[Temporal and Spatial Distribution Characteristics and Source Analysis of Nitrate in Surface Water of Wuding River Basin].

The Wuding River Basin is a first-class tributary of the Yellow River, and the quality of its water ecological environment has a profound impact on the ecological protection and high-quality development of the Yellow River Basin. In order to identify the source of nitrate pollution in the Wuding River Basin, surface water samples of the Wuding River were collected from 2019 to 2021, and the temporal and spatial distribution characteristics and influencing factors of nitrate concentration in surface water in the basin were explored. Nitrogen and oxygen isotope tracer technology and the MixSIAR model were used to qualitatively and quantitatively determine the sources of surface water nitrate and their contribution rates. The results showed that there were significant spatial and temporal differences in nitrate concentrations in the Wuding River Basin. In terms of time, the mean concentration of NO-3-N in surface water in the wet season was higher than that in the flat-water period; spatially, the mean concentration of NO-3-N in the downstream surface water was higher than that in the upstream. The spatial and temporal differences in surface water nitrate concentrations were mainly affected by rainfall runoff, soil types, and land use types. The main sources of nitrates in the surface water of the Wuding River Basin during the wet season were domestic sewage, manure, chemical fertilizers, and soil organic nitrogen, whose contribution rates were 43.3%, 27.6%, and 22.1%, respectively, and the contribution rate of precipitation was only 7.0%. There were differences in the contribution rate of nitrate pollution sources in surface water of different river sections. The contribution rate of soil nitrogen in the upstream was significantly higher than that in the downstream, which was 26.5%. The contribution rate of domestic sewage and manure in the downstream was significantly higher than that in the upstream, which was 48.9%. To provide a basis for the analysis of nitrate sources and pollution control in Wuding River and even rivers in arid and semi-arid regions.

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

OBJECTIVE: Roberts syndrome (RBS), also known as Roberts-SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre- and postnatal growth retardation and craniofacial and limb malformations. Here, we report RBS in a Chinese adolescent with novel biallelic ESCO2 variations and complex cerebrovascular diseases. METHODS: Medical history, neurological examinations, neuroimaging, and pathology were collected in the proband and the family. Whole exome sequencing (WES) with copy number variation analysis was performed to screen for genetic variations. RESULTS: The clinical features of the proband were craniofacial and limb malformations together with complex cerebrovascular diseases. She suffered ischemic stroke at 6 years old and died of cerebellar hemorrhage secondary to an aneurysm at 13 years old. Besides, neuroimaging showed the triad of leukoencephalopathy, calcifications, and cysts. Brain histopathology revealed angiomatous changes and perivascular cysts suggesting chronic small cerebral vasculopathy. Whole exome sequencing (WES) identified novel biallelic variations in the ESCO2 gene (c.1220A>T, p.H407L and c.1562delC, p.A521fs). CONCLUSIONS: We describe complex cerebrovascular diseases in Roberts syndrome caused by novel ESCO2 biallelic variations. This case expands not only the cerebral involvement in Roberts syndrome but also the disease spectrum of the neuroimaging triad with leukoencephalopathy, calcifications, and cysts.

Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.

INTRODUCTION: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare genetic leukoencephalopathy caused by duplication of the lamin B1 gene (LMNB1) or LMNB1 upstream deletions. Neuronal intranuclear inclusion disease (NIID) is another leukoencephalopathy due to GGC repeat expansion in the 5'-untranslated region of the NOTCH2NLC gene. Here, we report two Chinese ADLD families with neuroimaging and clinical features mimicking NIID. METHODS: We conducted detailed medical history inquiry, neurological examinations, and magnetic resonance imaging in the two families. Candidate gene sequencing and whole exome sequencing (WES) with copy number variation analysis were used to screen the genetic variations. The special points on the clinical and neuroimaging findings in the current families and differential diagnosis of ADLD with NIID are discussed. RESULTS: The two families presented with slowly progressive, multiple central nervous system symptoms, including spastic paraplegia, autonomic dysfunction, ataxia, deep sensory loss, and tremor. Clinical phenotypes were consistent within the family. Transient hypoglycemia and transient dilated pupils indicating autonomic dysfunctions were recorded for the first time in ADLD. Brain MRI showed band-like hyperintensities at the cortico-medullary junction on DWI, typical for NIID. Skin biopsy and genetic sequencing of the NOTCH2NCL gene did not support the diagnosis of NIID. Further whole exome sequencing (WES) identified the duplication mutation spanning the entire LMNB1 gene. CONCLUSIONS: The novel feature of transient hypoglycemia and dilated pupils broadens the spectrum of autonomic dysfunction in ADLD. Clinical manifestations and neuroimaging of ADLD can mimic NIID. Although ADLD is even rarer than NIID, the differential diagnosis of these two diseases should not be confused.

