Medicine
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Case Reports
Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report.
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder typically caused by low density lipoprotein receptor (LDLR) gene mutation. Herein, we reported a FH pedigree with polygenic variants: LDLR, apolipoprotein B (APOB), and epoxide hydrolase 2 (EPHX2). ⋯ WES combined with clinical features is essential for the diagnosis of FH, however, prenatal genetic testing results might bring more challenges to prenatal genetic counseling. Furthermore, it is more important to provide the guidance and early intervention for such families in the long run.
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In this study, a nomogram was established and validated by assessing the risk factors for the development of pulmonary metastases in patients with non-papillary thyroid carcinoma (NPTC) and was used to predict the risk of developing pulmonary metastases. Demographic and clinicopathological variables of patients with NPTC from 2010 to 2015 in the Surveillance, Epidemiology, and End Results database were retrospectively analyzed, and independent risk factors were identified using χ2 tests and full subset regression analysis. Based on this, a nomogram was developed and validated for predicting the risk of pulmonary metastasis in patients with NPTC. ⋯ We further developed a nomogram with a consistency index of 0.898 (95% confidence interval: 0.880-0.920) in the training cohort and 0.895 (95% confidence interval: 0.862-0.927) in the validation cohort. The calibration curve and decision curve analyses also demonstrated the strong reliability and accuracy of this clinical prediction model. In this study, a nomogram was constructed to accurately identify patients with NPTC at a high risk of pulmonary metastasis, which will help clinicians in personalized decision-making.
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This study aimed to evaluate the effectiveness of combined pelvic floor muscle exercise (PFME) and duloxetine treatment in the recovery from postprostatectomy urinary incontinence (PPUI). Participants were patients who underwent radical prostatectomy (RP) between 2018 and 2021 and who were able to attend follow-up appointments every 3 months for at least 12 months. Continence was defined as the use of ≤1 pad per day. ⋯ However, no significant differences were found in the incontinence rates between the 2 groups at each follow-up period after 3 months. Compared to PFME monotherapy, the combination therapy of PFME and duloxetine has short-term effectiveness in improving PPUI, but it does not have a significant long-term impact. Therefore, for early recovery from PPUI, duloxetine should be administered for a short period during PFME.
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Diabetes mellitus (DM) represents an important global burden of disease. In Panama, DM was investigated in 1 study utilizing questionnaires and in another using biomarkers, but at subnational level. Using data from a recent cross-sectional country-wide population-based study that included biomarkers, we estimated the prevalence of DM, its awareness, and control; evaluating possible risk factors. ⋯ Less than half of the individuals diagnosed with DM had their condition controlled (39.6% [31.4%-47.8%]). This study revealed that the prevalence, awareness, and control of DM were similar to recent estimates reported in other Latin American countries. It also provides a baseline regarding DM and associated risk factors in Panama at a country-level knowledge that is essential for health policy development and useful in clinical practice.
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Case Reports
Recurrent squamous cell carcinoma arising in ovary mature cystic teratoma: A case report.
Malignant transformation of mature cystic teratoma is very rare, of which squamous cell carcinoma (SCC) is the most common type. Prognosis of SCC arising in mature cystic teratoma of the ovary is very poor. Our experience may provide new ideas for the treatment of this disease. ⋯ Optimal cytoreduction and concurrent chemoradiotherapy may be an option to improve the prognosis of patients with recurrent SCC arising in ovary mature cystic teratoma.