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We report a case of Carmi Syndrome in a neonate. Aim: To share our lessons in diagnosis of the case of Carmi Syndrome. Case Report: Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G4P2+1L1 multipara through cesarean section delivery in hospital in a non-consanguineous marriage with 4000mL of II°meconium-stained amniotic fluid. He was found extensive skin loss over lower legs and other parts, with scattered blisters and bilateral microtia. Plain abdominal X-ray revealed a large gastric air bubble with no gas distally. The mother had an intrauterine fetal loss previously for reasons unknown. The dermatologist diagnosed the newborn with Bart Syndrome, while the pediatric surgeon diagnosed congenital pyloric atresia(CPA). The parents refused further treatment and the neonate passed away about 30 hours after birth. Outcome: The neonate passed away about 30 hours after birth. Conclusion: Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed. [ABSTRACT FROM AUTHOR]

COVID-19 has undergone several mutations and is still spreading in most countries now. PA has positive benefits in the prevention of COVID-19 infection and counteracting the negative physical and mental effects caused by COVID-19. However, relevant evidence has indicated a high prevalence of physical inactivity among the general population, which has worsened due to the outbreak of the pandemic, and there is a severe lack of exercise guidance and mitigation strategies to advance the knowledge and role of PA to improve physical and mental health in most countries during the epidemic. This study surveyed the effects of COVID-19 on PA in Chinese residents during the pandemic and provided important reference and evidence to inform policymakers and formulate policies and planning for health promotion and strengthening residents' PA during periods of public health emergencies. ANOVA, Kolmogorov–Smirnov, the chi-square test and Spearman correlation analysis were used for statistical analysis. A total of 14,715 participants were included. The results show that nearly 70% of Chinese residents had inadequate PA (95%CI 58.0%–82.19%) during the COVID-19 outbreak, which was more than double the global level (27.5%, 95%CI 25.0%–32.2%). The content, intensity, duration, and frequency of PA were all affected during the period of home isolation, and the types of PA may vary among different ages. The lack of physical facilities and cultural environment is the main factor affecting PA. However, there was no significant correlation between insufficient PA and the infection rate. During the period of home isolation and social distance of epidemic prevention, it is necessary to strengthen the scientific remote network monitoring and guidance for the process of PA in China. [ABSTRACT FROM AUTHOR]

H9N2 avian influenza virus (AIV) is regarded as a principal donor of viral genes through reassortment to cocirculating influenza viruses that can result in zoonotic reassortants. Whether H9N2 virus can maintain a sustained evolutionary impact on such reassortants is unclear. Since 2013, avian H7N9 virus had caused five sequential human epidemics in China; the fifth wave in 2016 to 2017 was by far the largest, but the mechanistic explanation behind the scale of infection is not clear. Here, we found that just prior to the fifth H7N9 virus epidemic, H9N2 viruses had phylogenetically mutated into new subclades, changed antigenicity, and increased their prevalence in chickens vaccinated with existing H9N2 vaccines. In turn, the new H9N2 virus subclades of PB2 and PA genes, housing mammalian adaptive mutations, were reassorted into cocirculating H7N9 virus to create a novel dominant H7N9 virus genotype that was responsible for the fifth H7N9 virus epidemic. H9N2-derived PB2 and PA genes in H7N9 virus conferred enhanced polymerase activity in human cells at 33°C and 37°C and increased viral replication in the upper and lower respiratory tracts of infected mice, which could account for the sharp increase in human cases of H7N9 virus infection in the 2016-2017 epidemic. The role of H9N2 virus in the continual mutation of H7N9 virus highlights the public health significance of H9N2 virus in the generation of variant reassortants of increasing zoonotic potential. [ABSTRACT FROM AUTHOR]

