摘要
【Objective】 To identify and analyze a case of ABO discrepancy between forward and reverse blood grouping, and to provide reference for the identification of ambiguous blood group in clinical. 【Methods】 ABO and Rh blood group typing, absorption and elution test, and gene sequencing were performed to confirm the ambiguous blood group. 【Results】 The sample was identified by absorption and elution test and molecular biological method to be Ael subtype, and was named ABO*AEL.05/ABO*O.01.01 by ISBT. After family investigation, the proband and her second son share the same characteristic mutation site, and was named ABO*AEL.05/ABO*B.01.01 by ISBT. 【Conclusion】 Multiple blood group serological tests and molecular biology tests help to identify ABO subtypes, thus assuring the safety, scientificity and rationality of clinical blood transfusion.
摘要
OBJECTIVE@#To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS).@*METHODS@#A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected. Genetic testing was carried out for the child, and the result was analyzed in the light of literature review to explore the clinical and genetic characteristics to facilitate early identification.@*RESULTS@#The patient, a 3-year-old male, had mainly presented with visual impairment, progressive cognitive and motor regression, and epilepsy. Cranial magnetic resonance imaging revealed deepened sulci in bilateral cerebral hemispheres, and delayed myelination. The activity of palmitoyl protein thioesterase was low (8.4 nmol/g/min, reference range: 132.2 ~ 301.4 nmol/g/min), whilst serum ferritin was increased (2417.70 ng/mL, reference range: 30 ~ 400 ng/ml). Fundoscopy has revealed retinal pigment degeneration. Whole exome sequencing revealed that he has harbored c.280A>C and c.124-124+3delG compound heterozygous variants of the PPT1 gene, which were respectively inherited from his father and mother. Neither variant has been reported previously. The child has also harbored a heterozygous c.-160A>G variant of the FTL gene, which was inherited from his father. Based on the clinical phenotype and results of genetic testing, the child was diagnosed as CLN1 and HHCS.@*CONCLUSION@#The compound heterozygous variants of the PPT1 gene probably underlay the disorders in this child. For children with CLN1 and rapidly progressing visual impairment, ophthalmological examination should be recommended, and detailed family history should be taken For those suspected for HHCS, genetic testing should be performed to confirm the diagnosis.
Subject(s)
Child, Preschool , Humans , Male , Cataract/genetics , Genetic Testing , Mutation , Neuronal Ceroid-Lipofuscinoses/pathology , Vision Disorders/genetics摘要
Human-animal interaction has a long-standing tradition dating back to ancient times. With the rapid advancements in intelligent chips, wearable devices, and machine algorithms, the intelligent interaction between animals and electronic technology, facilitated by electronic devices and systems for communication, perception, and control, has become a reality. These electronic devices aim to implement an animal-centric working mode to enhance human understanding of animals and promote the development of animal intelligence and creativity. This article takes medium-sized and large animals as research objects, with the goal of developing their ability enhancement, and introduces the concept of “intelligent animal augmentation system (IAAS)”. This concept is used to describe the characteristics of such devices and provides a comprehensive overview of existing animal and computer interface solutions. In general, IAAS can be divided into implantable and non-implantable types, each composed of interface platforms, perception and interpretation, control and instruction components. Through various levels of enhancement systems and architectural patterns, intelligent interaction between humans and animals can be realized. Although existing IAAS still lack a complete independent interaction system architecture, they hold great promise and development space in the future. Not only can they be applied as substitutes for cutting-edge devices and transportation equipment, but they are also expected to achieve cross-species information interaction through intelligent interconnection. Additionally, IAAS can promote bidirectional interaction between humans and animals, playing a significant role in advancing animal ethics and ecological protection. Furthermore, the development of interaction models based on animal subjects can provide insightful research experiences for the design of human-computer interaction systems, thereby contributing to the more efficient realization of the ambitious goal of human-machine integration.
