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Fabry disease (FD) is an X-linked lysosomal storage disease caused by the mutation in the α-galactosidase A gene that leads to a consequently decreased α-galactosidase A enzyme activity and a series of clinical presentations. However, FD accompanied with aseptic meningitis can be relatively scarce and rarely reported, which leads to significant clinical misdiagnosis of this disease.Sixteen patients diagnosed with FD based on a decreased activity of α-galactosidase A enzyme and/or genetic screening were identified through a 6-year retrospective chart review of a tertiary hospital. Clinical presentations, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analyzed in cases of aseptic meningitis associated with FD.Three out of 16 cases exhibited aseptic meningitis associated with FD. There was one female and two male patients with a mean age of 33.3 years. A family history of renal failure or hypertrophic cardiomyopathy was found in 3 cases. All cases presented with a persistent or intermittent headache and recurrent ischemic stroke. The cerebrospinal fluid analyses showed mild pleocytosis in 2 patients and an elevated level of protein in all patients. Cerebrospinal fluid cytology revealed activated lymphocytes, suggesting the existence of aseptic meningitis. In the literature review, up to 9 cases presenting with FD and aseptic meningitis were found, which bore a resemblance to our patients in demographic and clinical characteristics.Our cases suggested that aseptic meningitis in FD might be under-detected and easily misdiagnosed, and should be more thoroughly examined in further cases.

Chinese cordyceps is a well-known fungus-larva complex with medicinal and economic importance. At present the occurrence of Chinese cordyceps has not been fully illuminated. In this study, the microbial diversities of fertilized Thitarodes eggs from sites A (high occurrence rates of Chinese cordyceps), B (low occurrence rates), and C (no Chinese cordyceps) were analyzed using 16S rRNA and ITS gene-sequencing technique. The previous sequencing data of soil from the same sites were conjointly analyzed. The results showed that bacterial communities among the eggs were significantly different. The bacterial diversity and evenness were much higher on site A. Wolbachia was overwhelmingly predominant in the eggs of sites B and C, while Spiroplasma showed preference on site A. The fungal between-group differences in the eggs were not as significant as that of bacteria. Purpureocillium in Cordyceps-related families showed preference on site A. Wolbachia, Spiroplasma, and Purpureocillium were inferred to be closely related to Chinese cordyceps occurrence. Intra-kingdom and inter-kingdom network analyses suggest that closer correlations of microbial communities (especially closer fungal positive correlations) in fertilized eggs might promote Chinese cordyceps occurrence. Besides, metabolic pathway analysis showed that in fertilized eggs or soil the number of bacterial metabolic pathways with significant differences in every comparison between two sites was greater than that of fungi. Collectively, this study provides novel information about the occurrence of Chinese cordyceps, contributing to the large-scale artificial cultivation of Chinese cordyceps.

ATP1A3-related dystonia is a disorder with high heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 gene. Here, 2 atypical cases carring 2 de-novo ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemi-dystonia are described.

Background The large-scale artificial cultivation of Chinese cordyceps has not been widely implemented because the crucial factors triggering the occurrence of Chinese cordyceps have not been fully illuminated. Methods In this study, the bacterial and fungal structure of fertilized eggs in the host Thitarodes collected from 3 sampling sites with different occurrence rates of Chinese cordyceps (Sites A, B and C: high, low and null Chinese cordyceps, respectively) were analyzed by performing 16S RNA and ITS sequencing, respectively. And the intra-kingdom and inter-kingdom network were analyzed. Results For bacterial community, totally 4671 bacterial OTUs were obtained. α-diversity analysis revealed that the evenness of the eggs from site A was significantly higher than that of sites B and C, and the dominance index of site A was significantly lower than that of sites B and C ( P < 0.05). β-diversity analysis showed that the differences of bacterial community among the eggs from the three sampling sites were significantly different. OTU1 ( Wolbachia ) was the overwhelming predominant bacteria in the eggs from sites B and C. Although OTU4 ( Spiroplasma ) was detected in minor abundances, it showed distribution preference in the fertilized eggs from site A. For fungal community, totally 3318 fungal OTUs were obtained. Difference analysis showed significant differences among the three sites, while the differences were not as significant as that of bacterial community. In addition, ten fungal genera in the three most concerned Cordyceps families (Clavicipitaceae, Cordycipitaceae and Ophiocordycipitaceae) were detected in the fertilized eggs, while the most approved anamorph ( Hirsutella ) of Chinese cordyceps wasn’t discovered. Intra-kingdom (fungi) network analysis revealed more positive correlations and average degrees at sites A, and Inter-kingdom network analysis revealed more positive and negative correlations at sites A. Discussion The microbial community, especially the bacterial community in the fertilized eggs, might be significantly related with the occurrence of Chinese cordyceps, and Wolbachia might be the most significant microorganism negatively related with the occurrence. A closer correlation of the microbial community, especially closer fungal positive correlation, in the fertilized eggs might help for the occurrence of Chinese cordyceps.

