To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

Objective:To evaluate the clinical efficacy of lumbar spine warming needle moxibustion of Jiaji and Traditional Chinese Medicine (TCM) fumigation combined with conventional western medicine therapy on patients with acute inflammatory period of lumbar disc herniation (LDH).Methods:Randomized controlled trial. A total of 140 patients with acute inflammation of LDH in our hospital from December 2019 to December 2021 were selected as observational objects, and the patients meeting the inclusion criteria were divided into 2 groups with 70 patients in each group by random number table method. The control group was treated with conventional western medicine therapy, and the observational group was treated with warming needle moxibustion of Jiaji combined with TCM fumigation on the basis of control group treatment. Both groups received continuous treatment for 1 month. TCM syndrome scores were performed before and after treatment, the degree of lumbar pain was assessed by VAS, the degree of lumbar dysfunction was assessed by Japanese Orthopaedic Association Evaluation Treatment (JOA score), and serum CRP, IL-6 and TNF-α levels were measured by ELISA.Results:The total effective rate was 95.71% (67/70) in the observation group and 82.86% (58/70) in the control group, and there was significant difference between the two groups ( χ2=6.05, P=0.014). After treatment, TCM syndrome score [(4.45±1.09) vs. (10.67±2.82), t=16.85], VAS score [(1.54±0.43) vs. (3.28±1.04), t=12.94] lower than those in the control group ( P<0.01), subjective feeling [(7.54±2.87) vs. (6.24±1.76), t=5.72], physical signs [(6.76±2.00) vs. (4.34±1.67), t=7.77], limited daily activities [(9.56±3.27) vs. (7.89±2.97), t=3.16], bladder function score [(2.88±0.84) vs. (2.63±0.64), t=2.89] and the total score [(25.04±7.44) vs. (20.35±6.87), t=4.63] were higher than those in the control group ( P<0.01). After treatment, serum IL-6 [(18.12±4.23) μg/L vs. (26.46±4.58) μg/L, t=11.19], CRP [(18.87±6.07) mg/L vs. (25.89±5.72) mg/L, t=7.04] and TNF-α levels [(24.42±5.37) ng/L vs. (29.45±5.44) ng/L, t=5.51] were lower than those in the control group ( P<0.01). Conclusion:The warming needle moxibustion of Jiaji and TCM fumigation combined with conventional western medicine therapy can improve the lumbar pain of LDH patients in acute inflammatory stage, reduce the level of inflammatory factors, improve clinical efficacy.

Aiming at the medical service robot used in the indoor environment, this study proposes a method to test the pose accuracy of its working surface based on the binocular vision system. This method uses a binocular vision coordinate system to measure targets fixed on the working surface of the service robot, aligns the measurement system with the robot base coordinate system through the nonlinear least squares method, and integrates the multi-eye image data to achieve the accuracy test of the working surface. Finally, the vision test program was tested and verified on a mobile service robot model ABIR X8. According to the accuracy index given in GB/T 38124 Service Robot Performance Test Method, the test results of its pose accuracy were obtained.
Optical Devices ; Robotics ; Vision, Binocular

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OBJECTIVE： To establish a method for simultaneous determination of α-pinene， β-pinene， limonene and α-terpineol in volatile oil of Forsythia suspensa. METHODS： GC method was adopted. The determination was performed on HP-5 capillary column through temperature-programmed route. The inlet temperature was 230 ℃， and detector temperature was 250 ℃； split sampling was applied （split ratio of 8 ∶ 1）； the air flow rate was 300 mL/min， the hydrogen flow rate was 30   mL/min， the tail gas flow rate was 30 mL/min， and the injection volume was 1 μL. Using limonene as internal reference， relative correction factors of α-pinene， β-pinene and α-terpineol were established， and the reproducibility of relative correction factors were investigated by using different chromatographs and columns， and chromatographic peak location of components was measured. The contents of above components were calculated with QAMS， and then compared with the results of external standard method. RESULTS： The linear range of α-pinene， β-pinene， limonene and α-terpineol were 16.5-990.0， 38.1-2 287.5， 8.2-491.2， 2.4-142.5  μg/mL， respectively （r≥0.999 1）. RSDs of precision， reproducibility and stability tests were all lower than 3％ （n＝6）. Average recoveries were 99.7％-105.5％（RSD＜4％，n＝9）. Compared with limonene （1.00），the average relative correction factors of α-pinene， β-pinene and α-terpineol were 0.91，0.86 and 1.11（n＝3）； relative retention time were 0.69-0.74， 0.81-0.86， 1.25-1.35（RSD＜3％，n＝3）. By using different chromatographs and columns， RSDs of relative correction factors were 0.21％-4.65％（n＝6）. Compared with external standard method， determination results of above 4 components were consistent （the absolute value of relative error were all less than 7％）. CONCLUSIONS： QAMS can be used for simultaneous determination of 4 kinds of effective components in volatile oil from F. suspensa.