摘要
Polycystin-2 (also known as PC2, TRPP2, PKD2) is a major contributor to the underlying etiology of autosomal dominant polycystic kidney disease (ADPKD), which is the most prevalent monogenic kidney disease in the world. As a transient receptor potential (TRP) channel protein, PC2 exhibits cation-permeable, Ca2+-dependent channel properties, and plays a crucial role in maintaining normal Ca2+ signaling in systemic physiology, particularly in ADPKD chronic kidney disease. Structurally, PC2 protein consists of six transmembrane structural domains (S1-S6), a polycystin-specific “tetragonal opening for polycystins” (TOP) domain located between the S1 and S2 transmembrane structures, and cytoplasmic N- and C-termini. Although the cytoplasmic N-terminus and C-terminus of PC2 may not be significant in the gating of PC2 channels, there is still much protein structural information that needs to be thoroughly investigated, including the regulation of channel function and the assembly of homotetrameric ion channels. This is further supported by the presence of human disease-associated mutation sites on the PC2 structure. Moreover, PC2 synthesized in the endoplasmic reticulum is enriched in specific subcellular localization via membrane transport and can assemble itself into homotetrameric ion channels, as well as form heterotrimeric receptor-ion channel complexes with other proteins. These complexes are involved in a wide range of physiological functions, including the regulation of mechanosensation, cell polarity, cell proliferation, and apoptosis. In particular, PC2 assembles with chaperone proteins to form polycystic protein complexes that affect Ca2+ transport in cell membranes, cilia, endoplasmic reticulum, and mitochondria, and are involved in activating cell fate-related signaling pathways, particularly cell differentiation, proliferation, survival, and apoptosis, and more recently, autophagy. This leads to a shift of cystic cells from a normal uptake, quiescent state to a pathologically secreted, proliferative state. In conclusion, the complex structural and functional roles of PC2 highlight its critical importance in the pathogenesis of ADPKD, making it a promising target for therapeutic intervention.
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OBJECTIVE@#To evaluate the diagnostic value of the expression levels of cytokines interleukin-6(IL-6), interleukin-10 (IL-10) and chemokine （C-X-C motif） ligand-13 (CXCL-13) in cerebrospinal fluid (CSF) for central nervous system infiltration of lymphoma.@*METHODS@#Forty patients diagnosed as lymphoma or acute lymphoblastic leukemia in General Hospital of Northern Theater Command from July 2020 to July 2021 were collected and recorded their CSF indexes, including pressure, protein, Pandy test, nucleated cell count, glucose and chlorine content in CSF. The levels of cytokines IL-6, IL-10 and CXCL-13 were detected by Enzyme-linked immunosorbent assay.@*RESULTS@#The patients were divided into CNSI (central nervous system infiltration) group and non-CNSI group, the average levels of IL-6, IL-10, CXCL-13 and IL-10/IL-6 ratio in CNSI group were higher than those in non-CNS group, but the difference of IL-10/IL-6 ratio between the two groups was statistically significant (P<0.05). Then the patients were divided into protein elevated(n=14) group and protein normal group(n=26), the levels of IL-6 ［ (5.78±2.69) pg/ ml］ and CXCL-13 ［(0.83±0.59) pg/ml］ in protein elevated group were significantly higher than those in the protein normal group ［IL-6: (2.41±1.16) pg/ml; CXCL-13: (0.38±0.18) pg/ml］ (P<0.05). Further analysis of the expression levels of the cytokines in non-CNSI group (n=32), IL-6, IL-10, CXCL-13 level and IL-10/IL-6 ratio in the protein elevated group (n=12) were higher than those in the protein normal group (n=20), but the difference was not statistically significant.@*CONCLUSION@#The levels of IL-6, IL-10 and CXCL-13 in CSF of lymphoma patients with CNS infiltration were higher than those in non-CNS infiltration group, and those in patients with protein elevated group are higher than those in the protein normal group.
