Articles: disease.
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Familial hypercholesterolemia (FH) is a globally underdiagnosed inherited metabolic disorder. Owing to limited published data from Arab world, this study was conducted with the aim of identifying the genetic and molecular basis of FH in highly consanguineous Saudi population. ⋯ This study highlights the effectiveness of the WES, sanger sequencing, and computational analysis in expanding FH variant spectrum in culturally distinct populations like Saudi Arabia. Genetic testing of FH patients is very essential in better clinical diagnosis, screening, treatment, and management and prevention of cardiovascular disease burden in the society.
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Different human leukocyte antigen (HLA)-DR genotypes have been known to be associated with the risk of development of systemic lupus erythematosus (SLE) in different populations, although Lu et al. have reported previously that no correlation exists between the HLA-DR genotype and disease manifestation in SLE patients in Taiwan. We investigated the effects different HLA-DR genotypes had on SLE incidence in Taiwanese patients as to whether risk alleles were associated with different clinical manifestations, and the effects risk alleles had on the age of disease onset. ⋯ HLA-DR2 was associated with SLE susceptibility in this Taiwanese population as well as lower age of disease onset and more severe clinical manifestations.
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Corneal pregnancy is rare and difficult to detect in the early stages. Due to the abundant blood supply in this area, a rupture can result in massive internal bleeding, shock, and even death. Therefore, immediate surgery is necessary, and patients must replenish their blood volume as soon as possible to ensure blood supply to important organs. For those whose blood pressure cannot immediately rise, surgery should be performed while resisting shock to buy time. ⋯ The early diagnosis of cornual pregnancy is mainly based on ultrasound. However, there is a high incidence of missed diagnosis and misdiagnosis of this disease. Patients may face serious and life-threatening conditions in case of the rupture of cornual pregnancy. This disease can be mainly treated by surgery.
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Comment
NSAIDs and hormonal contraceptives are linked to VTE in women with no previous thrombotic disease.
Meaidi A, Mascolo A, Sessa M, et al. Venous thromboembolism with use of hormonal contraception and non-steroidal anti-inflammatory drugs: nationwide cohort study. BMJ. 2023;382:e074450. 37673431.
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To investigate the correlation between central arterial pressure (CAP) parameters and the severity of atherosclerotic lesions in the coronary arteries, understand the value of CAP in assessing the risk of coronary heart disease (CHD), and provide a theoretical basis for the prevention and treatment of CHD. Between January 2021 and January 2022, 224 patients admitted to our hospital for complete coronary angiography (CAG) were included in this retrospective study. CAP parameters, including central systolic pressure (CSP), diastolic pressure (CDP), and pulse pressure (CPP), and Gensini scores were collected; the association between CAP parameters and the severity of coronary lesions was analyzed using the Pearson correlation coefficient (r) and multivariate regression analysis. ⋯ CSP, CDP, and CPP were significantly higher in the high Gensini score group than in the low Gensini score group for coronary vascular lesions; furthermore, CSP and CPP were significantly higher in the high Gensini score group than in the medium Gensini score group (P < .05). Pearson correlation analysis showed that CSP and CPP were positively and CDP was negatively correlated with the severity of coronary artery lesions in patients with CHD (P < .05). Logistic regression analysis showed that a history of diabetes, CSP, CDP, and CPP were independent risk factors for severe atherosclerotic lesions in the coronary arteries (P < .05). noninvasive CAP-related indices, such as CSP, CDP, and CPP, are independently correlated with and can be used to predict the severity of coronary lesions in patients with CHD, which may be beneficial for guiding clinical diagnosis and treatment.