Marine sponges of the genus are well known as rich sources of diverse and complex biologically relevant natural products, including alkaloids, terpenoids, peptides, lipids, and steroids. Some of these metabolites, with novel structures and promising biological activities, have attracted a lot of attention from chemists seeking to perform their total synthesis in parallel to intensive biological studies towards new drug leads. In this review, we summarized the distribution of the chemically investigated sponges, the isolation, synthesis and biological activities of their secondary metabolites, covering the literature from 1982 to early 2018.

Aim To examine the effect of zacopride,a specific inward rectifier potassium channel(IK1)agonist,on L-thyroxine(T4)-induced ventricular remodeling and the underlying mechanism.Methods SD rats were randomly divided as control,L-thyroxine(L-thy,1 mg·kg-1·d-1,ig,10 d)model,L-thy +zacopride(5,15,50 μg·kg-1,respectively,ip),L-thy+zacopride(15 μg·kg-1)+chloroquine(7.5 μg·kg-1,ip)and L-thy+captopril(100 mg·kg-1·d-1,drinking water)groups.Echocardiography and cardiac hypertrophic indexes were measured to confirm the establishment of the ventricular remodeling model.The changes of IK1 and L-calcium current(ICa-L)were detected by whole cell patch clamp technique.The confocal microscopy and fluorescent indicator Fluo-4 were applied to examine the intracellular Ca2+ concentration([Ca2+]i)of isolated adult rat ventricular myocytes.Results L-thyroxine induced left ventricular hypertrophy with increased ratio of heart weight(HW)to body weight(HW·BW-1),ratio of left ventrical weight(LVW)to body weight(LVW·BW-1),left ventricular dimension in diastole(LVIDd),left ventricular dimension in systole(LVIDs),interventricular septum thickness(IVS)and decreased ejection fraction(EF),fractional shortening(FS)(P<0.01).Patch clamp data suggested IK1 was downregulated,while ICa-L was upregulated(P<0.01).In isolated adult cardiomyocytes,L-thyroxine increased the cell area and [Ca2+]i(P<0.01).Zacopride treatment obviously alleviated cardiac remodeling,improved cardiac function,reversed the changes of IK1 and ICa-L,and significantly attenuated intracellular calcium overload(P<0.01).The optimum dose of zacopride in vivo was 15 μg·kg-1 at which the effect was compared favourably with captopril,a classical anti-remodeling agent.Low-dose IK1 atagonist chloroquine could reverse the effect of zacopride(P<0.01).Conclusion Via activating IK1,zacopride could significantly decrease Ca2+ influx and intracellular calcium overload thereby inhibiting L-thyroxine-induced cardiac ventricular remodeling.

Objective To evaluate the value of CT Angiography (CTA)in the diagnosis of cerebral aneurysms in patients with a-cute subarachnoid hemorrhage (SAH )with Meta analysis.Methods A systematic search in PubMed,MEDLINE,EMBASE, CNKI,CBM,WANFANG databases was performed.Criteria for inclusion were established based on validity criteria for diagnostic research published by the Cochrane Methods Group on Screening and Diagnostic.The methodological quality of each study was eval-uated by QUADAS.Meta-Disc Version 1.4 software were used for heterogeneity test and the pooled weighted sensitivity,specifici-ty,positive likelihood ratio,negative likelihood ratio and 95% confidence intervals were calculated,receiver operating characteristic (SROC)and area under the curve(AUC)were obtained with random-effects models.Stata12.0 was used for the funnel plot to ana-lyze publication bias.Results Fourteen studies were included with a total of 1 332 patients and 1 149 ruptured cerebral aneurysms. The pooled weighted sensitivity and specificity of CTA with 95% confidence interval was 0.96(0.95-0.97)and 0.99(0.97-1.00) respectively.The AUC and the Q value of SROC was 0.99 and 0.958 4 respectively.Conclusion CTA has high sensitivity and spe-cificity in the diagnosis of cerebral aneurysms in patients with SAH,can be proposed as an important imaging diagnostic method.

Objective To study the effects of transcranial magnetic stimulation (TMS) on learning and memory, and angiogenesis and the dendritic structure of hippocampal CA3 pyramidal neurons after cerebral infarction. Methods Forty-eight male Sprague-Dawley rats were divided into a sham operated group, a model group and a TMS group (n = 16). Rat models of focal cerebral infarction were established with unilateral middle cerebral artery (MCA) suture occlusion in the model and TMS groups. The rats of the TMS group were given 4 weeks of TMS treatment beginning 1 day after the infarction (2 times per day, 30 pulses per time). Their learning and memory abilities were tested with a Y-maze. Angiogenesis and the dendritic structure of their hippocampal CA3 pyramidal neurons were detected after 4 weeks. Results Compared with the model group, learning and memory improved significantly in the TMS group. The average microvessel density of the hippocampus in the TMS group was significantly more than in the model group. The total length of apical dendrites of hippocampal CA3 pyramidal neurons in TMS group was significantly longer than in the model group. Conclusions The improved learning and memory observed following TMS treatment are likely to be related to changes in angiogenesis, the dendritic.structure of the hippocampal CA3 pyramidal neurons, and enhanced synaptic plasticity.