Subject(s)
Humans , Central Nervous System , Cytokines , Interleukin-10 , Interleukin-6 , Lymphoma摘要
@#Objective To provide experimental data and theoretical support for further studying the maturity of cardiac patches in other in vitro experiments and the safety in other in vivo animal experiments, through standard chemically defined and small molecule-based induction protocol (CDM3) for promoting the differentiation of human induced pluripotent stem cells (hiPSCs) into myocardium, and preliminarily preparing cardiac patches. Methods After resuscitation, culture and identification of hiPSCs, they were inoculated on the matrigel-coated polycaprolactone (PCL). After 24 hours, the cell growth was observed by DAPI fluorescence under a fluorescence microscope, and the stemness of hiPSCs was identified by OCT4 fluorescence. After fixation, electron microscope scanning was performed to observe the cell morphology on the surface of the patch. On the 1st, 3rd, 5th, and 7th days of culture, the cell viability was determined by CCK-8 method, and the growth curve was drawn to observe the cell growth and proliferation. After co-cultured with matrigel-coated PCL for 24 hours, hiPSCs were divided into a control group and a CDM3 group, and continued to culture for 6 days. On the 8th day, the cell growth was observed by DAPI fluorescence under a fluorescence microscope, and hiPSCs stemness was identified by OCT4 fluorescence, and cTnT and α-actin for cardiomyocyte marker identification. Results Immunofluorescence of hiPSCs co-cultured with matrigel-coated PCL for 24 hours showed that OCT4 emitted green fluorescence, and hiPSCs remained stemness on matrigel-coated PCL scaffolds. DAPI emitted blue fluorescence: cells grew clonally with uniform cell morphology. Scanning electron microscope showed that hiPSCs adhered and grew on matrigel-coated PCL, the cell outline was clearly visible, and the morphology was normal. The cell viability assay by CCK-8 method showed that hiPSCs proliferated and grew on PCL scaffolds coated with matrigel. After 6 days of culture in the control group and the CDM3 group, immunofluorescence showed that the hiPSCs in the control group highly expressed the stem cell stemness marker OCT4, but did not express the cardiac markers cTnT and α-actin. The CDM3 group obviously expressed the cardiac markers cTnT and α-actin, but did not express the stem cell stemness marker OCT4. Conclusion hiPSCs can proliferate and grow on matrigel-coated PCL. Under the influence of CDM3, hiPSCs can be differentiated into cardiomyocyte-like cells, and the preliminary preparation of cardiac patch can provide a better treatment method for further clinical treatment of cardiac infarction.
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Objective To investigate the correlation of IL-6-572GC mutation with the incidence and severity of CHD in the Han elderly in Henan Province.Methods A total of 446 elderly CHD pa-tients of Han majority in Henan Province who were admitted to Department of Cardiovascular Diseases of our hospital from January 2020 to December 2022 were enrolled as the study group,and 218 healthy elderly patients taking physical examination in the same period were selected as the control group.The genotypes of IL-6-174GC,IL-6-572GC and IL-6-597GA were detected in the two groups.Logistic regression analysis was used to analyze the relationship between IL-6-572G/C gene polymorphism and CHD in the elderly,as well as the correlation between IL-6-572GC genotype and the severity of CHD.Results Larger proportions of hypertension and diabetes and higher LDL-C level,but lower HDL-C level were observed in the study group than the control group(P＜0.05,P＜0.01).There were three genotypes at IL-6-174GC locus(GG,GC and CC),three genotypes at IL-6-572GC locus(GG,GC and CC),and three genotypes at IL-6-597GA locus(GG,GA and AA).There were no significant differences in the genotype fre-quencies of IL-6-174GC and IL-6-597GA between the two groups(P＞0.05),but there was a sig-nificant difference in the genotype frequency of IL-6-572GC(P＜0.01)and the genotype frequen-cy of GG was significantly lower in the study group than the control group(33.18％vs 46.82％,P＜0.01).Logistic regression analysis showed that IL-6-572GC(OR=1.534,95％CI:1.180-1.995),hypertension(OR=1.442,95％CI:1.033-1.957),diabetes(OR=1.610,95％CI:1.083-2.391),HDL-C(OR=0.467,95％CI:0.266-0.818)and LDL-C(OR=2.004,95％CI:1.104-3.636)were all influencing factors of CHD(P＜0.05,P＜0.01).At IL-6-572GC locus,the inci-dence of single branch lesions was higher in the carriers of GG genotype than those of GC and CC genotypes,and the incidence of 3-branch lesions was lower than that of CC genotype(P＜0.05).Conclusion The mutation of IL-6-572GC gene is correlated with the incidence and severity of CHD in the elderly Henan Han people,and its mutation also increases the risk and severity of the disease.
