Discrimination and Characterization of the Volatile Organic Compounds in Schizonepetae Spica from Six Regions of China Using HS-GC-IMS and HS-SPME-GC-MS.

Volatile organic compounds (VOCs) are the main chemical components of Schizonepetae Spica (SS), which have positive effects on the quality evaluation of SS. In this study, HS-SPME-GC-MS (headspace solid-phase microextraction-gas chromatography-mass spectrometry) and HS-GC-IMS (headspace-gas chromatography-ion mobility spectrometry) were performed to characterize the VOCs of SS from six different regions. A total of 82 VOCs were identified. In addition, this work compared the suitability of two instruments to distinguish SS from different habitats. The regional classification using orthogonal partial least squares discriminant analysis (OPLS-DA) shows that the HS-GC-IMS method can classify samples better than the HS-SPME-GC-MS. This study provided a reference method for identification of the SS from different origins.

Millimeter-wave SFCW SAR imaging system based on in-phase signal measurement with simplified transceiver.

A conventional millimeter-wave stepped frequency continuous wave (SFCW) synthetic aperture radar (SAR) imaging system generally utilizes IQ modulation technique to acquire the amplitude and phase of the waves scattered from a target object. Due to measure both in-phase signal and quadrature signal, the transceiver of the conventional system is complicate and costly, and the IQ imbalance problem makes the system difficult to calibrate. To reduce hardware complexity and enhance efficiency-cost ratio, a novel SFCW SAR imaging system only measuring in-phase signal is proposed and demonstrated. For lack of quadrature signal measurement, an algorithm based on Fourier transform is proposed to estimate the amplitude and phase. The ultimate images are obtained through an image-reconstruction algorithm, which uses the estimated amplitude and phase as input parameters. The proposed system is verified by both simulation and experiment, where the frequencies are set from 24GHz to 30GHz. The imaging results with high resolution and low noise are demonstrated. Compared to the conventional system, the image quality of the proposed system is almost identical, but the transceiver of the proposed system is greatly simplified.

Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.

BACKGROUND: Hypokalaemia is a common condition among paediatric patients, but severe hypokalaemia is rare and can be life-threatening if not treated properly. The causes of hypokalaemia are complex. Finding the root cause is the key. CASE PRESENTATION: This article reports on a 2-year-old boy with severe hypokalaemia who was diagnosed with pneumonia. The child's lab findings were low blood potassium minimum level of 1.7 mmol/L, hypomagnesemia, and metabolic alkalosis. However, he was without the common features of hypokalaemia, such as respiratory paralysis, severe arrhythmia, weakness and decreased blood pressure. After recovering from pneumonia, his potassium levels did not return to normal. This outcome was suspected to be due to chronic renal loss of potassium. After undergoing second-generation gene sequencing tests, it was discovered he carried the SLC12A3 gene mutation with an Asp486Asn mutation site, which he had inherited from his mother. The final diagnosis was made, confirming the child suffered from Gitelman syndrome. CONCLUSIONS: Genetic predisposition is an important cause of hypokalaemia in children. Children with unexplained persistent hypokalaemia should be examined for the possibility of Gitelman syndrome, which should be distinguished from Bartter syndrome. Genetic testing is the gold standard.

Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022.

