Study of DNA methyl transferase 3A mutation in acute myeloid leukemic patients

Background: Recent studies have shown that somatic mutations in DNA methyltransferase (DNMT3A) might affect the prognosis of AML.Objective: The aim of this work was to investigate the frequency and prognostic impact of the most frequent mutation of DNMT3A, R882H mutation in AML using simple and rapid molecular techniques.Patients and methods: We have used allele-specific blocker (ASB-PCR) and endonuclease restriction for the detection of DNMT3A R882H mutation in 56 adult patients with AML.Results: DNMT3A R882H mutation was detected in 7/56 (12.5%) of patients. R882H mutation positive patients were older compared to the wild-type AML (p = 0.08). No association was found with initial laboratory parameters including white blood cells (WBC), hemoglobin (HGB) and Bone marrow (BM) blasts (p > 0.05). Thirty-two patients (57.1%) achieved complete remission (CR), 11/56 (19.6%) died before day 28 induction death (ID) and 13/56 (23.2%) had resistant disease (RD). DNMT3A R882H positive patients were not different regarding the response to induction chemotherapy (CR) compared to the negative group (wild-type) (p > 0.05). Median follow-up period for all patients was 1.6 months, Overall survival (OS) was 65%, and the median was 9.89 months. OS of DNMT3A positive patients was not statistically significant compared to wild-type patients (p = 0.09). Disease free survival (DFS) was 54.6% for all patients, with no difference between wild and mutants (0.59) patients.Conclusion: DNMT3A R882H is a frequent mutation in adult de novo AML. The frequency of the mutation tends to increase with age. The two methods used in the study are easy to interpret and are recommended for rapid detection of the mutation required for risk stratification.Keywords: AML, DNMT3A, ASB-PCR, PCR-RFLP, Endonuclease restrictio

Sudden-onset Hypoglycemia Following Fluid Replacement in a Patient with Dapagliflozin-induced Diabetic Ketoacidosis Without Prior Insulin Use: Case Report

Euglycemic diabetic ketoacidosis (DKA) is a known complication of sodium-glucose co-transporter 2 (SGLT-2) inhibitors that have been reported in the literature. The prevalence of this side effect is growing and the exact mechanism of action on why this happens is unknown. Hypoglycemia events are very rare in diabetic patients using SGLT-2 inhibitors and/or metformin when they have normal kidney function. We report a novel complication of hypoglycemia that occurred during the course of treatment of SGLT2 inhibitor-induced DKA in a patient with type 2 diabetes mellitus (T2DM) on the dapagliflozin-metformin combination.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Updates on Technology for Diabetes Mellitus

Purpose of Review To update the medical community on the new and old technologies use for the control and management of diabetes mellitus. Recent Findings Diabetes technology is defined as the different technology including hardware, devices, and software that are used by diabetic patients in order to help to manage blood glucose levels. This technology can be used in patients with any type of diabetes mellitus and, when applied appropriately, it can have a significant impact on these patients' health. They can be divided into different insulin delivery methods, blood glucose monitoring, and hybrid and implantable devices. Insulin delivery can be further subdivided into insulin pens, insulin syringes, or insulin delivery via a pump. New technology includes a bionic or "artificial" pancreas that has been introduced. This is an external device or system of devices that mimic the glucose regulating the function of a healthy pancreas. It is essential to deeply understand the use of each of the devices so you can recommend the best one that fits your patient.12 month embargo; published online: 10 February 2020This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

An Unusual Benign Cause of an Alarming Finding on Chest-X ray: A Case Report of Widened Mediastinum due to Rare Congenital Abnormality (Azygos Vein Continuation of Inferior Vena Cava)

Acute widened mediastinum is an alarming finding. It has many possible differential diagnoses; aortic dissection (AD) is considered one that carries catastrophic outcomes. AD is relatively uncommon; it requires early and accurate diagnosis and treatment for better patient survival. However, acute mediastinal widening also can be present in more benign conditions. We report a case of a 50-year-old African American female with postoperative shortness of breath; initial imaging studies revealed an acute widened mediastinum, but on further management with diuresis and follow-up imaging, she was diagnosed with azygous vein continuation of the Inferior vena cava (IVC). This is considered as a rare benign cause of wide mediastinum. Clinicians must be aware of the presence of such a benign cause when dealing with acute wide mediastinum