Encephalitis in Kikuchi-Fujimoto disease being immune-mediated.

INTRODUCTION: Histiocytic necrotizing lymphadenitis, also known as Kikuchi-Fujimoto disease, is a rare benign self-limiting inflammatory disease often seen in young adults. The main clinical features are fever with cervical lymphadenopathy. Neurological complications of Kikuchi-Fujimoto disease were occasionally reported although the specific pathogenesis was not clear. The condition could be severe when encephalitis coexists. METHODS: Here we reported a young case of Kikuchi-Fujimoto disease with subsequent severe autoimmune encephalitis. RESULTS: The symmetric striatal and limbic MRI lesions combined with psycho-cognitive, epileptic symptoms supported encephalitis. Tissue-based immunofluorescence revealed widely cytoplasmic fluorescence in rat cerebellar and hippocampal neurons, which provide evidence for immune-mediated encephalitis. The clinical outcome was satisfactory after immunosuppressive therapy with MRI lesions largely disappeared. CONCLUSION: The encephalitis complication of Kikuchi disease may be autoimmune and mediated by cytotoxic T cells.

[Hydrochemical Characteristics and Controlling Factors of Surface Water and Groundwater in Wuding River Basin].

Taking Wuding River as the research object, the study explored the hydrochemical characteristics and discussed the source of solute and control factors of groundwater and surface water in the basin, in order to provide a reference for water quality management. Considering the seasonal differences, water samples were collected during the dry season and the flood season. By comprehensively using graphic methods, correlation analysis, and forward deduction models, we analyzed the temporal and spatial evolution characteristics of water chemistry, explored the formation mechanism of water chemistry, and quantified the contribution rates of different sources to solutes. The results showed that the overall water quality was weakly alkaline in Wuding River basin. HCO3- and Na+ were the main anions and cations in the water, respectively, and the main water chemistry type was HCO3·SO4-Na·Ca. The water quality gradually deteriorated along the river course from west to east, and the sampling points that exceeded the level Ⅲ water were mainly distributed in tributaries during the dry season and downstream during the flood season. The cation exchange effect increased the Na+ and K+ in the water, and NO3- and HCO3- differed significantly in different seasons, which may be affected by seasonal precipitation leaching soil and land use types. Evaporite weathering and silicate weathering were the main sources of solute contribution in the Wuding River basin, which were 35.0% and 46.5% in the dry season and 46.7% and 42.3% in the flood season,respectively.

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.

OBJECTIVE: Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated as spastic paraplegia 18 (SPG18). To date, SPG18 families/cases are still rarely reported. All early reported cases shared the autosomal recessive (AR) inheritance pattern. Over the past 3 years, autosomal dominant (AD) or sporadic SPG18 cases had been continuously reported. Here, we reported the clinical and genetic features of the first autosomal dominant SPG18 pedigree in Chinese. METHODS: We conducted detailed medical history inquiry, neurological examinations of the proband and his family members, and charted the family tree. The proband underwent brain and cervical magnetic resonance imaging (MRI), electromyography (EMG), and whole exome sequencing. Sanger sequencing was performed to verify the genetic variation in the proband and some family members. A literature review of all reported SPG18 families/cases was carried out to summarize the clinical-genetic characteristics of SPG18 under different inheritance patterns. RESULTS: Four patients were clinically diagnosed as chronic spastic paraplegia in three consecutive generations with the autosomal dominant inheritance model. All the patients presented juvenile-adolescent onset and gradually worsening pure HSP phenotype. Clinical phenotypes were consistent within the family. Whole exome sequencing in the proband identified a previously reported heterozygous c.502G > A (p.V168M) mutation in exon 8 of ERLIN2 gene. This mutation was cosegregated with the phenotype in the family and was classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. To date, eight AR-SPG18 families, five AD-SPG18 families, and three sporadic cases had been reported. Clinical phenotype of AD-SPG18 was juvenile-adolescent onset pure HSP, while the phenotype of AR-SPG18 was mostly complicated HSP with earlier onset and more severe conditions. In rare cases, the initial spastic paraplegia could evolve to rapidly progressive amyotrophic lateral sclerosis (ALS). CONCLUSIONS: We reported the first autosomal dominant SPG18 pedigree in Chinese Han population, which added more pathogenic evidence for V168M mutation. As more SPG18 cases reported, the essentials of SPG18 need to be updated in clinical practice. Special attentions should be given in gene test for upper motor neuron disorders in case of missing heterozygous mutations in ERLIN2.