The population of the Amur tiger (Panthera tigris altaica) in the Russian Far East is currently being restored; young individuals are being spread within the historical range, including territory in China. Here, the assessment of the suitability for the territories that exist in Northeastern China as the Amur tiger habitat and its food supply-prey base (three species of ungulates, namely wild boar, red deer and roe deer) are shown. A specially protected area—the Taipingou Natural Reserve, located on the border of the People's Republic of China and Russia—was examined. The modelling of habitat suitability for ungulates was performed on the basis of Earth remote sensing data by using two different approaches: expert geo-information assessment of the territory and discriminant analysis modelling. Based on discriminant analysis, the modelling of the suitability of ungulate habitats (without the variability of plant communities) showed a small difference between the model results for wild boar and roe deer. Nevertheless, the connection with the morphometric characteristics of the relief was more important for the wild boar than the roe deer. Furthermore, the variability of vegetation types was more important for the roe deer. The analysis of the biotopes showed that wild boars prefer the central and northern parts of Taipingou National Reserve, while the main roe deer distribution is in the western part of the Reserve; red deer are more common in the southern part of the Reserve. [ABSTRACT FROM AUTHOR]

Background: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is to investigate the proportion and characteristics of hospitalized pediatric patients with MMA and PA in China.Methods: The data in this study were obtained from the Hospital Quality Monitoring System, a national inpatient database in China, with information on the patients hospitalized during the period from 2013 to 2017. We identified the data related to the patients who were under 18 years old and were diagnosed with MMA/PA, and extracted the information on demographic characteristics, hospital location, total cost and other related clinical presentations from the data.Results: Among all hospitalized pediatric patients with liver diseases, there were increasing trends in the proportion of individuals diagnosed with MMA or PA during the period from 2013 (0.76% for MMA; 0.13% for PA) to 2017 (1.61% for MMA; 0.32% for PA). For both MMA and PA, children under 2-year-old accounted for the highest proportion. The median of total cost per hospitalization was relatively high (RMB 7388.53 for MMA; RMB 4999.66 for PA). Moreover, most patients hospitalized in tertiary class A hospitals (MMA: 80.96%, PA: 76.21%); and a majority of pediatric patients admitted in the hospitals in Shanghai and Beijing are from outside districts. Manifestations of nervous system-related symptoms, and metabolic acidosis or anemia in laboratory findings were more common during hospitalization.Conclusions: The study is the first nationwide one in providing epidemiological and clinical information on hospitalized pediatric patients with MMA/PA. An increasing hospitalization with various presentations and a heavy financial burden were observed. In addition, geographically, the medical resources in China have been unevenly distributed. [ABSTRACT FROM AUTHOR]

Human coinfection with a novel H7N9 influenza virus and the 2009 pandemic A(H1N1) influenza virus, H1N1pdm09, has recently been reported in China. Because reassortment can occur during coinfection, it is necessary to clarify the effects of gene reassortment between these two viruses. Among the viral ribonucleoprotein complex (vRNP) genes, only the PA gene of H1N1pdm09 enhances the avian influenza viral polymerase activity. Based on a phylogenetic analysis, we show a special evolutionary feature of the H1N1pdm09 PA gene, which clustered with those of the novel H7N9 virus and related H9N2 viruses, rather than in the outgroup as the H1N1pdm09 genes do on the phylogenetic trees of other vRNP genes. Using a minigenome system of the novel H7N9 virus, we further demonstrate that replacement of its PA gene significantly enhanced its polymerase activity, whereas replacement of the other vRNP genes reduced its polymerase activity. We also show that the residues of PA evolutionarily conserved between H1N1pdm09 and the novel H7N9 virus are associated with attenuated or neutral polymerase activity. The mutations associated with the increased activity of the novel H7N9 polymerase are characteristic of the H1N1pdm09 gene, and are located almost adjacent to the surface of the PA protein. Our results suggest that the novel H7N9 virus has more effective PB1, PB2, and NP genes than H1N1pdm09, and that H1N1pdm09-like PA mutations enhance the novel H7N9 polymerase function.