GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.

BACKGROUND: Over 20 million colonoscopies are performed in China annually. An automatic clinical decision support system (CDSS) with accurate semantic recognition of colonoscopy reports and guideline-based is helpful to relieve the increasing medical burden and standardize the healthcare. In this study, the CDSS was built under a hierarchical-label interpretable classification framework, trained by a state-of-the-art transformer-based model, and validated in a multi-center style. METHODS: We conducted stratified sampling on a previously established dataset containing 302,965 electronic colonoscopy reports with pathology, identified 2041 patients' records representative of overall features, and randomly divided into the training and testing sets (7:3). A total of five main labels and 22 sublabels were applied to annotate each record on a network platform, and the data were trained respectively by three pre-training models on Chinese corpus website, including bidirectional encoder representations from transformers (BERT)-base-Chinese (BC), the BERT-wwm-ext-Chinese (BWEC), and ernie-3.0-base-zh (E3BZ). The performance of trained models was subsequently compared with a randomly initialized model, and the preferred model was selected. Model fine-tuning was applied to further enhance the capacity. The system was validated in five other hospitals with 3177 consecutive colonoscopy cases. RESULTS: The E3BZ pre-trained model exhibited the best performance, with a 90.18% accuracy and a 69.14% Macro-F1 score overall. The model achieved 100% accuracy in identifying cancer cases and 99.16% for normal cases. In external validation, the model exhibited favorable consistency and good performance among five hospitals. CONCLUSIONS The novel CDSS possesses high-level semantic recognition of colonoscopy reports, provides appropriate recommendations, and holds the potential to be a powerful tool for physicians and patients. The hierarchical multi-label strategy and pre-training method should be amendable to manage more medical text in the future.
Humans ; Colonoscopy/methods* ; Deep Learning ; Decision Support Systems, Clinical ; Female ; Male

Influenza has caused high morbidity and mortality worldwide, seriously endangering human health and life. The continuous mutation of influenza virus has brought new challenges to the prevention and treatment of influenza. Animal models provide convenience for a comprehensive understanding of influenza virus pathogenesis, transmission mechanism, vaccine development, and evaluation of therapeutic effects. The construction and use of animal models of influenza virus infection vary in different studies, and the application of different animal models also has its own characteristics. This article reviewed the current status of the construction and use of various animal models, and summarized the advantages and limitations of animal models in evaluating the efficacy of antibodies, drugs and vaccines, with the aim of providing reference for the selection and optimization of animal models in the future.