Cathepsin B (CatB) has been widely known for its hydrolytic ability and involvement in the innate immunity. However, the mechanism of CatB from teleosts participating in immunoregulation remains poorly understood; and the sequence of CatB from Nile tilapia (NtCatB) has not been cloned and characterized. In this study, the coding sequence of NtCatB was cloned, and then characterized by bioinformatic analysis and heterologous expression. The deduced amino acid sequence (330-aa) of NtCatB contains the representative features of CatB. Quantitative real-time PCR revealed the extensive mRNA expression of NtCatB in six tissues of healthy Nile tilapia, and its transcription level was significantly up-regulated after Streptococcus agalactiae challenge. NtCatB may interact with some immunological function proteins and take part in the regulatory pathway. These results suggest that NtCatB is likely to be involved in the immune reaction. The mature region (residues 79-328, mNtCatB) of NtCatB was cloned and transferred to pET-28a for expressing the recombinant protein. The purified recombinant mNtCatB was verified with the activity of 992.34 U mg-1 min-1 under the optimal condition using a substrate hydrolyzing assay. The recombinant cystatin-A1-like can effectively inhibit the activity of the recombinant mNtCatB, and their binding form was predicted by molecular docking. Our results contribute to elucidating the immunological functions of NtCatB.

Global carbon cycling is a significant factor that controls climate change. The centennial-scale variations in total organic carbon (TOC) contents and its sources in marginal sea sediments may reflect the influence of human activities on global climate change. In this study, two fine-grained sediment cores from the Yellow Sea Cold Water Mass of the South Yellow Sea were used to systematically determine TOC contents and stable carbon isotope ratios. These results were combined with previous data of black carbon and 210Pb dating from which we reconstructed the centennial-scale initial sequences of TOC, terrigenous TOC (TOCter) and marine autogenous TOC (TOCmar) after selecting suitable models to correct the measured TOC (TOCcor). These sequences showed that the TOCter decreased with time in the both cores while the TOCmar increased, particularly the rapid growth in core H43 since the late 1960s. According to the correlation between the Huanghe (Yellow) River discharge and the TOCcor, TOCter, or TOCmar, we found that the TOCter in the two cores mainly derived from the Huanghe River and was transported by it, and that higher Huanghe River discharge could strengthen the decomposition of TOCmar. The newly obtained initial TOC sequences provide important insights into the interaction between human activities and natural processes.

Black carbon (BC) has received increasing attention in the last 20 years because it is not only an absorbent of toxic pollutants but also a greenhouse substance, preserving fire-history records, and more importantly, acting as an indicator of biogeochemical cycles and global changes. By adopting an improved chemothermal oxidation method (WXY), this study reconstructed the century-scale high-resolution records of BC deposition from two fine-grained sediment cores collected from the Yellow Sea Cold Water Mass in the South Yellow Sea. The BC records were divided into five stages, which exhibited specific sequences with three BC peaks at approximately 1891, 1921, and 2007 AD, representing times at which the first heavy storms appeared just after the termination of long-term droughts. The significant correlation between the times of the BC peaks in the cores and heavy storms in the area of the Huanghe (Yellow) River demonstrated that BC peaks could result from markedly strengthened sedimentation due to surface runoff, which augmented the atmospheric deposition. Stable carbon isotope analysis indicated that the evident increase in carbon isotope ratios of BC in Stage 5 might have resulted from the input of weathered rock-derived graphitic carbon cardinally induced by the annual anthropogenic modulation of water-borne sediment in the Huanghe River since 2005 AD. Numerical calculations demonstrated that the input fraction of graphitic carbon was 22.97% for Stage 5, whereas no graphitic carbon entered during Stages 1 and 3. The obtained data provide new and important understanding of the source-sink history of BC in the Yellow Sea.

