Glycogen storage diseases.

Reviews in Endocrine & Metabolic Disorders

Fever is a classic reason for hospital visits, sometimes requiring admission. Its etiologies are numerous, ranging from simple and relatively common conditions to rare and complex pathologies, for which the differential diagnosis can present a true challenge for internists. A 78-year-old healthy female is referred to the emergency department due to marked fatigue for the past four months, with no other symptoms. Physical examination revealed fever, significant lower limb edema, and low blood pressure. Laboratory results revealed anemia and thrombocytopenia, associated with high ferritin and lactate dehydrogenase levels (1924 U/L and 1519 U/L, respectively) and mild hyponatremia (133 mEq/L). A thoracic-abdominal-pelvic CT scan showed only a splenomegaly of 17 cm without other significant findings. No microorganisms were found in multiple cultural samples, and fever persisted despite two courses of antibiotics. Viral serologies and zoonosis panel were negative. A bone marrow study was conducted to help explain the cytopenias, which revealed hemophagocytic cells, confirming the diagnosis of hemophagocytic syndrome. She started with systemic corticosteroid therapy, which improved her symptoms, and a few days later, it was confirmed a diffuse large B-cell lymphoma was the etiology. Because of its mostly unspecific manifestations, hemophagocytic syndrome requires a high degree of suspicion for timely diagnosis and treatment.

Fever of Unknown Origin: A Rare Diagnosis Requiring High Suspicion.

Curēus

This review article series on water and electrolyte disorders is based on the 'Electrolyte Winter Seminar' held annually for young nephrologists in Japan. The seminar features dynamic case-based discussions, some of which are included as self-assessment questions in this series. The second article in this series focuses on treatment of hyponatremia, a common water and electrolyte disorder frequently encountered in clinical practice. Hyponatremia presents diagnostic challenges due to its various etiologies and the presence of co-morbidities that affect water and electrolyte homeostasis. Furthermore, limited evidence, including a lack of robust randomized controlled trials, complicates treatment decisions and increases the risk of poor outcomes from inappropriate management of both acute and chronic hyponatremia. This review provides a comprehensive overview of treatment of hyponatremia for better comprehension and improved clinical practice.

Treatment of hyponatremia: comprehension and best clinical practice.

Clinical and Experimental Nephrology

Allergic rhinitis (AR) is a common disorder that is strongly linked to asthma and conjunctivitis. Classic symptoms include nasal congestion, nasal itch, rhinorrhea and sneezing. A thorough history, physical examination and assessment of allergen sensitization are important for establishing the diagnosis of AR. Intranasal corticosteroids and second-generation antihistamines are the mainstay of treatment. Allergen immunotherapy is an effective immune-modulating treatment for use in addition to or as an alternative to pharmacologic therapy. This article provides an overview on the pathophysiology, diagnosis, and appropriate management of AR.

Allergic rhinitis.

Allergy, Asthma, and Clinical Immunology

Recent progress has notably improved outcomes for patients with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV), namely granulomatosis with polyangiitis and microscopic polyangiitis. Since 2021, several international scientific societies have recommended rituximab (RTX) as the preferred primary treatment for maintaining remission in AAV patients. Decisions regarding retreatment with RTX are based on individual patient risk factors for disease flare-ups and the potential consequences of such flares. In reviewing available evidence and reporting our experiences at G. Bosco Hub Hospital in Turin, Italy, we explore various trials focusing on the maintenance therapy in AAV and discuss areas of unmet need.

How We Treat ANCA-Associated Vasculitis: A Focus on the Maintenance Therapy.

Journal of Clinical Medicine

Aldosterone is a key regulator of fluid and electrolyte balance in the body. It is often dysregulated in heart failure (HF) and is a key driver of cardiac remodelling and worse clinical outcomes. Potassium regulation is essential for normal cardiac, gastrointestinal and neuromuscular function. Serum potassium fluctuations are largely determined by aldosterone, the final step of the renin-angiotensin-aldosterone system. Dyskalaemia (i.e. hypokalaemia and hyperkalaemia) is prevalent in HF because of the disease itself, its therapies and related comorbidities such as chronic kidney disease. Prognostic implications of abnormal serum potassium follow a U-shaped curve, where both hypokalaemia and hyperkalaemia are associated with adverse outcomes. Hypokalaemia is associated with increased mortality, starting from potassium &lt;4.0 mmol/l but especially at potassium &lt;3.5 mmol/l. Hyperkalaemia, along with increasing arrhythmia risk, limits the use of lifesaving renin-angiotensin- aldosterone system inhibitors, which may have long-term survival implications. The advent of novel potassium binders aims to manage chronic hyperkalaemia and may allow for uptitration and optimal dosing of guideline-recommended therapy. This review discusses the impacts of dyskalaemia in HF, along with management strategies, including the relevance of potassium binder use in optimising HF treatment. Current and potential future aldosterone-modulating therapies, such as non-steroidal mineralocorticoid receptor antagonists and aldosterone synthase inhibitors, are also discussed.

Aldosterone and Potassium in Heart Failure: Overcoming This Major Impediment in Clinical Practice.

