We recently mapped the gene for ataxia-telangiectasia group A (ATA) to chromosome 11q22-23 by linkage analysis, using the genetic markers THY1 and pYNB3.12 (D11S144). The most likely order was cent-AT-S144-THY1. The present paper describes further mapping of the AT locus by means of a panel of 10 markers that span approximately 60 cM in the 11q22-23 region centered around S144 and THY1. Location scores indicate that three contiguous subsegments within the [S144-THY1] segment, as well as three contiguous segments telomeric to THY1, are each unlikely to contain the AT locus, while the more centromeric [STMY-S144] segment is most likely to contain the AT locus. These data, together with recent refinements in the linkage and physical maps of 11q22-23, place the AT locus at 11q23.

Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.

American Journal of Human Genetics

The association of chronic heart failure (CHF) and iron deficiency (ID) with or without anemia is frequently encountered in current medical practice and has a negative prognostic impact, worsening patients' exercise capacity and increasing hospitalization costs. Moreover, anemia is common in patients with chronic kidney disease (CKD) and CHF, an association known as cardio-renal anemia syndrome (CRAS) possessing a significantly increased risk of death.

This review aims to provide an illustrative survey on the impact of ID in CHF patients-based on physiopathological traits, clinical features, and the correlation between functional and absolute ID with CHF-and the benefit of iron supplementation in CHF.

We selected the most recent publications with important scientific content covering the association of CHF and ID with or without anemia.

An intricate physiopathological interplay is described in these patients-decrease in erythropoietin levels, activation of the renin-angiotensin-aldosterone system, systemic inflammation, and increases in hepcidin levels. These mechanisms amplify anemia, CHF, and CKD severity and worsen patients' outcomes.

Anemia is frequently encountered in CHF and represents a negative prognostic factor. Data from randomized controlled trials have underlined the administration of intravenous iron therapy (ferric carboxymaltose) as the only viable treatment option, with beneficial effects on quality of life and exercise capacity in patients with ID and systolic heart failure.

Role of Iron Deficiency in Heart Failure-Clinical and Treatment Approach: An Overview.

Diagnostics

As a systemic autoimmune disease, rheumatoid arthritis (RA) usually causes damage not only to joints, but also to other tissues and organs including the heart, kidneys, lungs, digestive system, eyes, skin, and nervous system. Excessive complications are closely related to the prognosis of RA patients and even lead to increased mortality. This article summarizes the serious complications of RA, focusing on its incidence, pathogenesis, clinical features, and treatment methods, aiming to provide a reference for clinicians to better manage the complications of RA.

Systemic complications of rheumatoid arthritis: Focus on pathogenesis and treatment.

Frontiers in Immunology

Long COVID is an often debilitating illness that occurs in at least 10% of severe acute respiratory syndrome coronavirus&#xa0;2 (SARS-CoV-2) infections. More than 200 symptoms have been identified with impacts on multiple organ systems. At least 65 million individuals worldwide are estimated to have long COVID, with cases increasing daily. Biomedical research has made substantial progress in identifying various pathophysiological changes and risk factors and in characterizing the illness; further, similarities with other viral-onset illnesses such as myalgic encephalomyelitis/chronic fatigue syndrome and postural orthostatic tachycardia syndrome have laid the groundwork for research in the field. In this Review, we explore the current literature and highlight key findings, the overlap with other conditions, the variable onset of symptoms, long COVID in children and the impact of vaccinations. Although these key findings are critical to understanding long COVID, current diagnostic and treatment options are insufficient, and clinical trials must be prioritized that address leading hypotheses. Additionally, to strengthen long COVID research, future studies must account for biases and SARS-CoV-2 testing issues, build on viral-onset research, be inclusive of marginalized populations and meaningfully engage patients throughout the research process.

Long COVID: major findings, mechanisms and recommendations.

Nature Reviews. Microbiology

These practice guidelines are a modular update of the "Practice guidelines for preoperative fasting and the use of pharmacologic agents to reduce the risk of pulmonary aspiration: Application to healthy patients undergoing elective procedures." The guidance focuses on topics not addressed in the previous guideline: ingestion of carbohydrate-containing clear liquids with or without protein, chewing gum, and pediatric fasting duration.

2023 American Society of Anesthesiologists Practice Guidelines for Preoperative Fasting: Carbohydrate-containing Clear Liquids with or without Protein, Chewing Gum, and Pediatric Fasting Duration-A Modular Update of the 2017 American Society of Anesthesiologists Practice Guidelines for Preoperative Fasting.

