Medicine
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Breast adenoid cystic carcinoma is an extremely rare tumor that is incompletely understood, accounting for less than <0.1% of all breast cancers, with an average diameter of 3 cm, and it is extremely rare to see a large, non-metastatic breast adenoid cystic carcinoma with a diameter of about 30 cm. Since this disease is extremely rare, there are few reports in the literature and limited data on clinical diagnosis and treatment. We present a case of a 71-year-old woman with a large, non-metastatic adenoid cystic carcinoma of the left breast and share our opinion on the diagnosis and treatment of this case. ⋯ Adenoid cystic carcinoma tumors are usually around 3 cm; such a huge 30 cm adenoid cystic carcinoma of the breast is extremely rare, and it is extremely rare to find a breast malignancy that has not developed regional lymph node and distant metastases for more than 20 years. Clinicians must remain vigilant for early breast malignancies at a high age of incidence and conduct further research for diagnosis to avoid delays.
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Case Reports
Navigating complex cardiac complications: A case report of alcoholic cardiomyopathy and right atrial thrombosis.
Alcoholic cardiomyopathy (ACM) is associated with various cardiac complications, but the development of isolated right atrial (RA) thrombus without deep vein thrombosis is rare and presents diagnostic challenges. ⋯ RA thrombosis is an uncommon complication of ACM. A multimodal imaging approach, with a low threshold for transesophageal echocardiography, is crucial in evaluating patients with ACM who present with cardiac complications. This approach enables accurate diagnosis and management of rare conditions like isolated RA thrombosis.
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Case Reports
Unveiling a rare BRAF mutation in minimally invasive follicular thyroid carcinoma: A case report.
Molecular testing is becoming more widely used; however, the accuracy of diagnostic testing remains a primary consideration, especially for molecular testing that detects specific mutations associated with cancers. ⋯ This case study demonstrates the clinical relevance of exercising caution in molecular testing and its interpretation of results. For genetic testing used for diagnostic purposes, rigorous validation or cross-checking using different methods should always be considered to ensure appropriate interpretation of molecular results.
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In China, herbal traditional Chinese medicine products are readily obtained without any requirement of prescription and widely used in real life, thereby increasing the incidence of their related herb-induced liver injury (HILI). However, the diagnosis of HILI is still challenging because its clinical manifestations are variable due to lack of any specific biomarkers. Misdiagnosis and inappropriate treatment may result in the progression of HILI. ⋯ Corticosteroids should be potentially effective and safe in patients with severe HILI.
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Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment. ⋯ Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.