Objective:To investigate the relationship between cognitive function and brain event-related potential in patients with lacunar cerebral infarction.Methods:A total of 464 patients with lacunar cerebral infarction admitted to the Department of Neurology, Kailuan General Hospital from 2014 to 2019 were prospectively selected as observation subjects (case group). According to mini-mental state examination (MMSE) score, the patients in the case group were divided into 352 cases of lacunar cerebral infarction with normal cognition and 112 cases of mild cognitive impairment. At the same time, 100 healthy volunteers were selected as the control group. All subjects were assessed by simple intelligent mental state, Zung self-rating anxiety scale, Zung self-rating depression scale and brain event-related potential P3a and P3b. The measurement data of normal distribution adopts one-way ANOVA, the measurement data of non normal distribution adopts Kruskal Wallis H test, and the counting data adopts χ2. Multivariate statistical analysis was performed by unconditional Logistics (stepwise method). Results:The proportions of smokers in control group, lacunar cerebral infarction cognitive normal group and lacunar cerebral infarction mild cognitive impairment group were 20.00% (20/100), 38.07% (134/352) and 46.42% (52/112), respectively. The proportions of drinkers were 18.00% (18/100), 33.24% (117/352), 33.93% (38/112), respectively. The proportions of hypertension were 38.00% (38/100), 58.24% (205/352), 59.82% (67/112), respectively. The proportions of hyperhomocysteinemia were 19.00% (19/100), 34.00% (120/352) and 68.75% (77/112), respectively, and the differences among the three groups were statistically significant ( χ2 values were 15.66, 7.91, 11.86 and 54.57, respectively; P<0.001, 0.019, 0.003, <0.001). The peak latency CZ leads of visual P3b wave group N2 were (271.48±40.65), (285.67±44.08) and (290.57±68.41) ms, respectively. PZ leads were (276.70±50.92), (287.86±43.28) and (312.16±62.75) ms. P3b peak latency FZ leads were (392.67±42.50), (405.82±52.43) and (410.34±64.27) ms. CZ leads were (395.04±42.44), (412.51±55.86) and (433.28±66.32) ms. PZ leads were (398.24±40.93), (411.17±49.48) and (435.78±67.69) ms. N2 amplitude CZ leads were (-3.99±2.81), (-3.60±3.00) and (-2.70±2.37) μV, PZ leads were (-3.18±2.69), (-2.91±2.62) and (-1.87±2.89) μV, respectively. Leads P3b amplitude of FZ were 5.27 (3.27, 7.40), 4.21 (2.31, 6.49) and 3.12 (1.61, 5.08) μV. CZ leads were 4.81 (2.78, 6.71), 4.15 (2.76, 6.16) and 3.51 (1.75, 5.15) μV. PZ leads were 5.17 (3.03, 6.97), 4.40 (2.89, 6.12) and 3.43 (1.52, 5.34) μV. There were statistically significant differences among the 3 groups ( F=3.29, 14.49, 3.95, 11.73, 14.06, 5.66 and 3.57, H=18.23, 10.33,18.25; P=0.027, <0.001, 0.025, <0.001, <0.001, 0.004, 0.042, <0.001, 0.006, <0.001). The peak latency FZ leads of visual P3a wave group N2 were 265.00 (256.00, 286.00), 277.00(260.00,300.00), 282.00(270.00,304.00) ms, respectively. CZ leads weres 274.00(255.00,305.00), 285.00(262.00,329.00), 293.50(270.00,346.00) ms. P3a peak latency FZ leads were (413.83±49.58), (429.83±55.38) and (449.04±54.79) ms, CZ leads were (441.53±61.78), (457.12±69.29) and (460.23±72.24) ms. PZ leads were (430.14±54.53), (462.31±69.2) and (470.02±74.92) ms. N2 amplitude FZ leads were (-6.34±3.13), (-5.72±2.96) and (-4.92±2.05) μV, respectively. Leads P3a amplitude of FZ were 4.00 (2.28, 5.55), 3.15 (2.14, 4.91) and 2.80 (2.19, 4.19) μV. CZ lead were 3.37 (1.98, 4.66), 2.73 (1.70, 3.97) and 2.41 (1.64, 3.45) μV. There were statistically significant differences among the three groups ( H=13.92, 8.65, 9.17, 10.02, F=8.18, 6.33, 10.73, 4.62, P =0.001,0.013,0.010,0.007, <0.001,0.002, <0.001,0.010). Logistic regression analysis showed that alcohol consumption, P3b peak latency and wave amplitude PZ lead, N1 wave amplitude of visual P3a group FZ lead were the influencing factors of MMSE ( OR=0.04, 1.01, 0.76, 1.51, 95% Cl were 0.00-0.30, 1.00-1.03, 0.59-0.97, 1.08-2.10, P=0.002,0.007,0.029,0.016). Conclusion:The peak latency and amplitude of endogenous psychological cognitive potentials N2, P3b and P3a of event-related potentials P3b and P3a in patients with lacunar cerebral infarction were prolonged and decreased. At the same time, with the occurrence of clinical cognitive impairment, the peak latency and amplitude of these cognitive potentials were further prolonged and decreased more significantly. Alcohol consumption, P3b peak latency and PZ lead of visual P3b wave group, and FZ lead of N1 wave of visual P3a wave group were the influencing factors of simple intelligent mental state.

