The American journal of the medical sciences
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Review Case Reports
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.
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Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic manifestations that affect both male and female. Fabry disease may present as "classical", as "late-onset" or "non-classical" forms. ⋯ Diagnosis is more challenging in females who may express normal residual enzyme activity. Other plasmatic biomarkers, such as lyso-globotriaosylceramide are interesting, especially in females. In this review, we aimed to summarize main clinical manifestations of Fabry disease to know when to evoke Fabry disease and propose a practical diagnosis algorithm to know how to diagnose.
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Myocardial infarction with nonobstructive coronary arteries (MINOCA) can be clinically categorized as ST-segment elevation (STE) and non-ST-segment elevation (NSTE), whose clinical prognosis are poorly understood. The aim of this study was to compare the clinical outcome and their predictors of patients with STE and NSTE in MINOCA population. ⋯ There were differences in the clinical profile between STE and NSTE in the MINOCA population, whereas the outcomes during the 1-year follow up were similar. The STE and NSTE groups had different predictive factors for major adverse cardiac events.