Watch out for neuromyelitis optica spectrum disorder after inactivated virus vaccination for COVID-19.

With recent availability of COVID-19 vaccine, post-vaccination neurological complications had been occasionally reported. Here, we reported for the first time a case of neuromyelitis optica spectrum disorder (NMOSD) that developed after the first dose of inactivated virus vaccine for COVID-19. The patient developed mild fever, vomiting, diarrhea, and cough after receiving the first dose of inactivated virus vaccine. Two months later, she experienced dizziness and unsteady walking. MRI scanning of the brain revealed lesions in area postrema and bilateral hypothalamus, typical for NMOSD. Serum antibodies for AQP4, ANA, SSA, SSB, Ro-52, and p-ANCA were positive. The patient was diagnosed as AQP4-positive NMOSD with coexisting systemic autoimmunity. After treatment with methylprednisolone (500 mg for 5 days), symptoms were greatly relieved. As NMOSD is seriously harmful and curative, it is important to be aware of the NMOSD symptoms after vaccination. Cautions should be given for those with preexisting systemic autoimmune abnormalities in vaccination for COVID-19.

A novel in situ stress measurement method based on acoustic emission Kaiser effect: a theoretical and experimental study.

Measurement of in situ stress is critical to understand the deformation and destruction of the underground space surrounding rock, and dynamic disaster of the coal mine. At present, with the increasing depth of mining, in situ stress parameters are more and more important for coal mine. In this paper, a novel method for in situ stress measurement with Kaiser effect was studied and applied in the Baijiao coal mine. First, we presented a comprehensive analysis method for the identification of Kaiser effect point. Then, a calculation method for in situ stress measurement based on the Kaiser effect on acoustic emissions was suggested. After that, the in situ stress test of Baijiao coal mine is taken as the research object, an experiment using acoustic emissions monitoring during uniaxial compression testing was performed to investigate the mechanical properties and acoustic emissions characteristics. Finally, in situ stress of the study area was calculated using the novel calculation method above and calculation results were verified using stress relief method and hydraulic fracturing method. The results showed that the calculation results obtained using the proposed method were valid and credible. Therefore, the calculation method for in situ stress measurement and the proposed comprehensive analysis method using the Kaiser point could be applied for in situ stress testing using the Kaiser effect method.

Related Research and Recent Progress of Ischemic Penumbra.

We reviewed recent studies on ischemic penumbra, including the evolution of the definitions of ischemic penumbra and observations on the characteristics of blood flow and the molecular evolutionary mechanism of ischemic tissues; at the same time, a brief summary of current clinical treatment methods were included. From the perspective of neuroimaging and clinical treatment, the characteristics of cerebral blood flow, oxygen consumption, cell water content, and metabolites were analyzed, to evaluate the diagnosis and evolution of ischemic penumbra. The analysis of the evolutionary characteristics of multiple gene molecules and metabolites may provide ideas for clinical imaging diagnosis and clinical treatment, also allow the combination of multiparameter imaging indexes to be more accurate and effective for the assessment of ischemic penumbra. The research hotspot of imaging on the ischemic penumbra region in the future may be more focused on reflecting the evolutionary characteristics of local metabolites in the ischemic area. Using multimodality imaging to evaluate IP zones and guide the formulation of clinical treatment protocols.

[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L].