BACKGROUND: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. METHODS: We searched the core collection of Web of Science for relevant papers on genetic research on childhood epilepsy published since 2010 on November 30, 2022. In this study, original articles and reviews in English were included. Using CiteSpace and VOSviewer online tools, we conducted a bibliometric analysis of the countries, institutions, journals, co-cited journals, co-cited references, keywords, and research hotspots. RESULTS: We evaluated 2500 literatures on epilepsy genomics in children. Among them, 96 countries published relevant articles, with the United States ranking the most. A total of 389 institutions have contributed relevant publications, and the University of Melbourne has published the most papers. Epilepsy journals were the most commonly cited. The references of papers were clustered into 9 categories: gene testing, epileptic encephalopathy, Dravet syndrome, focal cortical dysplasia, Rolandic epilepsy, copy number variation, ketogenic diet, monogenic epilepsy, and ptt2 mutation. Burst keywords represent the frontier of research, including developmental and epileptic encephalopathy (2021-2022), neurodevelopmental disorders (2020-2022), gene testing (2020-2022), and whole-exome sequencing (2019-2022). CONCLUSION: This study conducted a systematic and objective bibliometric analysis of the literature on epilepsy gene research in children. More importantly, it revealed the hot spot, frontier, and future developmental trends in the field. It will help pediatricians and geneticists further understand the dynamic evolution of genetic research on pediatric epilepsy.

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.

As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype-phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far only more than 80 cases have been reported worldwide. In this article, a new patient with a de novo mutation was followed up for 10 years; it includes the epilepsy treatment process, the characteristics of NBCRS with seizures, typical faces, sparse hair, prominent interphalangeal joints, and intellectual disability, and we also summarized the genotype-phenotype of the 80 reported cases for comparison. Due to insufficient studies and lack of attention paid to the syndrome, it is believed that the actual number of cases should be far more than the reported number. The syndrome is phased and progressive. The genotype-phenotype correlation of the disease is related to the location of the gene locus, especially closely related to the SNF2 ATPase domain. CONCLUSIONS: The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual disability, and perfecting multiple types of diagnostic techniques will help the discovery of the disease; its clinical features are staged and are slowly progressive, and long-term prognosis must be taken precautious with long-term follow-up required.

Effect of Rongchang capsule on seizure behavior, cognitive impairment, and hippocampal DNA damage and inflammatory factors in epileptic rat.

OBJECTIVE: To observe the behavioral changes and changes in DNA fragments and related inflammatory factors in the hippocampus of epileptic rats pretreated with Rongchang capsule (). METHODS: Eighty Sprague-Dawley rats were randomly divided into the normal group (NG), model group (MG), sodium valproate group (VG), and Rongchang capsule group (RG) (n = 20 in each group). Pentylentetrazol was administered to the MG, VG, and RG to induce epilepsy. The VG and RG were pretreated with 1/2 the therapeutic dose of sodium valproate and Rongchang capsule, respectively. Changes in convulsion behavior and water maze learning were observed. Single cell gel electrophoresis was used to detect changes in the DNA in the hippocampus. The tail length (TL) and Olive tail moment (OTM) of cells were analyzed by GASP software. The expression of interleukin-1ß (IL-1ß), high mobility group box 1 (HMGB1), transforming growth factor-ß (TGF-ß), and CCL4 in the hippocampus was determined by Western blotting. RESULTS: Rongchang capsule had a weaker effect on convulsive latency than sodium valproate, but significantly reduced seizure susceptibility. The spatial learning ability of the RG was better than that of the VG (P ≤ 0.01). The TL and OTM were significantly higher in the MG than the NG (P < 0.01). The RG had a better TL and OTM than the VG (P < 0.01). Combined with the microscopy results, DNA damage was most pronounced in the MG. Drug intervention decreased the DNA damage in the VG and RG. The expressions of IL-1ß, CCL4, and HMGB1 in the hippocampus were significantly greater in the MG than the NG (P < 0.01), and were significantly reduced in the RG and VG compared with the MG (P < 0.01); however, there was no intergroup difference in the expression of TGF-ß. The average values for the expression of inflammatory factors in the hippocampus were higher in the RG than in the VG; thus, Rongchang capsule may have a weaker effect on reducing the expression of inflammatory factors in the hippocampus than sodium valproate. CONCLUSION: Pretreatment with Rongchang capsule prevents or delays cognitive impairment in rats with induced epilepsy, reduces hippocampal DNA damage, and decreases the hippocampal expressions of IL-1ß, CCL4, and HMGB1.