Publications by authors named "Pradyumna Phatak"

Cancer is characterized by increased metabolic activity and vascularity, leading to temperature changes in cancerous tissues compared to normal cells. This study focused on patients with abnormal mammogram findings or a clinical suspicion of breast cancer, exclusively those confirmed by biopsy. Utilizing an ultra-high sensitivity thermal camera and prone patient positioning, we measured surface temperatures integrated with an inverse modeling technique based on heat transfer principles to predict malignant breast lesions.

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A 58-year-old female was found to have hyperferritinemia (Serum ferritin:1683 ng/mL) during work-up for mild normocytic anemia. Transferrin saturation(TSAT) was low-normal. Magnetic resonance imaging (MRI) abdomen showed evidence of hepatic iron deposition.

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Background: Patients with p.C282Y homozygous (p.C282Y) mutations are more likely to develop hemochromatosis (HC) than p.

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Background: With the rise of hospital medicine, care has become fragmented between inpatient and outpatient settings. Having primary care physicians (PCPs) consult on their admitted patients through televisits could improve patient and hospital outcomes, but perspectives on this model are unknown in adult hospital medicine.

Methods: A single-center cross-sectional survey was conducted to compare PCP and hospitalist attitudes regarding PCP telemedicine consultation for admitted patients in a large US academic hospital.

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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 in high false positives from screening.

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Introduction And Aim: We sought to identify independent risk factors for cirrhosis in HFE p.C282Y homozygotes in a cross-sectional study.

Material And Methods: We evaluated 368 p.

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Epstein Barr virus (EBV) is well known to cause different types of malignancies. In immunocompromised patients, such as those infected with human immunodeficiency virus (HIV), there is a higher likelihood of EBV related malignant transformation. Diagnosis of EBV related malignancies may be difficult and sometimes requires clinical and pathological correlation.

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Background: GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores.

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Patients with myelodysplastic syndromes (MDS) differ from those with other transfusion-dependent conditions (eg, thalassemia) as they are typically older, have comorbid conditions, and a generally shorter life expectancy. The underlying disease process in MDS and frequent use of red blood cell transfusions lead to iron accumulation and ultimately organ damage. Whether iron-reducing interventions such as chelation therapy can improve outcomes in this population is currently under investigation.

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Article Synopsis
  • Researchers conducted exome sequencing on 35 male HFE C282Y homozygotes to explore genetic factors influencing iron overload severity, distinguishing between those with high and normal iron levels.
  • A significant association was found with a variant in the GNPAT gene, particularly the p.D519G polymorphism, which was present in 16 out of 22 individuals with severe iron overload, while absent in controls.
  • Further studies indicated that reduced GNPAT expression led to decreased levels of hepcidin, a hormone crucial for iron regulation, suggesting a potential link between GNPAT and iron metabolism.
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Unlabelled: Hereditary hemochromatosis (HH) is characterized by increased intestinal iron absorption that may result in iron overload. Although phlebotomy is widely practiced, it is poorly tolerated or contraindicated in patients with anemias, severe heart disease, or poor venous access, and compliance can vary. The once-daily, oral iron chelator, deferasirox (Exjade) may provide an alternative treatment option.

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Deferasirox is a once-daily, orally administered, tridentate iron chelator that is indicated in the treatment of iron overload resulting from regular packed red blood cell transfusions in patients with transfusion-dependent anemias, such as beta-thalassemia, sickle cell disease, myelodysplastic syndrome and other rare anemias. Randomized, controlled trials have established its efficacy to reduce liver iron concentration and serum ferritin levels to be comparable to the historic standard iron chelator, deferoxamine, which is administered as a parenteral infusion. However, deferasirox may be more effective than deferoxamine in actual clinical practice owing to the improvement in quality of life and, hence, increased compliance associated with the oral route of administration.

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Objective: There are limited data comparing hepatic phenotype among hemochromatosis patients with different HFE genotypes. The goal of this study was to compare hepatic histopathologic features and hepatic iron concentration (HIC) among patients with phenotypic hemochromatosis and different HFE genotypes.

Methods: We studied 182 US patients with phenotypic hemochromatosis.

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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 are limited.

Methods: This was a retrospective, case-control study to assess the association between exposure to transfusions and complications of iron overload in patients with MDS and other hematopoietic disorders using a large US health-insurance claims database spanning 1997-2004.

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The discovery of the HFE gene in 1996 heralded a decade of major advances in the understanding of the mechanisms that control iron absorption and body iron stores. A genetic definition of the common form of hereditary hemochromatosis became possible, and testing for the common causative HFE mutations is now widely available in clinical laboratories. Several population screening studies have confirmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously believed, making universal population-based screening for this disorder unattractive.

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How often elevated serum ferritin in primary-care patients reflects increased iron stores (normally 0.8 g in men, 0.4 g in women) is not known.

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Acquired clonal chromosome X aberrations, whether numerical or structural, as the sole chromosomal anomaly in acute myeloid leukemia (AML) are very uncommon. The scarcity of nonconstitutional chromosome X aberrations detected in AML has prevented any meaningful evaluation of their prognostic significance. In this report, we describe the case of a patient with AML who had the unusual acquired karyotype of 45,X/-X,46,X,i(X)(q10) on presentation and 45,X,-X,add(19)(p13.

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