Coastal seas, located between continents and the open ocean, are an important active carbon pool. The sedimentary total organic carbon (TOC) in these areas is a mixture of terrestrial and marine sources, and can be a powerful proxy for tracing natural processes and human activities. In this study, one fine-grained sediment core (DH5-1) from the inner shelf of the East China Sea was systematically analyzed for TOC and black carbon (BC) contents and TOC stable carbon isotope ratios (δ13C). By combining these data with 210Pb dating, an improved carbon correction model and a two end-member mixing model, we reconstructed century-scale high-resolution sequences of corrected TOC, terrestrial TOC and marine TOC contents and identified two carbon depletion events in the DH5-1 record. The two events, shown as two minima in the TOC profiles, correspond temporally to 1985-1987 AD and 2003-2006 AD, which exactly matches the water impoundment of the Gezhouba Dam and Three Gorges Dam, respectively. In addition, the variations in TOC contents and δ13C values before, during or after the minima demonstrate a relationship between the depletion events and water impoundment of the dams on the Changjiang River. The TOC reductions may represent synchronous responses of sedimentary TOC and resultant ecological effects on the inner shelf of the East China Sea to the water impoundment of the dams. These new TOC records reflect the interaction between natural and anthropogenic processes and, accordingly, provide a deep insight and important references for assessing marine ecological effects resulting from water impoundment of largescale dams.

Cathepsin L (CatL) has been widely known for its involvement in the innate immunity. However, it still remains poorly understand how CatL modulates the immune system of teleosts. Moreover, the CatL of Nile tilapia (NtCatL) has not been cloned or characterized. In this study, the gene encoding NtCatL was cloned, and was characterized by bioinformatics analysis, heterologous expression and protease activity assay. The coding sequence of NtCatL is 1017 bp in length and encodes 338 amino acid residues with a predicted molecular weight of 38.487 kDa and a theoretical isoelectric point of 5.79. NtCatL possesses the features of a typical cathepsin L, including one signal peptide, one propeptide region, and one papain family cysteine protease domain containing four active site residues (Gln 135 , Cys 141 , His 281 , and Asn 305 ). The prediction of protein-protein interaction shows that NtCatL may interact with some functional proteins for realizing an immune function. Real-time quantitative PCR revealed the widespread transcriptional expression of NtCatL in six tissues of healthy Nile tilapia, and the NtCatL mRNA is significantly up-regulated after Streptococcus agalactiae challenge. These results suggest that NtCatL is likely to be involved in the immune reaction of Nile tilapia. Recombinant proteins from the mature domain (residues 117–337) of NtCatL were obtained by heterologous expression using pET28a and Rosetta (DE3) competent cells. A protein product with the high purity was obtained by using TALON Superflow purification rather than adopting HisTrap HP columns. The protease activity of the recombinant protein was verified by using a substrate hydrolyzing assay. This work has cloned and characterized the CatL from Nile tilapia for the first time, and contributes to elucidating the immunological functions of CatL.

Chinese Cordyceps is a well-known medicinal larva-fungus symbiote distributed in the Qinghai-Tibetan Plateau and adjacent areas. Previous studies have involved its artificial cultivation but commercial cultivation is difficult to perform because the crucial factors triggering the occurrence of Chinese Cordyceps are not quite clear. The occurrence of Chinese Cordyceps is greatly affected by the soil environment, including the soil&rsquo, s physicochemical and microecological properties. In this study, the effects of these soil properties on the occurrence of Chinese Cordyceps were investigated. The results show that the physicochemical properties, including easily oxidizable organic carbon (EOC), soil organic carbon (SOC), humic acid carbon (HAC), humin carbon (HMC), and pH, might be negatively related to the occurrence of Chinese Cordyceps, and soil water content (SWC) might be positively related. Several soil physicochemical parameters (pH, SOC, HMC, HAC, available potassium (APO), available phosphorus (APH), microbial biomass carbon (MBC), and the ratio of NH4+ to NO3- (NH4+/NO3-)) and microbial properties interact and mix together, which might affect the occurrence of Chinese Cordyceps. Soil microbial community structure was also a possible factor, and a low level of bacterial and fungal diversity was suitable for the occurrence of Chinese Cordyceps. The intra-kingdom network revealed that a closer correlation of the bacterial community might help the occurrence of Chinese Cordyceps, while a closer correlation of the fungal community might suppress it. The inter-kingdom network revealed that the occurrence rate of Chinese Cordyceps might be negatively correlated with the stability of the correlation state of the soil habitat. In conclusion, this study shows that soil physicochemical properties and microbial communities could be greatly related with the occurrence of Chinese Cordyceps. In addition, soil physicochemical properties, the level of bacterial and fungal diversity, and correlations of bacterial and fungal communities should be controlled to a certain level to increase the production of Chinese Cordyceps in artificial cultivation.

