Understanding the clinical characteristics of transthyretin familial amyloid polyneuropathy (TTR-FAP) is critical for early diagnosis and timely referral for liver transplantation. Here, we describe a 52-year-old man who had slight paresthesia for four years and whose final diagnosis of TTR-cardiac amyloidosis caused by sporadic FAP was delayed despite annual electrocardiography. Curative liver transplantation was postponed because of progressive cardiac involvement. This experience highlights the difficulties associated with diagnosing TTR-FAP, especially when it is sporadic, and underscores the importance of slight changes in ECG that could indicate FAP.
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http://dx.doi.org/10.2169/internalmedicine.49.2703 | DOI Listing |
Acta Pharm
December 2024
Department of Clinical Pharmacy, University Hospital Dubrava, 10000 Zagreb Croatia.
Cardiovascular diseases (CVDs) are the leading cause of mortality and morbidity globally. It is estimated that 17.9 million people died from CVDs in 2019, which represents 32 % of all deaths worldwide.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
PLoS One
January 2025
Institute for Physical Activity and Nutrition, Deakin University, Melbourne, VIC, Australia.
Heart disease remains a leading cause of mortality and morbidity worldwide, necessitating the development of accurate and reliable predictive models to facilitate early detection and intervention. While state of the art work has focused on various machine learning approaches for predicting heart disease, but they could not able to achieve remarkable accuracy. In response to this need, we applied nine machine learning algorithms XGBoost, logistic regression, decision tree, random forest, k-nearest neighbors (KNN), support vector machine (SVM), gaussian naïve bayes (NB gaussian), adaptive boosting, and linear regression to predict heart disease based on a range of physiological indicators.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Neurosurgery and State Key Laboratory of Trauma, Burn and Combined Injury, Southwest Hospital; Chongqing Key Laboratory of Precision Neuromedicine and Neuroregenaration, Third Military Medical University (Army Medical University), 400038 Chongqing, China.
Background: Phthalates, widely used as chemical additives, are often found as mixtures in the environment. However, the combined impact of phthalate exposure on sarcopenia remains unclear.
Objective: This study aimed to investigate the relationships between phthalates and sarcopenia in adults.
Multimed Man Cardiothorac Surg
January 2025
Department of Cardiovascular Surgery, Marmara University Pendik Research and Training Hospital, Istanbul, Turkey.
The surgical procedure detailed in this case report focuses on the treatment of a large cardiac hydatid cyst located in the intraventricular septum. The surgical intervention comprised a comprehensive approach involving a median sternotomy and cardiopulmonary bypass. A localized mass below the tricuspid valve at the basal region of the interventricular septum was revealed.
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