Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation.

The term hemochromatosis refers to a group of genetic disorders characterized by hepcidin insufficiency in the context of normal erythropoiesis, iron hyperabsorption, and expansion of the plasma iron pool with increased transferrin saturation, the diagnostic hallmark of the disease. This results in the formation of toxic non-transferrin-bound iron, which ultimately accumulates in multiple organs, including the liver, heart, endocrine glands, and joints. The most common form is HFE-hemochromatosis (HFE-H) due to p.

How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.

Background: Fabry disease (FD) is a multisystem, monogenic, X-linked storage disorder caused by mutations in the GLA gene, resulting in reduced alfa-galactosidase A enzyme activity. This effect leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide, in various tissues, including the heart, kidney, vasculature, smooth muscle, and peripheral nervous system. Hemizygous males are usually more severely affected than females, in whom random inactivation of an X chromosome may lead to variable phenotype.

Anemia in patients receiving anticancer treatments: focus on novel therapeutic approaches.

Anemia is common in cancer patients and impacts on quality of life and prognosis. It is typically multifactorial, often involving different pathophysiological mechanisms, making treatment a difficult task. In patients undergoing active anticancer treatments like chemotherapy, decreased red blood cell (RBC) production due to myelosuppression generally predominates, but absolute or functional iron deficiency frequently coexists.

Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.

Background: Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized in Europe at a standard dose of 1.0 mg/kg intravenously every other week at an initial infusion rate of ≤ 0.

Use of non-invasive respiratory supports in high-intensity internal medicine setting during the first two waves of the COVID-19 pandemic emergency in Italy: a multicenter, real-life experience.

During the first two waves of the COVID-19 emergency in Italy, internal medicine high-dependency wards (HDW) have been organized to manage patients with acute respiratory failure (ARF). There is heterogeneous evidence about the feasibility and outcomes of non-invasive respiratory supports (NIRS) in settings outside the intensive care unit (ICU), including in patients deemed not eligible for intubation (i.e.

Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol.

Fabry disease (FD) is a rare genetic disorder caused by a deficiency in the α-galactosidase A enzyme, which results in the globotriaosylceramide accumulation in many organs, including the kidneys. Nephropathy is a major FD complication that can progress to end-stage renal disease if not treated early. Although enzyme replacement therapy and chaperone therapy are effective, other treatments such as ACE inhibitors and angiotensin receptor blockers can also provide nephroprotective effects when renal damage is also established.

The role of hypoxia and inflammation in the regulation of iron metabolism and erythropoiesis in COVID-19: The IRONCOVID study.

Coronavirus Disease (COVID-19) can be considered as a human pathological model of inflammation combined with hypoxia. In this setting, both erythropoiesis and iron metabolism appear to be profoundly affected by inflammatory and hypoxic stimuli, which act in the opposite direction on hepcidin regulation. The impact of low blood oxygen levels on erythropoiesis and iron metabolism in the context of human hypoxic disease (e.

Red Blood Cell Morphologic Abnormalities in Patients Hospitalized for COVID-19.

Peripheral blood smear is a simple laboratory tool, which remains of invaluable help for diagnosing primary and secondary abnormalities of blood cells despite advances in automated and molecular techniques. Red blood cells (RBCs) abnormalities are known to occur in many viral infections, typically in the form of mild normo-microcytic anemia. While several hematological alterations at automated complete blood count (including neutrophilia, lymphopenia, and increased red cell distribution width-RDW) have been consistently associated with severity of COVID-19, there is scarce information on RBCs morphological abnormalities, mainly as case-reports or small series of patients, which are hardly comparable due to heterogeneity in sampling times and definition of illness severity.

Assessment of SARS-CoV-2 IgG and IgM antibody detection with a lateral flow immunoassay test.

The dramatic impact of SARS-CoV-2 infection on the worldwide public health has elicited the rapid assessment of molecular and serological diagnostic methods. Notwithstanding the diagnosis of SARS-CoV-2 infection is based on molecular biology approaches including multiplex or singleplex real time RT-PCR, there is a real need for affordable and rapid serological methods to support diagnostics, and surveillance of infection spreading. In this study, we performed a diagnostic accuracy analysis of COVID-19 IgG/IgM rapid test cassette lateral flow immunoassay test (LFIA) assay.

Iron metabolism in infections: Focus on COVID-19.