Cordyceps sinensis is one rare medicinal fungus produced in the Qinghai-Tibetan Plateau. Its quality and price varies hugely with different habitat, and its numerous substitutes have sprung up in functional food markets. This paper aims to discriminate the geographic origin of wild C. sinensis and its substitutes via the element analyzer-isotope ratio mass spectrometry and gas chromatography-isotope ratio mass spectrometry. The δ13C values of major fatty acids in the lipids of Cordyceps sinensis are characterized unanimously by the variation relation C18:0 ﹤ C18:2 ≈ C16:0 ﹤ C18:1; while their fluctuation intervals are notably different between those of neutral and polar lipids. The comparative analysis of the δ13C ratios of major fatty acids in lipids of Cordyceps sinensis suggests that the δ13C patterns may be sensitive potential indicators to discriminate its geographical origin. The δ13C values of individual major fatty acids of lipids from the cultivated stromata of Cordyceps militaris (SCM), the fermented mycelia of Hirsurella sinensis (FMH) and Paecilomyces epiali (FMP) range from −31.2‰ to −29.7‰, −16.9‰ to −14.3‰, and −26.5‰ to −23.9‰, respectively. Their δ13C pattern of individual major fatty acids may be used as a potential indicator to discriminate the products of natural C. sinensis and its substitutes.

Petroleum pollution is a severe environmental issue. Comprehensively revealing the genetic backgrounds of hydrocarbon-degrading microorganisms contributes to developing effective methods for bioremediation of crude oil-polluted environments. Marine bacterium Achromobacter sp. HZ01 is capable of degrading hydrocarbons and producing biosurfactants. In this study, the draft genome (5.5 Mbp) of strain HZ01 has been obtained by Illumina sequencing, containing 5,162 predicted genes. Genome annotation shows that “amino acid metabolism” is the most abundant metabolic pathway. Strain HZ01 is not capable of using some common carbohydrates as the sole carbon sources, which is due to that it contains few genes associated with carbohydrate transport and lacks some important enzymes related to glycometabolism. It contains abundant proteins directly related to petroleum hydrocarbon degradation. AlkB hydroxylase and its homologs were not identified. It harbors a complete enzyme system of terminal oxidation pathway for n-alkane degradation, which may be initiated by cytochrome P450. The enzymes involved in the catechol pathway are relatively complete for the degradation of aromatic compounds. This bacterium lacks several essential enzymes for methane oxidation, and Baeyer-Villiger monooxygenase involved in the subterminal oxidation pathway and cycloalkane degradation was not identified. These results suggest that strain HZ01 degrades n-alkanes via the terminal oxidation pathway, degrades aromatic compounds primarily via the catechol pathway and cannot perform methane oxidation or cycloalkane degradation. Additionally, strain HZ01 possesses abundant genes related to the metabolism of secondary metabolites, including some genes involved in biosurfactant (such as glycolipids and lipopeptides) synthesis. The genome analysis also reveals its genetic basis for nitrogen metabolism, antibiotic resistance, regulatory responses to environmental changes, cell motility, and material transport. The obtained genome data provide us with a better understanding of hydrocarbon-degrading bacteria, which may contribute to the future design of rational strategies for bioremediation of petroleum-polluted marine environments.

For more than one thousand years, Cordyceps sinensis has been revered as a unique halidom in the Qinghai-Tibetan Plateau for its mysterious life history and predominant medicinal values. This mysterious fungus-larva symbiote also attracted the over-exploitation, while several problems on the initial colonization of Ophiocordyceps sinensis in the host larva have constrained artificial cultivation. In this work, stable carbon isotope analysis was employed to analyse the subsamples of C. sinensis from 5 representative habitats. The results demonstrated that these samples possessed similar δ13C profiles, i.e., a steady ascending trend from the top to the bottom of stroma, occurrence of the δ13C maximum at the head, a slight decrease from the head to the end of thorax, a sharply descent trend from the end of thorax to the forepart of abdomen, and maintenance of lower δ13C values in the rest parts of abdomen. Based on the data, we consider that the site near the head of the host larva may be the initial target attacked by O. sinensis, and the fungus growth is closely related to the digestive tract of its host larva. The growth stages of O. sinensis are accordingly speculated as the symptom-free, symptom-appearing, and stroma-germinating stages.

For more than one thousand years, Cordyceps sinensis has been revered as a unique halidom in the Qinghai-Tibetan Plateau for its mysterious life history and predominant medicinal values. This mysterious fungus-larva symbiote also attracted the over-exploitation, while several problems on the initial colonization of Ophiocordyceps sinensis in the host larva have constrained artificial cultivation. In this work, stable carbon isotope analysis was employed to analyse the subsamples of C. sinensis from 5 representative habitats. The results demonstrated that these samples possessed similar δ