Cardiac Failure Review

Insomnia is a common and challenging complaint in older adults (&gt; 65 years) because of age-related alterations in sleep physiology. Cognitive behavioral therapy for insomnia is the gold standard for treatment of insomnia in young as well as older patients. Both clinicians and patients often prefer the simplicity of medication, but risks associated with some hypnotics increase with age. Pharmacologic options for older adults include low-dose doxepin, melatonin, ramelteon, and the dual orexin receptor antagonists. A well-informed clinician can help patients navigate the risks and benefits of both pharmacologic and behavioral options.

Insomnia in older adults: A review of treatment options.

Cleveland Clinic Journal of Medicine

Acute symptomatic seizures, occurring shortly after a central nervous system insult, constitute nearly half of all seizure cases. However, there is a conspicuous absence of clear, comprehensive, and cohesive guidelines for the management of these seizures with antiseizure medications, especially their duration of use. This lack of consensus on the optimal duration of therapy leads to prolonged treatments that may carry adverse consequences. The primary objective of this narrative review is to present the existing evidence-based literature on the management of acute symptomatic seizures within the context of the underlying pathologies that trigger them. We explore the risk of developing epilepsy for each specific etiology and identify the factors that influence this risk. Finally, to facilitate decision-making regarding treatment duration, we categorize acute seizures based on the temporal characteristics of hyperexcitability as acute, subacute, and prolonged. Such a rubric may offer clarity in an area where consensus and guidelines are lacking.

Antiseizure medication use in acute symptomatic seizures: A narrative review.

Epilepsia

Data regarding the incidence of 12-month postoperative cognitive decline following regional or general anaesthesia in older patients undergoing hip fracture surgery remain observational. Compared with general anaesthesia, we hypothesised that regional anaesthesia would decrease the incidence of 12-month postoperative cognitive decline.

This is substudy of a multicentre randomised trial of regional anaesthesia with no sedation vs. general anaesthesia with 12-month follow-up, conducted in nine university hospitals in south-eastern China. Patients aged &#x2265;&#x2009;65&#x2009;y with hip fractures requiring surgery were eligible for inclusion. The prespecified 1-year primary outcome was the incidence of postoperative cognitive decline at 12&#x2009;months post-randomisation. Secondary outcomes included major or mild postoperative cognitive decline; changes in Mini-Mental State Examination; newly developed dementia; affective status; and health-related quality of life.

We recruited 950 patients between October 2014 and September 2018 (n&#x2009;=&#x2009;474 general and n&#x2009;=&#x2009;476 regional), with the last participant interviewed in November 2019. A total of 293 patients (139 general vs. 154 regional) were included in the primary analysis of the 12-month outcome. Median (IQR [range]) age of patients was 78 (71-82 [65-96]) y and 217 (74.1%) were female. The incidence of cognitive decline at 12&#x2009;months was 29.7% vs. 25.4% of patients allocated to general vs. regional anaesthesia, respectively (unadjusted OR 1.2 (95%CI 0.7-2.1), p&#x2009;=&#x2009;0.43, Bayes factor&#x2009;=&#x2009;0.28). Major cognitive decline developed in 8.6% vs. 8.5% of patients allocated to general vs. regional anaesthesia, respectively (unadjusted OR 1.0 (95%CI 0.4-2.4)).

The incidence of 12-month postoperative cognitive decline was not significantly different in patients having general or regional anaesthesia for hip fracture surgery.

Incidence of 12-month postoperative cognitive decline following regional vs. general anaesthesia in older patients undergoing hip fracture surgery: follow-up of the RAGA trial.

Anaesthesia

Chronic lymphocytic leukemia (CLL) is the most frequent type of leukemia. It typically occurs in older patients and has a highly variable clinical course. Leukemic transformation is initiated by specific genomic alterations that interfere with the regulation of proliferation and apoptosis in clonal B-cells.

The diagnosis is established by blood counts, blood smears, and immunophenotyping of circulating B-lymphocytes, which identify a clonal B-cell population carrying the CD5 antigen as well as typical B-cell markers.

Two clinical staging systems, Rai and Binet, provide prognostic information by using the results of physical examination and blood counts. Various biological and genetic markers provide additional prognostic information. Deletions of the short arm of chromosome 17 (del(17p)) and/or mutations of the TP53 gene predict a shorter time to progression with most targeted therapies. The CLL international prognostic index (CLL-IPI) integrates genetic, biological, and clinical variables to identify distinct risk groups of patients with CLL. The CLL-IPI retains its significance in the era of targeted agents, but the overall prognosis of CLL patients with high-risk stages has improved.

Only patients with active or symptomatic disease or with advanced Binet or Rai stages require therapy. When treatment is indicated, several therapeutic options exist: combinations of the BCL2 inhibitor venetoclax with obinutuzumab, or venetoclax with ibrutinib, or monotherapy with one of the inhibitors of Bruton tyrosine kinase (BTK). At relapse, the initial treatment may be repeated if the treatment-free interval exceeds 3&#x2009;years. If the leukemia relapses earlier, therapy should be changed using an alternative regimen.

Combinations of targeted agents now provide efficient therapies with a fixed duration that generate deep and durable remissions. These fixed-duration therapies have gained territory in the management of CLL, as they are cost-effective, avoid the emergence of resistance, and offer treatment free time to the patient. The cure rate of these novel combination regimens is unknown. Moreover, the optimal sequencing of targeted therapies remains to be determined. A medical challenge is to treat patients who are double-refractory to both BTK and BCL2 inhibitors. These patients need to be treated within experimental protocols using novel drugs.

Glycogen storage diseases.

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