The genus Rosa (Rosaceae family) includes about 200 species spread in the world, and this genus shows unique advantages in medicine and food. To date, several scholars concentrated on compounds belonging to flavonoids, triterpenes, tannins, polysaccharide, phenolic acids, fatty acids, organic acids, carotenoids, and vitamins. Pharmacological effects such as antineoplastic and anti-cancer properties, anti-inflammatory, antioxidant, liver protection, regulate blood sugar, antimicrobial activity, antiviral activity, as well as nervous system protection and cardiovascular protection were wildly reported. This article reviews the chemical constituents, pharmacological effects, applications and safety evaluations of Rosa plants, which provides a reference for the comprehensive utilization of medicine and food resources and gives a scientific basis for the development of medicinal plants of the genus Rosa.

Objective:To investigate the relationship between the activation level of Nod-like receptor pyrin domain-containing 3 (NLRP3) inflammasome and the change of cognitive functions in patients with acute ischemic stroke.Methods:A total of 88 patients with acute ischemic stroke in Department of Neurology from October 2018 to July 2020 were selected as case group and 100 healthy physical examinees were selected as control group.Peripheral blood of the case group and the control group was collected, and peripheral blood mononuclear cells (PBMCs) were isolated by centrifugation.Then the NLRP3, apoptosis-associated speck-like protein containing a CARD (ASC), Caspase-1 and interleukin-1β (IL-1β) expression were detected by Western blot.The cognitive function of patients with acute ischemic stroke was detected by Montreal Cognitive Assessment (MoCA). The differences in expression levels of NLRP3, ASC, Caspase-1 and IL-1β were compared between the case group and the control group.Pearson correlation analysis was used to analyze the correlation between expression levels of NLRP3, ASC, Caspase-1, IL-1β and MoCA score.Logistic multivariate regression was used to analyze the relationship between expression levels of NLRP3, ASC, caspase-1, IL-1β and the cognitive dysfunction.Results:(1)Western blot results showed that NLRP3, ASC, Caspase-1 and IL-1β expressions in PBMCs cells in the case group were higher than those in the control group (all P<0.05). (2)The expression level of NLRP3 in stroke patients with hypertension, hyperlipidemia, National Institutes of Health Stroke Scale (NIHSS) score ≥ 8 points was significantly higher than that in patients without hypertension, hyperlipidemia and NIHSS score<8 points ( P<0.05); (3)The incidence of cognitive dysfunction in the case group was 34.09% (30/88). The MoCA scores of the cognitive dysfunction group and the non-cognitive dysfunction group were 20 (24, 28) and 27 (26, 28) points respectively, and the difference between the groups was statistically significant ( P<0.05); (4)Pearson correlation analysis showed that NLRP3, ASC, caspase-1 and IL-1β expression in PBMCs cells were negatively correlated with MoCA scores ( r=-0.426, -0.396, -0.417, -0.320 respectively, all P<0.05). (5)Logistic regression analysis showed that hyperlipidemia, NIHSS scores, frontotemporal lobe infarction, and NLRP3 expression were the influencing factors for the occurrence of cognitive dysfunction (all P<0.05). Conclusion:Patients with acute ischemic stroke have high activated NLRP3 inflammasome, and its activation degree is closely related to the condition and the occurrence of cognitive dysfunction after stroke.Targeted inhibition or regulation of NLRP3 inflammasome activation may become a new idea of neuroprotection for acute ischemic stroke.

