988-2009
ABSTRACT The DNA of 147 patients European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations the HLA-H gene at nt 845 187. One hundred twenty-one (82.3%) were homozygous 10 (6.8%) heterozygous 845A (C282Y) mutation. All also 187C, all heterozygotes had least one copy 187C. Thus, 187 in complete linkage disequilibrium; a C on chromosomes Eight 187G(H63D). excess both suggested either presence as yet undiscovered existing trans...
Hereditary hemochromatosis (HH) is characterized by increased intestinal iron absorption that may result in overload. Although phlebotomy widely practiced, it poorly tolerated or contraindicated patients with anemias, severe heart disease, poor venous access, and compliance can vary. The once-daily, oral chelator, deferasirox (Exjade) provide an alternative treatment option. Patients HH carrying the HFE gene who were homozygous for Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL,...
To identify polymorphisms associated with variability of iron overload severity in HFE ‐associated hemochromatosis, we performed exome sequencing DNA from 35 male C282Y homozygotes either markedly increased stores (n = 22; cases) or normal mildly 13; controls). The participants, residents the United States, Canada, and Australia, reported no light alcohol consumption. Sequencing data included 82,068 single‐nucleotide variants, 10,337 genes were tested for a difference between cases controls....
Background: Despite evidence from screening studies in northern European populations, the prevalence of hemochromatosis primary care populations United States remains speculative. Objective: To establish feasibility for and to estimate a large population. Design: Cross-sectional study. Setting: 22 practices Rochester, New York, area. Patients: 16 031 ambulatory patients without previous diagnosis hemochromatosis. Intervention: Serum transferrin saturation tests were offered all adult...
Recent studies have estimated the prevalence of hereditary hemochromatosis to be 3 8 per 1000. Early detection and treatment can prevent disease manifestations normalize life expectancy. We used decision analysis techniques determine whether screening population at large for would cost-effective.We constructed a model compare cost outcome strategy performing transferrin saturation tests on cohorts 30-year old men with that awaiting symptomatic disease. Baseline estimates complication rates...
Abstract Effective treatment of breast cancer relies heavily on early detection. Routine annual mammography is a widely accepted screening technique that has resulted in significantly improving the survival rate. However, it suffers from low sensitivity resulting high false positives screening. To overcome this problem, adjunctive technologies such as ultrasound are employed about 10% women recalled for additional following mammography. These techniques still result significant number women,...
The discovery of the HFE gene in 1996 heralded a decade major advances understanding mechanisms that control iron absorption and body stores. A genetic definition common form hereditary hemochromatosis became possible, testing for causative mutations is now widely available clinical laboratories. Several population screening studies have confirmed disease penetrance HFE-related lower than previously believed, making universal population-based this disorder unattractive. However, may still...
Background: Patients with myelodysplastic syndrome (MDS) and other acquired hematopoietic disorders frequently require chronic transfusion therapy. Although red cell transfusions are known to cause iron overload, data on the risk of iron-related complications in these patients limited.Methods: This was a retrospective, case-control study assess association between exposure overload MDS using large US health-insurance claims database spanning 1997–2004. Subjects included members one or more...
Introduction and aim. We sought to identify independent risk factors for cirrhosis in HFE p.C282Y homozygotes a cross-sectional study. Material methods. evaluated 368 who underwent liver biopsy compared characteristics of those with without cirrhosis. performed multivariable logistic regression on with: age; sex; race/ ethnicity; diabetes; blood pints/units donated voluntarily; erythrocyte received; iron supplement use; alcohol intake, g/d; body mass index, kg/m2; swollen/tender 2nd/3rd...
We studied the effect of activators and inhibitors protein kinase C on actin conformation in human blood lymphocytes by flow cytometry gel electrophoresis. PMA, 1-oleyl-2-acetyl-glycerol, mezerein, C, caused an increase lymphocyte F-actin within 2 to 5 min. After stimulation with formed pseudopods containing increased concentration had Triton-insoluble cytoskeletal fraction. Sphingosine H-7, activation, inhibited induced PMA. The response PMA was striking Th Ts (2- 3-fold increase), but B...
Abstract How often elevated serum ferritin in primary‐care patients reflects increased iron stores (normally 0.8 g men, 0.4 women) is not known. The Hereditary Hemochromatosis and Iron Overload Screening (HEIRS) study screened 101,168 participants (44% Caucasians, 27% African‐Americans, 14% Asians/Pacific Islanders, 13% Hispanics, 2% others). Follow‐up clinical evaluation was performed 302 of 333 HFE C282Y homozygotes regardless measures 1,375 1,920 nonhomozygotes with >300 μg/L (men),...
There are limited data comparing hepatic phenotype among hemochromatosis patients with different HFE genotypes. The goal of this study was to compare histopathologic features and iron concentration (HIC) phenotypic genotypes.We studied 182 US hemochromatosis. Degree fibrosis, pattern deposition, presence steatosis or necroinflammation, HIC were compared genotypes.C282Y/H63D compound heterozygotes genotypes other than C282Y/C282Y more likely have stainable Kupffer cell (31.1% vs. 9.5%;...
Nine patients (10 infusions) with a confirmed diagnosis of type 3 VWD were infused von Willebrand factor (human), preparation (VWF) very low VIII content. Each patient was one dose approximately 50 or 100 iu ristocetin cofactor activity (VWF:RiCoF) per kg body weight. Bleeding times performed during the 24 h period after infusion. Plasma samples obtained over 96 infusion and analysed for coagulant (FVIIIC), VWF:RiCoF, antigen (VWF:Ag), multimers. The FVIIIC data by non-linear least-squares...
Abstract Deferoxamine mesylate (DFO) reduces morbidity and mortality associated with transfusional iron overload. Data on the utilization costs of care among U.S. patients receiving DFO in typical clinical practice are limited however. This was a retrospective study using large health insurance claims database spanning 1/97–12/04 representing 40 million members >70 plans. Study subjects ( n = 145 total, 106 sickle cell disease [SCD], 39 thalassemia) included diagnosis thalassemia or SCD,...