Medicine
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Review Case Reports
Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous syndrome resulting from mutations in the tumor suppressor genes TSC1 and TSC2. Unfortunately, the absence of accurate diagnosis has significantly impacted the well-being of both patients and their families. Furthermore, the pathogenicity of numerous variants remains unverified, which could potentially result in misinterpretation of their functional implications. ⋯ This finding strengthens the significant phenotypic variability associated with TSC and expands the mutational spectrum of this rare disease.
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Meta Analysis
Prevalence of swallowing disorder among older adults in nursing homes: A meta-analysis.
To determine the prevalence of swallowing disorders in nursing homes and to analyze the prevalence in China and abroad. Providing basis for intervention, treatment, and care for swallowing disorders in elderly residents of nursing homes. ⋯ The high prevalence of swallowing disorders in nursing homes (33.2%) identified in this study underscores the need for greater attention to screening, diagnosis, and intervention strategies.
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Meta Analysis
Investigating the link between coronary artery calcification and atrial fibrillation: A systematic review and meta-analysis.
Both coronary artery calcification (CAC) and atrial fibrillation (AF) are associated with common risk factors, such as age, hypertension, diabetes, and dyslipidemia. Investigating their association may provide insights into shared pathophysiological mechanisms and overlapping risk profiles. ⋯ It can be concluded that there is a robust and consistent association between CAC and AF. Our systematic review underscores the importance of considering CAC as a potential factor in assessing the risk of AF, while also recognizing the multifactorial nature of this relationship.
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Review Case Reports
Acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations mimicking acute promyelocytic leukemia: A case report and literature review.
Acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations can mimic acute promyelocytic leukemia (APL) and poses a challenge for the early and accurate differentiation and diagnosis of APL with PML::RARA. ⋯ The comprehensive evaluation of bone marrow morphology, immunology, cytogenetics, and molecular biology is essential for the accurate diagnosis of acute myeloid leukemia.
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Endometriosis is a common benign disease in women of childbearing age, with a malignant change rate of about 1%. Endometriosis associated ovarian cancer (EAOC), which usually occurs in the ovaries, is a serious threat to women's health. Early identification of high-risk groups of EMs malignant transformation is of great significance for the prevention and treatment of EAOC. However, there is still a lack of specific and sensitive prediction factors. In recent years, scholars at home and abroad have used traditional statistical methods and machine learning to explore EAOC related prediction factors and prediction models. This paper mainly reviews and evaluates the diagnosis and prediction model of EAOC. ⋯ Related models were in good agreement with the actual situation, and have good sensitivity and specificity. The relevant prediction factors and prediction models were summarized to provide reference and new thinking for the research of prediction models in the field of EAOC, in order to develop standardized long-term management strategies for high-risk groups of EAOC and realize the advance of the diagnosis threshold of patients with EAOC.