Objective:To analyze the changes of cerebral perfusion level and its relationship with cognitive impairment in patients with first anterior circulation acute ischemic post-stroke cognitive impairment.Methods:From March 2018 to March 2020, 70 patients with acute ischemic stroke in the first anterior circulation who were treated in the Department of Neurology of Kailuan General Hospital affiliated to North China University of Technology and met the inclusion and exclusion criteria were retrospectively analyzed.The mini-mental state examination was used to divide 36 cases of post-stroke cognitive impairment group and 34 cases of post-stroke cognitive impairment group.All the selected patients were examined by computed tomography(CT) and diffusion-weighted MR imaging(MRI-DWI) to determine the diagnosis and distribution of lesions; detection of cerebral artery stenosis by MRA; apply 3D pseudo-continuous arterial spin labeling(3D-pCASL) perfusion imaging, set the post label delay 1.5 s and 2.5 s to detect cerebral perfusion level.Results:(1)There was no statistical significance between the two groups in the comparison of basic clinical data.(all P>0.05). (2) The proportion of patients with middle cerebral artery, anterior cerebral artery and internal carotid artery ≥1 or ≥2 moderate and severe stenosis / occlusion on the focal side in the post-stroke cognitive impairment group (91.67%(33/36), 33.33%(12/36)) was higher than that in the post-stroke non-cognitive impairment group (23.53%(8/34), 8.82%(3/34)); the proportion of patients with moderate and severe stenosis / occlusion of MCA and ICA on the focal side in the post-stroke cognitive impairment group (69.44%(25/36), 44.44%(16/36)) was higher than that in the post-stroke cognitive impairment group (14.71%(5/34), 11.76%(4/34)), and the difference was statistically significant(χ 2 values were 33.455, 6.239, 21.394, 9.150, all P<0.05). (3) The proportion of patients with ≥ 2 cerebral infarction lesions in the post-stroke cognitive impairment group (61.1%(22/36))was higher than that in the post-stroke cognitive impairment group (38.03%(27/71))than that in the non-stroke group (20.6%(7/34), 19.05%(8/42)), and the difference was statistically significant(χ 2=11.833, 4.447, all P<0.05). PLD 2.5 s, the CBF value of frontal lobe infarction in post-stroke cognitive impairment group((31.516±8.333) mL/(100 g·min)) was lower than that in post-stroke non-cognitive impairment group((45.442±8.281) mL/(100 g·min)), the difference was statistically significant( t=3.835, P<0.05). Correlation analysis showed that the CBF value of PLD 2.5 s frontal infarction lesion was positively correlated with MMSE score( r=0.738, P<0.05). (4) The proportion of patients with ≥ 1 or ≥ 2 hypoperfusion areas (frontal lobe, temporal lobe, parietal lobe) on the focal side of PLD 1.5 s and 2.5 s after stroke (88.89%(32/36), 88.89%(32/36), 77.78%(28/36), 66.67%(24/36)) were higher than those without cognitive impairment after stroke (67.65%(23/34), 8.82%(3/34), 29.41%(10/34), 0), the difference was statistically significant(χ 2 values were 4.686, 44.837, 16.483, 34.493, all P<0.05). At PLD 1.5 s, CBF values of frontal lobe and parietal lobe in cerebral hypoperfusion area ((20.260±5.266) mL/(100 g·min), (17.664±3.947) mL/(100 g·min)) in patients with cognitive impairment after stroke were lower than those in patients without cognitive impairment ((33.442±10.563) mL/(100 g·min), (28.071±6.913) mL/(100 g·min)), the difference was statistically significant( t values were 3.392, 6.225, all P<0.05), at PLD 2.5 s, the CBF value after compensatory perfusion of frontal lobe, parietal lobe and temporal lobe in the post-stroke cognitive impairment group ((37.732±8.355) mL/(100 g·min), (32.942±6.459) mL/(100 g·min), (39.282±7.443) mL/(100 g·min)) was lower than that in the non cognitive impairment Group ((57.189±9.965) mL/(100 g·min), (52.415±7.017) mL/(100 g·min), (49.258±8.912) mL/(100 g·min)), the difference was statistically significant( t values were 5.443, 10.227, 2.950, all P<0.05). Correlation analysis found that the CBF value of the frontal lobe and parietal lobe of the PLD 1.5 s lesion area and the CBF value of the PLD 2.5 s hypoperfusion brain area after the perfusion of the frontal lobe, parietal lobe, and temporal lobe were positively correlated with the MMSE score( r values were 0.693, 0.675, 0.823, 0.799, 0.545, all P<0.05). Conclusion:Patients with first anterior circulation acute ischemic post-stroke cognitive impairment often have extensive hypoperfusion in the peripheral cerebral region, the occurrence of cognitive impairment after the first anterior circulation acute ischemic post-stroke cognitive impairment is related to the decrease of the perfusion level of the infarct lesion and the brain area around the lesion.