OBJECTIVE: To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability. METHODS: By using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluorescent protein (GFP) vector were transfected into SHSY-5Y cell, respectively. Twenty-four hours later, the cells were treated with 44 degree centigrade lethal heat shock for 40 minutes. The relative viability of SHSY-5Y cells in each group was tested by using tetrazole blue colorimetric method (methyl thiazolyl tetrazolium, MTT). RESULTS: There were significant differences among the light absorption value of GFP, pEGFP-(wt)HSPB8 and pEGFP-(K141N)HSPB8 transfected groups after heat shock (P<0.05), indicating that the relative viability of cells overexpressed with (wt)HSPB8 and (K141N)HSPB8 was different from that of control cells. The viability of cells overexpressing (wt)HSPB8 was highest, followed by cells overexpressed with (K141N)HSPB8. The viability of cells tranfected with GFP only was the lowest. CONCLUSION: HSPB8 may play an important role in the protection of cells under lethal heat shock treatment, and the K141N mutation can impair the protective effect.

[The clinical characteristics of a pedigree with incompletely penetrated autosomal dominant hereditary spastic paraplegia and its exclusion analysis of genetic loci].

OBJECTIVE: To describe the clinical features of a big family with incompletely penetrated autosomal dominant hereditary spastic paraplegia (SPG) and perform the exclusion analysis of genetic loci. METHODS: The clinical information of this SPG family was analyzed retrospectively. Exclusion analysis of the known autosomal dominant SPG loci was performed by using multiplex fluorescence PCR, capillary electrophoresis and Linkage package. RESULTS: There were eleven affected members available in this SPG family and the age at onset ranged from 2 to 10 years. The first symptoms were a bilateral, symmetrical, progressive lower limb weakness and spasticity. Patients presented with spasticity and hyperreflexia, positive Babinski sign and scissors gait, and the upper limbs were involved more severely than the lower limbs. No urinary inconsistence, sensory impairment, nystagmus and dementia were found. Genetic analysis showed that this family was consistent with autosomal dominant inheritance. The linkage analysis and mutation analysis revealed this family was not linked to the known autosomal dominant loci. CONCLUSION: This SPG family had typical "pure" clinical symptoms. The age at onset was early and the signs in the upper limbs were more obvious than those in the lower limbs. The result of linkage analysis shows that this family represents a new SPG subtype.

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

OBJECTIVE: To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L). METHODS: The cell models which transiently expressed pEGFPN1-HSPB8 and pEGFPN1-(K141N)HSPB8 were established. The immunofluorescent co-location study of EGFP-(K141N)HSPB8 and HSPB1, EGFP-(K141N)HSPB8 and neurofilament light chain (NEFL) was carried out in the SHSY5Y cell models. The aggregate formation of EGFP-(K141N)HSPB8 in cell models was investigated and the possible mechanism of cellular aggregate formation was analyzed by t test and analysis of variance between group(ANOVA). RESULTS: EGFP-(K141N)HSPB8 formed large aggregate which predominantly located around the nucleus in cell models. EGFP-(K141N)HSPB8 co-localized perfectly with HSPB1 and NEFL in the SHSY5Y cell models. The aggregate formation was different in different cell types, there were fewer aggregates formed in an sHSPs deficient milieu than in HEK293T cells. CONCLUSION: (K141N)HSPB8 formed aggregates predominantly locate around the nucleus in cells. (K141N)HSPB8 co-localizes perfectly with HSPB1 and NEFL. The aggregate formation may be due to (K141N)HSPB8 conformational change leading to self aggregation and its abnormal interaction with other sHSPs such as HSPB1.

[The study of feature extraction of near-infrared spectroscopy with multi-scale edge extraction method].

The authors utilized a multi-scale edge extraction method to extract feature information of nearinfrared spectroscopy. Applying partial least-squares to charactcristic data obtained, the authors set up a linear mathematical model of the correlation between NIR spectrum and metronidazole contents. The result shows that the multi-scale extraction method can separate and extract feature information, and can be seen as an effective method of spectrum information extraction. The present study offers a new solution to the problems in nearinfrared spectroscopy technology.

[The application of correlation detection to near-infrared spectroscopy].

Correlation detection was applied to near-infrared spectroscopy (NIRS) to extract the signal feature in the present paper. With metronidazole tablets as the object, the correlation both between each pure components and between pure metronidazole and different component-content mixtures were obtained. The results show that through correlation processing, the information feature of spectra could be separated and strengthened, and so better fitted to realize qualitative and quantitative spectrochemical analysis. Besides, the impact of noise could be lowered in this process. The conclusion is that correlation detection is an effective way to extract feature information and can be considered as a new solution to the problems of spectral superposition and low information rate in NIRS.