Iron is a micronutrient essential for a wide range of metabolic processes in virtually all living organisms. During infections, a battle for iron takes place between the human host and the invading pathogens. The liver peptide hepcidin, which is phylogenetically and structurally linked to defensins (antimicrobial peptides of the innate immunity), plays a pivotal role by subtracting iron to pathogens through its sequestration into host cells, mainly macrophages.

Augmented Repair of Large to Massive Delaminated Rotator Cuff Tears With Autologous Long Head of the Biceps Tendon Graft: The Arthroscopic "Cuff-Plus" Technique.

An anatomic and tension-free repair is the goal of arthroscopic rotator cuff repair. However, this purpose is not always achievable in large and massive tears, and sometimes, even when intraoperative results seem acceptable, clinical and radiologic outcomes can be disappointing shortly afterward. Superior capsule reconstruction has been claimed as a valid and viable joint-preserving option for treating irreparable rotator cuff tears.

Arthroscopic Superior Capsule Reconstruction With Doubled Autologous Semitendinosus Tendon Graft.

Massive and irreparable rotator cuff tears remain a difficult condition to treat. Fatty infiltration of the muscles and excessive retraction of the tendons predispose to high failure rates of arthroscopic repair techniques. In recent years, studies on the superior capsule have shown that it plays a key role in reducing superior humeral head translation and restoring balance to the force couples required for dynamic shoulder function.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. The prototype is non-transfusion dependent ß-thalassemia (NTDT), with other entities including congenital sideroblastic anemias, congenital dyserythropoietic anemias, some hemolytic anemias, and myelodysplastic syndromes. Differential diagnosis of iron loading anemias may be challenging due to heterogeneous genotype and phenotype.

Anatomic reconstruction of the coracoclavicular and acromioclavicular ligaments with semitendinosus tendon graft for the treatment of chronic acromioclavicular joint dislocation provides good clinical and radiological results.

Purpose: To evaluate clinical and radiographic outcomes of anatomical reconstruction of the coracoclavicular and acromioclavicular ligaments with single-strand semitendinosus tendon graft for the treatment of chronic acromioclavicular joint dislocation.

Methods: Patients affected by chronic type III-V acromioclavicular joint dislocations were included. Exclusion criteria were: age under 18 years, concomitant rotator cuff tears, previous surgery to the same shoulder, degenerative changes of the glenohumeral joint, infections, neurologic diseases, patients with a previous history of ligament reconstruction procedures that had required harvesting of the semitendinosus tendon from the ipsilateral or contralateral knee.

Deep vein thrombosis in SARS-CoV-2 pneumonia-affected patients within standard care units: Exploring a submerged portion of the iceberg.

• An association between COVID-19 and venous thromboembolism (VTE) is now recognized. • The prevalence of VTE is high in COVID-19 patients hospitalized in standard care units. • The prevalence of VTE is high even though thromboprophylaxis and in patients estimated at low risk.

Cytomegalovirus-Induced Gastrointestinal Bleeding and Pancreatitis Complicating Severe Covid-19 Pneumonia: A Paradigmatic Case.

COVID-19 is a new pandemic disease whose pathophysiology and clinical description are still not completely defined. Besides respiratory symptoms and fever, gastrointestinal (GI) symptoms (including especially anorexia, diarrhea, and abdominal pain) represent the most frequent clinical manifestations. Emerging data point out that severe SARS-CoV-2 infection causes an immune dysregulation, which in turn may favor other infections.

Biologic and synthetic ligament reconstructions achieve better functional scores compared to osteosynthesis in the treatment of acute acromioclavicular joint dislocation.

Purpose: To systematically review the outcomes of surgical treatments of acute acromioclavicular joint dislocation.

Methods: Studies were identified by electronic databases (Ovid, PubMed). All studies reporting functional and radiological outcomes of surgical treatments of acute acromioclavicular joint dislocations were included.

Cobalamin Deficiency in the Elderly.

Older people are at risk for cobalamin (vitamin B) deficiency because of a number of common disorders (e.g., autoimmune gastritis) and drugs (e.

Practical implications of the 2019 Nobel Prize in Physiology or Medicine: from molecular adaptation to hypoxia to novel anti-anemic drugs in the clinic.

The 2019 Nobel Prize for Medicine or Physiology was assigned to three prestigious physician-scientists, Gregg L. Semenza, William G. Kaelin, and Peter J.

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. The disease is caused by mutations in the Ceruloplasmin () gene that produce a strong reduction or absence of ceruloplasmin ferroxidase activity, leading to an impairment of iron metabolism. Most patients described so far are from Japan.