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Objective:To investigate the efficacy of Modified Banxia Xiexin Decoction on patients with functional dyspepsia (FD) and its impact on gastric function.Methods:From June 2021 to December 2022, at the Department of Gastroenterology, Wenzhou Central Hospital, a total of 56 patients with FD who met the diagnostic criteria of Rome Ⅳ were prospectively enrolled. The patients were treated with Modified Banxia Xiexin Decoction for 4 weeks. The clinical efficacy was evaluated by the upper gastrointestinal symptom severity index score. The gastric function was assessed by standard gastric loading test of liquid nutrient meal and standard gastric emptying test of solid meal. The total scores of dyspeptic symptoms, the maximal satiety threshold of proximal stomach, the initial satiety threshold of proximal stomach and 5-hour solid gastric emptying rate were compared before and after the treatment. During the treatment and in 4-week follow-up after treatment, the adverse events (such as nausea, diarrhea, dizziness and rash) were observed. Wilcoxon rank sum test and paired sample t-test were used for statistical analysis. Results:After the treatment, 14 FD patients were cured, 22 patients showed significant improvement, 12 patients had response, and 8 patients showed no improvement. The total efficacy rate was 85.71%(48/56). The total score of dyspepsia symptoms after the treatment was lower than that before treatment (3.00(1.00, 4.00) vs. 13.00(8.00, 18.00)), and the difference was statistically significant ( Z=-7.96, P<0.001). After the treatment, the maximal satiety threshold of proximal stomach and 5-hour solid gastric emptying rate were both higher than those before treatment ( (897.45±98.82) mL vs. (588.46±60.26) mL, (87.59±12.74)% vs. (36.59±15.95)%), and the differences were statistically significant ( t=19.98 and 18.70, both P<0.001). The initial satiety threshold of proximal stomach before and after treatment was compared((131.84±52.91) mL vs. (130.0±47.61) mL), and the difference was not statistically significant( P>0.05). No adverse events related to this study were observed during treatment period and in the 4-week follow-up. Conclusions:The Modified Banxia Xiexin Decoction can improve proximal gastric compliance and gastric emptying function in patients with FD. Additionally, it can alleviate dyspeptic symptoms and have good clinical efficacy and high safety.
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Objective:This work aims to analyze the relationship between the 14 weeks′ Infliximab (IFX) treatment trough blood-concentration of IFK and antibodies to infliximab (ATI) concentration and mucosal healing and infusion reactions in the treatment of Crohn disease (CD).Methods:A total number of 119 CD patients who started IFX treatment in DrumTower Hospital affiliated to Nanjing University Medical School from June 2018 to August 2022 were retrospectively included. General data, endoscopic scores, laboratory tests, 14 weeks′ IFX treatment trough concentration and ATI, as well as endoscopic reexamination and clinical responses during follow-up were collected. According to the endoscopic examination results at (32±4) weeks, the two groups′ patients were divided into the mucosal healing group and non-mucosal healing group. The 14 week IFX trough concentration and ATI situation of the two groups were compared. Multiple logistic regression analysis was applied to analyze the risk factors of (32±4) weeks mucosal healing, using (32±4) weeks mucosal healing as the categorical variable, receiver operating curve (ROC) was obtained, and the optimal critical value of 14 week IFX trough concentration was selected.Result:The results of the 14 weeks′ time point indicated that the end-point IFX concentration and baseline albumin concentration in the mucosal healing group ( n=70 cases) were all significantly higher than those in the non-mucosal healing group ( n=49 cases), with values of 5.0 (2.8, 8.7) μg/ml vs 2.2 (0.3, 4.3) μg/ml, (38.7±3.5) g/L vs (36.6±3.8) g/L, respectively. The 14 week effective trough IFX concentration of (32±4) weeks mucosal healing was 2.90 μg/ml, AUC value is 0.704. Multivariate logistic regression analysis showed that 14 week trough IFX concentration≥2.9 μg/ml ( OR=5.369, 95% CI 2.42-11.92) and baseline Alb≥35 g/L ( OR=7.378, 95% CI 2.18-24.99) were significantly correlated with mucosal healing. The positive rate of ATI at 14 weeks′ time-point was 15.1%, and the trough IFX concentration of all the patients with moderate to high concentrations of ATI ( n=21 cases) was<0.4 μg/ml. Twelve patients (10.1%) experienced infusion reactions, and 53 patients (44.5%) had discontinued IFX. Conclusion:The 14 week trough IFX concentration is closely related to (32±4) week endoscopic mucosal healing.
