Revista médica de Chile
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Revista médica de Chile · Sep 2024
Review Case ReportsHypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs. ⋯ After diagnosis, all started treatment with a specific diet and nitisinone with prompt recovery and a quick remission of clinical signs of HR, being able to discontinue their conventional rickets therapy successfully. Conclusion: We present three patients with HT-1 whose main complaint was HR. It is important to know the main features of this metabolic disorder and have a high index of suspicion when we follow-up children with HR, especially if they are not responding to conventional therapy or develop liver dysfunction.
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Revista médica de Chile · Sep 2024
Review[β-Lactam Hypersensitivity: Narrative Review and an Inpatient Management Algorithm Proposal].
β-Lactam hypersensitivity is the most frequently self-reported drug hypersensitivity reaction. However, most of these patients are not truly allergic. The label of B. Lactam allergy is associated with multiple adverse outcomes, including mortality, increased costs, and hospital stay; therefore, healthcare practitioners should try to eliminate this label, when possible, in addition to knowing what safe antibiotic alternatives exist depending on the degree of risk, if the allergy is confirmed. ⋯ According to the literature review results, we propose a management algorithm for hospitalized patients.
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Revista médica de Chile · Sep 2024
Review[Utility of CT Cardiac Angiography in the Evaluation of Infective Endocarditis and Its Complications].
Infective endocarditis (IE) is an infection that affects the heart valves, endocardium, and great vessels. It has a mortality rate of approximately 30% per year, so early diagnosis is essential to reduce morbidity and mortality. Cardiac angio-CT triggered by electrocardiogram (ECG) has been considered in IE management guidelines in recent years, given its high spatial resolution, contributing to the diagnosis and evaluation of valvular complications (vegetations, perforations, dysfunctions), perivalvular (abscesses, pseudoaneurysms, prosthesis dehiscence, fistulas) and compromised coronary arteries (embolism), allowing early diagnosis and treatment.
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Revista médica de Chile · Sep 2024
Randomized Controlled Trial[Health Literacy and Metabolic Control in Individuals Diagnosed with Type 2 Diabetes Mellitus: A Cluster Randomized Clinical Trial].
People with type 2 diabetes mellitus (DM2) experience difficulties in self-management. One of the variables involved is the low level of health literacy (HL) which corresponds to the degree to which people access, understand, evaluate and use information to engage with health demands in different contexts, in order to promote and maintain good health. ⋯ An intervention that considers LS adapted to the Latin American sociocultural context with a combination of group and individual strategies can generate a difference in HBA1c.
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Revista médica de Chile · Sep 2024
Case ReportsNon-Tuberculous Mycobacterial Infection in AIDS Patients: A Detailed Description of 4 Cases, Including Histopathological Finding.
Non tuberculous mycobacteria (NTM) are important opportunistic infection in patients with AIDS. ⋯ NTM infections in patients with AIDS generate a prolonged morbidity, frequent readmissions, require an extended combination treatment that may present interactions with ART, and are associated with different complications, including calcium and phosphorus disorders. Its diagnosis is complex in the absence of special blood cultures, requiring a microbiological study in multiple samples and with different techniques, including the support of histopathology.