Anesthesiology

Hyponatremia is commonly encountered in the setting of heart failure, especially in decompensated, fluid-overloaded patients. The pathophysiology of hyponatremia in patients with heart failure is complex, including numerous mechanisms: increased activity of the sympathetic nervous system and the renin-angiotensin-aldosterone system, high levels of arginine vasopressin and diuretic use. Symptoms are usually mild but hyponatremic encephalopathy can occur if there is an acute decrease in serum sodium levels. It is crucial to differentiate between dilutional hyponatremia, where free water excretion should be promoted, and depletional hyponatremia, where administration of saline is needed. An inappropriate correction of hyponatremia may lead to osmotic demyelination syndrome which can cause severe neurological symptoms. Treatment options for hyponatremia in heart failure, such as water restriction or the use of hypertonic saline with loop diuretics, have limited efficacy. The aim of this review is to summarize the principal mechanisms involved in the occurrence of hyponatremia, to present the main guidelines for the treatment of hyponatremia, and to collect and analyze data from studies which target new treatment options, such as vaptans.

Management of Hyponatremia in Heart Failure: Practical Considerations.

Journal of Personalized Medicine

The wide overlap between the syndromes of chronic kidney disease and chronic heart failure means that familiarity with the 2021 European Society of Cardiology guidelines is of importance to nephrologists. The common risk factors for the two syndromes together with the adverse cardiac structural remodelling associated with chronic kidney disease means that many kidney disease patients are breathlessness and fall within the heart failure phenotypes categorised in the guidelines. The management of heart failure is evolving rapidly leading to significant changes in the latest guideline iteration. The 2021 guideline has changed from the 2016 version firstly by an increased focus on identifying the three phenotypes of heart failure to guide appropriate evidence based management. Secondly a new and simplified treatment algorithm for heart failure with reduced ejection fraction involving the rapid sequential initiation and up-titration of 4 'pillars' of drug treatment-ACE inhibitors or angiotensin-neprilysin inhibitors, beta blockers, mineralocorticoid receptor antagonists and now, thanks to convincing trial data, sodium-glucose co-transporter-2 inhibitors. Thirdly, guidelines for device therapy have been changed with down-graded advice on indications for primary prevention implantable cardioverter defibrillator therapy for patients with non-ischaemic heart failure and for cardiac resynchronisation therapy with left bundle branch block and a QRS duration&#xa0;&lt;&#xa0;150&#xa0;ms. There are updated treatment plans for heart failure associated with non-cardiovascular co-morbidities including chronic kidney disease.

Management of heart failure in patients with kidney disease - updates from the 2021 ESC guidelines.

Nephrology, Dialysis, Transplantation

The most recent International League Against Epilepsy (ILAE) classification has included "immune etiology" along with other well-known causes of epilepsy. This was possible thanks to the progress in detection of pathogenic neural antibodies (Abs) in a subset of patients, and resulted in an increased interest in identifying potentially treatable causes of otherwise refractory seizures. Most autoimmune encephalitides (AE) present with seizures, but only a minority of cases evolve to long-term epilepsy. The risk of epilepsy is higher for patients harboring Abs targeting intracellular antigens (T cell-mediated and mostly paraneoplastic, such as Hu, CV2/CRMP5, Ma2, GAD65 Abs), compared with patients with neuronal surface Abs (antibody-mediated and less frequently paraneoplastic, such as NMDAR, GABAbR, LGI1, CASPR2 Abs). To consider these aspects, conceptual definitions for two entities were provided: acute symptomatic seizures secondary to AE, and autoimmune-associated epilepsy, which reflect the different pathophysiology and prognoses. Through this manuscript, we provide an up-to-date review on the current state of knowledge concerning diagnosis and management of patients with Ab-mediated encephalitis and associated epilepsy. Special emphasis is placed on clinical aspects, such as brain magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) specificities, electroencephalographic (EEG) findings, cancer screening and suggestions for a rational therapeutic approach.

Seizures, Epilepsy, and NORSE Secondary to Autoimmune Encephalitis: A Practical Guide for Clinicians.

Biomedicines

Multiple myeloma (MM) is primarily a disease of elderly patients. Geriatric aspects in the context of MM have been poorly investigated until recently. Treatment outcomes for geriatric patients with MM are often compromised by comorbidities and an enhanced susceptibility to adverse events from therapy. Assessment of patient frailty has become more frequent and will be useful in the context of significant and continuous advances in therapy. The recent emergence of immunotherapy with CD38 monoclonal antibodies and upcoming immuno-oncology drugs, such as bispecific antibodies, will lead to additional therapeutic progress. The applicability of these new molecules to elderly and frail patients is a key clinical question. Here we present 2 patient cases derived from clinical practice. We review current frailty scores and standards of care for elderly newly diagnosed patients with MM, including frail subgroups, and discuss ways to tailor treatment as well as treatment perspectives in this population.

Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.

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Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.

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