Publications by authors named "M M Cason"

Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac disorder characterized by the gradual replacement of cardiomyocytes with fibrous and adipose tissue, leading to ventricular wall thinning, chamber dilation, arrhythmias, and sudden cardiac death. Despite advances in treatment, disease management remains challenging. Animal models, particularly mice and zebrafish, have become invaluable tools for understanding AC's pathophysiology and testing potential therapies.

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Total hip arthroplasty (THA) is one of the most successful elective operations in orthopedic surgery for improving pain and functional disability in patients with end-stage joint disease. However, dislocation continues to be a troublesome complication after THA, as it is a leading cause of revision and is associated with substantial social, health, and economic costs. It is a relatively rare, usually early occurrence that depends on both the patients' characteristics and the surgical aspects.

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Article Synopsis
  • Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition that can lead to sudden death, and understanding its genetic factors is crucial for their diagnosis.
  • A study of 320 ACM patients in Italy identified 35 rare genetic variants, mainly in non-desmosomal genes, with significant findings in the filamin C (FLNC) gene specifically, which accounted for over two-thirds of pathogenic variants.
  • The results suggest that while these non-desmosomal variants are present in some ARVC patients, they are more prevalent in ALVC patients, indicating that clinical decisions should prioritize genes with strong supporting evidence.
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Arrhythmogenic cardiomyopathy (AC) is an inherited disorder characterized by progressive loss of the ventricular myocardium causing life-threatening ventricular arrhythmias, syncope and sudden cardiac death in young and athletes. About 40% of AC cases carry one or more mutations in genes encoding for desmosomal proteins, including Desmoplakin (Dsp). We present here the first stable Dsp knock-out (KO) zebrafish line able to model cardiac alterations and cell signalling dysregulation, characteristic of the AC disease, on which environmental factors and candidate drugs can be tested.

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Article Synopsis
  • A new variant of arrhythmogenic cardiomyopathy, called arrhythmogenic left ventricular cardiomyopathy (ALVC), has been studied, focusing on its effects during pregnancy, as there is limited information on this topic.
  • A study analyzed the health of 35 female ALVC patients, observing that 46% had pregnancies with no major health issues related to heart function reported during or after pregnancy.
  • The results showed that both childbearing and nulliparous women had similar heart health outcomes, suggesting pregnancy in ALVC patients can be managed without significant complications.
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