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
[Breast Cancer in Male Patients of the Aconcagua Valley During the Period 2013-2018].
Breast cancer in men is a rare disease, accounting for around 1% of all cancers in males. Diagnosis often occurs in advanced stages due to low awareness of this disease in males. ⋯ Despite the limited sample size, the results suggest that factors such as age and clinical and histopathological variables are not significantly associated with survival in men with breast cancer. These findings highlight the need for further research with larger sample sizes to better understand this population's survival factors.
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Revista médica de Chile · Jul 2024
[Tuberculosis Profile in Chile: Effect of Migration, Overcrowding and Income on Tuberculosis and Its Spatial Distribution].
To analyze tuberculosis (TB) incidence, demographic profiles, and associated risk factors in migrant and national populations, in order to understand the impact of migration, overcrowding, and socioeconomic factors on TB prevalence and care-seeking behaviors. ⋯ TB remains a significant public health challenge influenced by migration, overcrowding, and socio-economic disparities. Tailored interventions focusing on high-risk groups and specific geographic areas are essential for effective control strategies. Future research should explore the impact of the COVID-19 pandemic on TB dynamics and associated socio-health factors.
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Revista médica de Chile · Jul 2024
Observational Study[Association Between Parkinson's Disease and Functionality in Older Adults in Chile: The Case of the Maipú Commune].
Population aging has caused a rise in neurodegenerative diseases among which includes Parkinson's disease. However, in Chile, there is still little knowledge about how Parkinson's disease is associated with functionality in elderly people. ⋯ The study shows a significant association between Parkinson's disease and functional limitations, supported by the literature. Although this study accounts for the specific reality of a territory, its results can be useful in designing strategies and interventions that could help improve the quality of life of people with Parkinson's disease and their families in other urban territories of the country.
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Revista médica de Chile · Jul 2024
Review Case Reports[Acute Myocardial Infarction as a Presentation of Takayasu Arteritis in a Patient with Ulcerative Colitis: Case Report and Review of the Topic].
A 36-year-old woman with ulcerative colitis presented with progressive chest pain and neurovegetative symptoms. The electrocardiogram showed ST segment elevation in the inferior wall. The patient had a previous history of fatigue and night sweats. ⋯ Aortitis was suspected, which led to additional studies, among which a slight elevation of inflammatory activity indices stood out, and a computed tomography angiography showed periaortic fibrotic thickening and significant stenosis in multiple arteries, suggesting Takayasu vasculitis. She was treated with prednisone and methotrexate and underwent delayed myocardial revascularization surgery with good results. This case highlights the complexity of Takayasu arteritis, its possible association with ulcerative colitis, and the importance of early diagnosis for adequate management.