Currently, hepatitis E virus (HEV) infection is diagnosed mainly by the detection of HEV-specific IgM/IgG or HEV RNA. In recent years, the method for detecting HEV antigen (HEV-Ag) has been developed based on the study of the structure and immunity of HEV virion protein. This article reviewed the development of ELISA for HEV-Ag detection and the significance and application of HEV-Ag detection in the diagnosis of HEV infection.

Objective: To investigate the serum expression and influencing factors of hepcidinin patients with classical paroxysmal nocturnal hemoglobinuria (PNH) . Methods: Retrospective analysis of 36 classical PNH patients from 2016.3 to 2017.3. Serum hepcidin concentration was measured by ELISA method. The relationship between serum hepcidin concentration and erythropoiesis and iron homeostasis parameters was evaluated. Results: The median serum hepcidin level of 36 classical PNH patients was 32.03 (23.11, 118.48) μg/L, it was significantly lower than of 181.42 (106.80, 250.53) μg/L in 292 normal control subjects (z=-5.107, P<0.001) . The median serum hepcidin of 56.41 (44.60, 95.06) μg/L in PNH patients with normal ferritin was significantly lower than that in normal controls. The median serum hepcidin concentration 23.75 (21.77, 30.35) μg/L in iron deficiency PNH patients was lower than that in the normal ferritin PNH patients. However, the median serum hepcidin level of classical PNH with elevated ferritin patients 336.19 (304.19, 375.08) μg/L was significantly higher not only than that of normal ferritin and iron deficiency PNH ones, but also than that of normal control subjects. Regression analysis showed that serum ferritin, transferrin saturation and serum albumin level were independent influencing factors of serum hepcidin level in patients with classical PNH. Conclusion The decreased serum hepcidin level in patients with classical PNH was mainly influenced by iron metabolism factors.

Objective To study the optical imaging quality of multifocal intraocular lens (IOL) following Nd∶YAG laser damage.Methods Three hydrophobic acrylate discs used to make multifocal IOL were placed in line,and the Nd∶YAG laser was used to emit the posterior surface,mid-plane and anterior surface of the discs by gradually increasing the emitting energy to determine the damaged threshold energy of various planes.Eight multifocal IOLs were divided into 2 groups.IOL damage models were established by emitting 12 points along 12 clocks on circle of 3.0 mm in diameter in the group 1 (IOLs NO.1,2,3,4) and 6 points with 1-clock interval on circle of 1.0 mm in diameter in the group 2 (IOLs NO.5,6,7,8) with Nd∶YAG laser.The modulation transfer function (MTF),line spread function (LSF) and United States air force (USAF) test target images of the IOLs were tested under the optical aperture at 2.0,3.0 and 4.5 mm.Results The damage thresholds of laser power were not significantly different among three hydrophobic acrylate discs (Fgroup =1.100,P =0.337),and the thresholds were significantly different among different planes in the discs (Fposition =195.279,P=0.000),with the highest damage threshold in the anterior surface and the lowest damage threshold in the mid-plane of the discs(all at P＜0.01).The shifts of far focus and near focus MTF curves,LSF curves and USAF target images of the IOLs under the 2.0,3.0 and 4.5 mm optical aperture after laser damage were in coincidence with those before laser damage both in group 1 and group 2.The glare phenomenon of the USAF target image was observed at near focus under the 4.5 mm optical aperture both before and after laser damage.Conclusions Multifocal IOL is vulnerable to injury when the laser beam focuses on the midplane,and the anterior surface of IOL can tolerate certain degree of damage.In standard model eye,the MTF curves,LSF curves and USAF target images of multifocal IOL was not impacted by laser induced spots injuries under different pupil diameters.