MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.

Background: Iron overload is observed in neurodegenerative diseases, especially Alzheimer's disease (AD) and Parkinson's disease (PD). Homozygotes for the iron-overload (haemochromatosis) causing HFE p.C282Y variant have increased risk of dementia and PD.

Investigation of the accuracy of a portableCd XRF system for the measurement of iron in skin.

We have previously reported the design of a portableCd x-ray fluorescence (XRF) system to measure iron levels in the skin of patients with either iron overload disease, such as thalassemia, or iron deficiency disease, such as anemia. In phantom studies, the system was found to have a detection limit of 1.35g Fe per g of tissue for a dose of 1.

Pseudovitelliform maculopathy associated with hereditary hemochromatosis.

Background: Hereditary hemochromatosis (HH) is an inherited autosomal recessive iron metabolism disorder resulting from a C282Y mutation in the gene. Mutations in the gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who were treated with erythrocytapheresis or phlebotomy, with no exposure to deferoxamine or any other chelation therapy, and who developed visual symptoms.

Combination of a Glissonean Approach and Indocyanine Green Fluorescence Imaging to Perform a Laparoscopic Right Anterior Sectionectomy.

Background: Laparoscopic right anterior sectionectomy (LRAS) remains a technically demanding procedure as it requires two transection planes where the middle and right hepatic veins run; however, the main difficulty is locating these two planes. The aim of this video was to show the technique of an LRAS performed with a transparenchymal glissonean pedicle approach and guided by indocyanine green (ICG) staining.

Methods: This was the case of an 80-year-old man with a history of hemochromatosis and normal liver function.

Dystrophic Calcinosis Cutis Leading to a Nonhealing Wound in a Patient with Chronic Venous Insufficiency.

The presence of bony-appearing fragments and calcifications appearing superficially in a chronic, nonhealing wound raises suspicion for osteomyelitis. When radiological imaging and tissue biopsy of the lesion return negative for osteomyelitis, however, the differentials must be widened to successfully manage and heal a chronic wound. In this report, we discuss a case of an 80-year-old morbidly obese woman with a history of chronic venous insufficiency, hereditary hemochromatosis, and squamous cell carcinoma who presented to the wound clinic with a 5-month history of a nonhealing wound with bony-appearing fragments and calcifications on her left anterior leg status postbiopsy during routine skin examination.

Case report: Ultrasonographic and computed tomographic imaging features of hemochromatosis in a dog.

A castrated male mixed-breed dog weighing 7 kg presented with elevated liver enzymes and anorexia. Abdominal radiography revealed hepatomegaly with heterogeneous hepatic opacification, and abdominal ultrasonography showed a fine echotexture and heterogeneous parenchyma concurrent with a suspected acquired portosystemic shunt. Pre-contrast computed tomography (CT) showed marked hepatomegaly with homogeneous increased liver density and multiple enlarged abdominal lymph nodes with markedly increased parenchymal density.

One Fell Swoop: Septic Muscle Embolism and Central Venous Catheter Infection Imaged with [F] Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography.

We describe the case of a 43-year-old female with hereditary hemochromatosis, previously without cardiac issues, who presented with a severe fever (>40 to 41 °C) to our hospital. Initial assessments, including transthoracic echocardiography, showed no typical signs of infective endocarditis. A contrast-enhanced CT scan revealed a hypodense area in the right subscapular muscle, alongside pleural thicknesses.

Segmental quantification of hepatic lipid content based on volumetric MRI data in patients with suspected iron overload.

Purpose: To investigate the segmental distribution of hepatic fat fraction, determined with MRI (MR proton density fat fraction, short MR-PDFF) in patients suspected of having liver iron overload.

Methods: The liver of 44 patients examined with MRI using a 3D multi-echo gradient-echo sequence was segmented semiautomatically and subdivided into nine segments (segment 4 divided in 4a and 4b). Segmental fat content was determined on MR-PDFF maps.

Severe iron overload cardiomyopathy manifested as acute myopericarditis: A case report.

