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1.
Cureus ; 16(4): e57996, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38738160

RESUMO

The clinical presentation of inflammatory bowel disease (IBD) includes both gastrointestinal manifestations and extraintestinal manifestations (EIM). Over the past years, a growing number of studies have indicated that patients suffering from IBD have an increased risk of developing cardiovascular disease. Although the precise prevalence of cardiac complications in IBD remains uncertain, emerging evidence suggests a heightened incidence compared to the general population. Valvular heart disease (VHD) in IBD encompasses calcific aortic valve disease, mitral valve prolapses, and endocarditis, potentially associated with chronic inflammation. Considering the role of inflammation in developing cardiovascular manifestations, the management should include preventing flares and maintaining remission for as long as possible. This case highlights the intricate interplay between IBD and cardiovascular complications, particularly valvular abnormalities. We present a 37-year-old male with a history of ulcerative colitis (UC) who was found to have multiple valvular diseases.

2.
Cureus ; 16(3): e55677, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38586659

RESUMO

The MYUTH gene plays a critical role in preserving the integrity of the human genome, with mutations being identified in several different cancer diagnoses. It serves its purpose by encoding a DNA glycosylase enzyme responsible for preventing oxidative damage through the excision of adenine that is incorrectly paired with guanine or cytosine. Mutations of the MUTYH gene have been most frequently associated with MUTYH-associated polyposis (MAP) and colorectal cancer. Biallelic mutations of the MUTYH gene are implicated in MAP, and carriers of this mutation have an increased lifetime risk of developing colorectal cancer of 43% to 100%, depending on the appropriate screening and surveillance steps taken. This case describes a patient with recurrent basal cell carcinomas (BCC) and subsequent genetic testing that revealed a pathogenic monoallelic mutation of the MUTYH gene, as well as the interventions that were subsequently performed. It highlights a potentially new patient population that would benefit from early screening to assess the risk of developing colorectal cancers as well as BCC.

3.
Cureus ; 16(2): e55285, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38558658

RESUMO

This case report describes a rare occurrence of the coexistence of sickle cell disease (SCD) and systemic lupus erythematosus (SLE) in a 33-year-old female. The overlapping clinical manifestations posed diagnostic challenges, leading to a delayed diagnosis. The patient's presentation with pericardial effusion and tamponade during a concurrent SLE flare highlights the complexity of managing these conditions. The case underscores the importance of heightened clinical awareness and multidisciplinary collaboration for accurate diagnosis and timely intervention in such rare comorbidities.

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