Medicine
-
Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years from symptom onset to death. The mutation in his LAMP2 gene (p.Gly221Ilefs*19) had not been previously reported. ⋯ Danon disease is a rare disease that is difficult to recognize because of its hidden early manifestations. Early identification of its clinical symptoms can lead to early diagnosis and treatment.
-
Observational Study
Integrated analysis identifies a long non-coding RNAs-messenger RNAs signature for prediction of prognosis in hepatitis B virus-hepatocellular carcinoma patients.
Hepatitis B virus (HBV) infection is a leading cause of hepatocellular carcinoma (HCC), but HBV-HCC related prognosis signature remains rarely investigated. This study was to identify an integrated long non-coding RNAs-messenger RNAs (lncRNA-mRNA) signature for prediction of overall survival (OS) and explore their underlying functions. One RNA-sequencing dataset (training set, n = 95) and one microarray dataset E-TABM-36 (validation set, n = 44) were collected. ⋯ Furthermore, LncRNA insulin-like growth factor 2 antisense RNA (IGF2-AS) and long intergenic non-protein coding RNA 342 (LINC00342) were predicted to exert tumor suppression effects by regulating homeobox D1 (HOXD1) and secreted frizzled related protein 5 (SFRP5), respectively; while lncRNA rhophilin Rho GTPase binding protein 1 antisense RNA 1 (RHPN1-AS1) may possess carcinogenic potential by promoting the transcription of chromobox 2 (CBX2), cell division cycle 20 (CDC20), matrix metallopeptidase 12 (MMP12), stratifin (SFN), tripartite motif containing 16 (TRIM16), and uroplakin 3A (UPK3A). These mRNAs may be associated with cell proliferation or apoptosis related pathways. This study may provide a novel, effective prognostic biomarker, and some therapeutic targets for HBV-HCC patients.
-
This study aimed to investigate the associations between the sonographic findings and duration of symptoms in children with pilomatricoma. This study included 86 children with 95 lesions confirmed to be pilomatricoma after pathological examination. The associations between symptom duration and sonographic observations, including the presence or absence of peritumoral hyperechogenicity, calcification, and vascularity were investigated. ⋯ There were no significant between-group differences in vascularity (6.01 ± 7.24 months; range, 1-48 vs 15.50 ± 19.12 months; range, 1-60; P = .08). Pilomatricomas with a relatively short symptom duration were more likely to exhibit peritumoral hyperechogenicity and calcification with less severe posterior acoustic shadowing compared to lesions with a longer symptom duration. These sonographic findings provided useful information that facilitated the correct and rapid diagnosis of pilomatricoma.
-
Gestational hyperinsulinism is a metabolic disease which is widely concerned at home and abroad. It is a clinical consensus that the embryo implantation ability of patients with hyperinsulinemia is decreased and the abortion rate after implantation is high. The treatment of gestational hyperinsulinism with Multiple dietary fiber diets has been proven. However, due to the lack of evidence, there is no specific method or recommendation, it is necessary to carry out a systematic evaluation of Multiple dietary fiber diet, to provide effective evidence for further research. ⋯ August 19, 2020. osf.io/tbc7z. (https://osf.io/tbc7z).
-
Diabetic nephropathy (DN) is one of the most common and serious microvascular complications in patients with diabetes, which seriously affects their life quality and survival time. large dose herb Fuling or compound prescription contain large dose Fuling for treatment of DN has already been confirmed. However, due to the lack of evidence, there is no specific method or suggestion, so it is necessary to carry out systematic evaluation on Fuling and provide effective evidence for further research. ⋯ August 24, 2020. osf.io/ym2c6. (https://osf.io/ym2c6).