Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2-PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.
Abstract Coxsackievirus A10 (CV-A10) is recognized as one of the most important pathogens associated with hand, foot, and mouth disease (HFMD) in young children under 5 years of age worldwide, and it can lead to fatal neurological complications. However, available commercial vaccines fail to protect against CV-A10. Therefore, the study of new protein targets against CV-A10 highlight the urgent need for the development of vaccine-based strategies. Currently, advances in proteomics have enabled a comprehensive understanding of host-pathogen interactions in recent years. Here, to study CV-A10-host interaction, a global quantitative proteomic analysis could help uncover the molecular determinants of host cellular proteins and excavate key host proteins following CV-A10 infection. Through tandem mass tagging (TMT)-based mass spectrometry, it was found that a total of 6615 host proteins were quantified, with 293 proteins being differentially regulated. To ensure the validity and reliability of the proteomics data, 3 randomly selected proteins were verified by Western blot analysis, and the results were consistent with the TMT results. Further functional analysis showed that the up-regulated and down-regulated proteins were individually enriched in diverse biological activities and signaling pathways, such as metabolic process, biosynthetic process, AMPK signaling pathway, Neurotrophin signaling pathway, MAPK signaling pathway, GABAergic synapse, and so on. Moreover, subsequent bioinformatics analysis further exhibited that these differentially expressed proteins contained distinct domains, localized in different subcellular components, and generated a complex network. Finally, it was also found that HMGB1 might be a key host factor to be involved in CV-A10 replication. In summary, our findings provided comprehensive insights into the proteomic profile during CV-A10 infection and added depth to our understanding of the relationship between CV-A10 and host cell, as well as also established a proteomic signature for this viral infection. Meanwhile, based on the effect of HMGB1 on CV-A10 replication, it might be regarded as a promising therapeutic target against CV-A10 infection.
Recently, the epidemic of novel coronavirus pneumonia (COVID-19) in China and other countries in the world is serious. There are at present no effective treatments for COVID-19. The safety and effectiveness of western anti-coronavirus drugs are under investigation. In many places in China, traditional Chinese medicine (TCM) has been used to treat COVID-19 with a high clinical cure rate. The treatment economics of TCM is good. The immune-regulating and antiviral TCM can enhance human immunity and exert an antiviral effect. They have been widely used in the anti-COVID-19 treatment. We consulted the database of CNKI, Wanfang, VIP and PubMed for screening the immune-regulating and antiviral TCMs (Glycyrrhizae Radix et Rhizoma, Pogostemonis Herba, Lonicerae Japonicae Flos, Scutellariae Radix, Forsythiae Fructus, Magnoliae Officinalis Cortex, Bupleuri Radix, Isatidis Radix, Rhei Radix et Rhizoma, Astragali Radix, and Houttuyniae Herba). This article summarizes the physicochemical and pharmacokinetic characteristics, and the clinical application of the effective components of immune-regulating and antiviral TCM in the prescriptions and Chinese patent medicines, in order to provide a better reference for the clinical application of TCM.
This study was designed to explore the association between the TMEM173 polymorphism (rs7447927) and the severity of enterovirus 71 (EV71) infection among Chinese children.
The COVID-19 pandemic has caused changes in urban mobility patterns due to the temporary movement restrictive policies imposed by local governments and the long-term hybrid work arrangements adapted by companies. This study re-examines the fundamental theories of human mobility in Singapore at the pre-pandemic, pandemic and endemic stages. In particular, we estimated three well-established mobility models in complexity science: gravity model, radiation model and visitation law for investigating the effects of COVID-19 pandemic in different stages, using the transit Origin-Destination (O-D) data collected in Singapore. Overall, the results show that the three mobility theories remain valid throughout the different periods with visitation law outperforming the gravity and the radiation models. At the pre-pandemic stage, the performance of the gravity and radiation models were comparable. The performance of the gravity model has improved compared to its pre-pandemic performance, showing 6–18% improvement at the pandemic stage and 9–15% improvement at the post pandemic stage, whereas the performance of the radiation model hasn't changed much, making gravity model a better-performing model than the radiation model for these periods. Our results also show that in the gravity and radiation models, gross floor area is a better predictor for transit flows than the population, whereas in the visitation law use of population variable results in better predictions. Our study is a first attempt in providing a revised understanding of the performance of the fundamental human mobility laws in the post-pandemic world.
Dermatomyositis (DM) is an autoimmune disease that primarily affects the skin and skeletal muscle. Virus infection and type I interferon-related signaling pathways play an important role in the pathogenesis of dermatomyositis. In this study, we found that the skin of patients with DM and the skin of patients with COVID-19 have similar transcriptional profiles, and identified key genes involved in dermatomyositis based on bioinformatics analysis. These hub-genes might be served as potential biomarkers for the early diagnosis and therapy of DM, including MX1, ISG15, IFIT3, IFIT1, RSAD2, IFIT2, IFI6, XAF1, IRF9, MX2.
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