Isolated Adrenocorticotropic Hormone Deficiency Secondary to Chronic Opiate Use

Although opiate use can result in various endocrine disorders, isolated adrenocorticotropic hormone (ACTH) deficiency resulting in secondary adrenal insufficiency remains uncommon. We present a case of a 54-year-old woman with a history of chronic opiate use who presented with a four-month history of worsening fatigue and syncopal episodes. Laboratory workup revealed a low ACTH with low baseline cortisol and normal levels of rest of the anterior pituitary hormones. The imaging study did not reveal any pituitary abnormality. The patient was diagnosed with opiate-induced isolated ACTH deficiency. Her symptoms improved after treatment with hydrocortisone. This case would further improve clinician's awareness towards opiate-induced endocrinopathies, including isolated ACTH deficiency, which can present with nonspecific signs and symptoms, creating a diagnostic challenge.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Tyrosine Kinase Inhibitors' Newly Reported Endocrine Side Effect: Pazopanib-Induced Primary Adrenal Insufficiency in a Patient With Metastatic Renal Cell Cancer

Tyrosine kinase inhibitors (TKIs) have been used in the treatment of multiple types of cancer. Pazopanib is one of the TKIs and is considered a first-line treatment for adult patients with metastatic renal cell carcinoma. Many endocrine-related adverse effects have been noted with the use of TKIs including hypothyroidism, vitamin D deficiency, altered bone density, secondary hyperparathyroidism, abnormal glucose metabolism, gynecomastia, and hypogonadism. Subclinical glucocorticoid deficiency and adrenal insufficiency have been reported with the use of TKIs in only a few cases so far; thus, its true prevalence and clinical significance have yet to be fully elucidated. The mechanism is still not fully understood; however, adrenal toxicity with hemorrhage and/or necrosis of the adrenal glands has been observed in studies. In this article, we describe the first reported case of pazopanib inducing primary adrenal insufficiency in a patient with metastatic renal cell carcinoma diagnosed after the exclusion of all other causes of primary adrenal insufficiency.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Right Atrial Fibroelastoma Presenting as Typical Atrial Flutter: Rare Disease in Unusual Location

Typical atrial flutter as initial presentation of papillary fibroelastoma involving the cavotricuspid isthmus is not described before in literature. To our knowledge only 14 cases have been reported in literature involving the right atrium. Very unusual location is at the junction between inferior vena cava (IVC) and right atria as only 1 case has been reported

Simple Reason for Hypoglycemia: ACE Inhibitor-induced Severe Recurrent Hypoglycemia in a Nondiabetic Patient

Angiotensin-converting enzyme (ACE) inhibitors are among the most common medications used to treat patients with concomitant diabetes and hypertension. They are considered the first line of treatment for hypertension in this population. Several case studies have reported that ACE inhibitors can induce hypoglycemia in patients with diabetes. To our knowledge, however, ACE inhibitors have not been found to induce hypoglycemia in patients without diabetes. This report describes a patient without diabetes experiencing recurrent severe hypoglycemia induced by the ACE inhibitor lisinopril.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

The Use of 99mTc-Methoxy-isobutyl-isonitrile (sestaMIBI) Uptake on Scintigraphy (99m-STS) in Amiodarone-Induced Thyrotoxicosis: Case Series and Review of the Literature

Amiodarone is a class III antiarrhythmic drug, used by cardiologists to treat arrhythmia including atrial fibrillation (A fib) and ventricular fibrillation. However, amiodarone is associated with endocrine dysfunction including both hypo- and hyperthyroidism. In the literature, two types of amiodarone-induced thyrotoxicosis (AIT) were described: AIT-1 and AIT-2. Mixed AIT also called AIT type 3 (AIT-3) has been described in the literature when the cases do not have a typical presentation. In order to differentiate different types of AIT, various clinical, biochemical, and radiological tools have been proposed. The use of 99mTc-methoxy-isobutyl-isonitrile (sestaMIBI) uptake on scintigraphy (99m-STS) has been suggested in the literature in only few studies (no large retrospective or prospective studies have been established in the United States). We present a case series describing 5 patients presenting to the University of Arizona with AIT where we used 99m-STS to assess in diagnosis and treatment of different types of AIT followed by a review of the literature