Medicine
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Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for early treatment with bile acid replacement therapy, with an excellent chance for recovery. In contrast, protracted diagnosis and treatment may lead to poor outcomes, including decompensated hepatic cirrhosis, liver transplant, and even death. ⋯ Clinicians should consider genetic disorders related to cholestasis for effective and life-saving treatment. A prompt genetic analysis by next-generation gene sequencing enables patients to access bile acid replacement therapy earlier, significantly improving short- and long-term outcomes.
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Case Reports
Intraoperative malignant glaucoma during femtosecond laser-assisted cataract surgery: A case report.
Femtosecond laser-assisted cataract surgery (FLACS) has grown in popularity among ophthalmologists as a novel surgical technique. However, malignant glaucoma (MG) is a complication of FLACS. Herein, we report a case of MG following FLACS. ⋯ We describe the occurrence of MG after FLACS and illustrate that miosis and bubble formation after FLACS may be risk factors for MG during FLACS.
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Case Reports
Postaxial hypoplasia of the lower extremity associated with congenital dislocation of the patella: A case report.
Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major challenge, which is more complicated when PHLE is associated with congenital dislocation of the patella. ⋯ PHLE accompanied by congenital dislocation of the patella has not been extensively described in the literature; therefore, there is no established management. Starting reconstruction at an early age, together with an adequate classification of the deformity, are essential factors when opting for limb reconstruction.
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Bronchiolitis generally refers to inflammation and/or fibrosis of the non-cartilaginous small airways located approximately from the 8th airway generation down to the terminal and respiratory bronchioles. In contrast to young children, the frequency of small airway infection in adult bronchiolitis appears less frequent and a number of other pathophysiological conditions have been implicated in adult bronchiolitis. However, little information is available on the exact medical burden of bronchiolitis such as its prevalence and comorbidities in the adult population. ⋯ Healthcare costs for bronchiolitis increased steeply during the same period. Malignancy in any organ was the leading cause of mortality in the patient group, followed by bronchiolitis itself. Further larger prospective multiethnic cohort studies should be carried out in the near future.
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The purpose of the study is to investigate the correlation of computed tomography (CT) quantitative parameters with tumor invasion and Ki-67 expression in early lung adenocarcinoma. The study involved 141 lesions in 141 patients with early lung adenocarcinoma. According to the degree of tumor invasion, the lesions were assigned into (adenocarcinoma in situ + minimally invasive adenocarcinoma) group and invasive adenocarcinoma (IAC) group. ⋯ Besides, the predicted probability of logistic regression analysis model was detected to have the area under the curve of 0.931 (P < .001). The results of Spearman correlation analysis showed that the expression level of Ki-67 had the highest correlation with the average CT value of the lesion (r = 0.403, P < .001). The short diameter of the lesion and the average CT value are independent predictors of IAC, and the average CT value is significantly positively correlated with the expression of tumor Ki-67.