Iron overload cardiomyopathy (IOC) is a condition in which iron deposition in the heart causes cardiac dysfunction. We described a 21-year-old woman who presented with acute chest pain, dyspnea, and fever. The patient had a history of transfusion-dependent thalassemia (TDT) and secondary hemochromatosis with the latest serum ferritin ranging from 8000 to 15,000.

Randall-Type Monoclonal Immunoglobulin Deposition Disease in Bone Scintigraphy.

Bone scintigraphy is recognized as a noninvasive alternative to endomyocardial biopsy for the diagnostic of wild-type (wATTR) and hereditary ATTR amyloidosis (hATTR). Light chain amyloidosis (AL), Randall-type monoclonal immunoglobulin deposition disease , sarcoidosis, hemochromatosis, Fabry disease, and mucopolysaccharidoses are differential diagnosis of ATTR amyloidosis. Bone scintigraphy allows visualization of extracardiac involvements of AL amyloidosis: pleural, retroperitoneal, liver, spleen, and soft tissue.

Clinical and genetic predictors of cardiac dysfunction assessed by echocardiography in patients with hereditary hemochromatosis.

Purpose: Hereditary hemochromatosis (HH) may cause iron deposition in cardiac tissue. We aimed to describe the echocardiographic findings in patients with HH and identify risk factors for cardiac dysfunction.

Methods: In this retrospective study, we included patients with HH who underwent transthoracic echocardiography at our tertiary care center between August 2000 and July 2022.

Beyond the Usual Suspects: Hereditary Hemochromatosis and Transaminitis in Primary Care.

An annual physical examination within a primary care setting, including evaluation of liver enzymes and abnormal serology, is incidental and often asymptomatic. Fatty liver is the most common etiology for transaminitis. Hepatobiliary imaging studies, viral hepatitis serology, evaluation of metabolic liver disease, and alcohol consumption history should be performed for transaminitis evaluation.

Quantifying microcyte and macrocyte percentages in archived red blood cell volume histogram images.

Introduction: We sought to quantify percentages of microcytes and macrocytes in archived automated hematology analyzer (AHA) red blood cell (RBC) volume histogram images.

Methods: In preliminary studies, we demonstrated that an on-line application of Gauss' area formula (SketchAndCalc™) measured percentage areas of 20 segments under a computer-generated normal distribution curve (-3.0 standard deviations [SD] to +3.

Overview of Ankle Arthropathy in Hereditary Hemochromatosis.

Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee.

T2* map at cardiac MRI reveals incidental hepatic and cardiac iron overload.

Purpose: The purpose of this study was to assess the diagnostic capabilities of cardiac magnetic resonance (CMR) T2* mapping in detecting incidental hepatic and cardiac iron overload.

Materials And Methods: Patients with various clinical indications for CMR examination were consecutively included at a single center from January 2019 to April 2023. All patients underwent T2* mapping at 1.

[Diagnosis and treatment of iron overload].

Etiological investigation of hyperferritinemia includes a full clinical examination, with the measurement of waist circumference, and simple biological tests including transferrin saturation. The classification between hyperferritinemia without iron overload (inflammation, excessive alcohol intake, cytolysis, L-ferritin mutation) or with iron overload is then relatively easy. Dysmetabolic iron overload syndrome is the most common iron overload disease and is defined by an unexplained serum ferritin level elevation associated with various metabolic syndrome criteria and mild hepatic iron content increase assessed by magnetic resonance imaging.

Low ceruloplasmin levels exacerbate retinal degeneration in a hereditary hemochromatosis model.

In a previous report, a 39-year-old patient with high serum iron levels from hereditary hemochromatosis (HH) was diagnosed with a form of retinal degeneration called bull's eye maculopathy. This is atypical for patients with HH, so it was theorized that the low serum levels of ferroxidase ceruloplasmin (CP) of this patient coupled with the high iron levels led to the retinal degeneration. CP, by oxidizing iron from its ferrous to ferric form, helps prevent the oxidative damage caused by ferrous iron.