Medicine
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The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Thus, we report on a case of neonatal HS caused by a new SPTB gene mutation that was characterized by hydrops fetalis. ⋯ Hydrops fetalis can be a manifestation of HS. Genetic detection can help confirm the diagnosis of suspected neonatal HS undocumented by other laboratory examinations.
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In 2020, the new type of coronal pneumonitis became a pandemic in the world, and has firstly been reported in Wuhan, China. Chest CT is a vital component in the diagnostic algorithm for patients with suspected or confirmed COVID-19 infection. Therefore, it is necessary to conduct automatic and accurate detection of COVID-19 by chest CT. ⋯ There was statistical difference between the two groups with grade 1 score (P = .001), the AUC of grade 1 score, grade 2 score, grade 3 score and CT score were 0.619, 0.519, 0.478 and 0.548, respectively. Radiomics' Auto ML model was built by CT image of initial COVID -19 pneumonia, and it proved to be effectively used to predict the clinical classification of COVID-19 pneumonia. CT features have limited ability to predict the clinical typing of Covid-19 pneumonia.
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To evaluate the diagnostic value of dual-phase cone beam CT during hepatic arteriography (CBCTHA) for hepatocellular carcinoma (HCC). Thirty seven patients with unresectable HCC underwent the dual-phase CBCTHA prior to transarterial chemoembolization (TACE). Three blinded observers independently reviewed and compared the first phase CBCTHA images alone and the dual phase CBCTHA images. ⋯ For all HCCs and HCCs up to 1 cm, Az value and sensitivity showed no significant difference between the first-phase CBCTHA alone and the dual-phase CBCTHA (Az: 0.81 vs 0.88, P = .07, 0.79 and 0.85, P = .14, sensitivity: 0.61 and 0.73, P = .11, 0.41 and 0.52, P = .33, respectively). For HCCs larger than 1 cm, the mean Az value and sensitivity for the dual-phase CBCTHA were significantly higher than those for the first phase CBCTHA alone (Az: 0.96 vs 0.92, P = .008, sensitivity: 0.85 vs 0.75, P = .013, respectively). The diagnostic accuracy of the dual-phase CBCTHA was superior to that of the first phase CBCTHA alone in the diagnosis of HCC larger than 1 cm.
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Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare monogenic autoimmune disease, which is caused by mutations in the forkhead box protein 3 gene, can affect various systems. The typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases. However, some atypical phenotypes can easily be misdiagnosed clinically. ⋯ Early diagnosis and treatment of IPEX are crucial. Lung injury may be a major problem in the later stages of atypical IPEX, and mycophenolate mofetil seems to control the respiratory symptoms, but could induce significant skin side effects.
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Single-nucleotide polymorphisms (SNPs) in the transcription factor 7-like 2 (TCF7L2) gene have been identified to be associated with the susceptibility to type 2 diabetes mellitus (T2DM) in various populations worldwide, but the results in Chinese are conflicting, and no data are available about the Liannan Yao population. Therefore, this study aimed to investigate the association of the TCF7L2 gene polymorphisms (rs12255372, rs7903146, rs7901695, rs11196205, and rs7895340) with T2DM in the Yao population living in the rural areas in the Liannan Yao Autonomous County. This was a case-control study of 28 subjects with T2DM or prediabetes and 52 non-T2DM controls, all from the Chinese Yao population and recruited between January 2019 and June 2020. ⋯ The genotypic distribution for each of the SNPs was in agreement with the Hardy-Weinberg equilibrium. There were no statistically significant differences in the distributions of genotypes or alleles at all five SNPs of the TCF7L2 gene between the case and control groups (all P > .05). TCF7L2 SNPs were not associated with T2DM in the Liannan Yao population.