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Atopic dermatitis (AD) is a chronic, relapsing, inflammatory dermatosis with a variety of clinical manifestations and difficult to cure. Currently, many AD drug candidates have entered the research and development pipeline. In order to provide technical specifications for the clinical development of AD drugs, the Center for Drug Evaluation of National Medical Products Administration released the "Technical Guidelines for Clinical Trials of Drugs for AD Treatment" (Draft for Comments) in November 2022. Non-clinical pharmacodynamics evaluation is an important research before the drug enters clinical trials. Oxazolone (OXA)- and 2,4-dinitro-fluorobenzene (DNFB)-induced models are the most popular classical hapten-induced AD murine models, but variations of modeling are existing in the methods from different studies, including sensitization sites, haptens' dosages, the period of challenges, and the skin lesions severity evaluation as well. In this study, the investigation of OXA- and DNFB-induced AD murine models with various conditions of modeling was performed to compare the characteristics of hapten-induced AD murine models in the pathological process and severity according to the appearance of AD patients, and the guidance of pharmacodynamics evaluation of AD-therapeutic drugs in clinical trials as well, which may provide a proposal for AD treatment drug candidates in the non-clinical pharmacodynamics evaluation. All animal experiments were approved by the Animal Care & Welfare Committee of Institute of Materia Medica, Chinese Academy of Medical Sciences and Peking Union Medical College (approval No.: 00007782 and 00007784).
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Clinical data of 26 patients with proton pump inhibitor dependent gastroesophageal reflux disease (GERD) who underwent anti-reflux mucosectomy (ARMS) in Nanjing Drum Tower Hospital from July 2017 to December 2020 were reviewed, and the GERD questionnaire (GERD-Q) score, the short-form reflux-qual (RQS) score, esophageal motility and 24 h esophageal pH parameters before and after ARMS were compared. With a median follow-up period of 18.4 months (6-27 months), 23 (88.5%) patients reported symptomatic improvement and 15 (57.7%) patients discontinued the use of proton pump inhibitors. After ARMS, the mean scores of GERD-Q (6.23 VS 13.19, P=0.004) and RQS (26.67 VS 10.98, P<0.001) were significantly improved, the mean DeMeester score (10.69 VS 53.15, P<0.001), the mean acid exposure time percentage (3.56% VS 9.92%, P<0.001) and the mean number of acid reflux episodes (36.9 VS 139.9, P=0.001) were lower, and the mean rest pressure at lower esophageal sphincter (LES) (25.19 mmHg VS 13.63 mmHg, P<0.001) and the mean distal contractile integral (1 819.15 mmHg·s·cm VS 1 007.67 mmHg·s·cm, P<0.001) were significantly increased compared with those before surgery. ARMS has significant short-term efficacy in the treatment of proton pump inhibitor dependent GERD, which can effectively improve reflux symptoms and life quality of patients, and strengthen the rest pressure of LES and peristalsis of the esophageal body.
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Objective:To evaluate the efficacy of transgastric combined with percutaneous endoscopic treatment for infected pancreatic necrosis (IPN).Methods:Clinical data of 19 IPN patients who received transgastric combined with percutaneous endoscopy at the Gastroenterology Intensive Care Unit of Nanjing Drum Tower Hospital from August 2015 to August 2020 were retrospectively studied. The clinical efficacy and the procedure-related complications were analyzed.Results:The mean procedure of endoscopic transmural drainage (ETD) was 1.1±0.3 times. During ETD procedure, lumen-apposing metal stents (LAMS) were placed in 9 patients, metal coated stents in 2 patients, double pigtail plastic stents in 7 patients, and only a nasal cyst drainage tube in 1 patient. All 19 patients received 12-14 F drainage catheters for drainage during the first percutaneous catheter drainage (PCD) treatment with the mean number of catheters of 1.8±1.2. Double cannulas was subsequently replaced in 3 of them for continuous drainage, and a percutaneous metal coated stent was replaced in 1 patient. The culture results of drainage fluid were 11 cases of gram-negative bacilli and gram-positive cocci, 4 cases of gram-positive cocci, 1 case of gram-positive bacilli, 3 cases of gram-negative bacilli. Among 19 patients, 4 cases had concurrent fungal infections. The mean number of debridement was 3.1±1.8 times, 2 cases of which were treated with endoscopic transluminal necrosectomy combined with percutaneous endoscopic necrosectomy. The mean procedure per patient was 6.1±2.4 times. Bleeding occurred in 1 case (5.3%) after the operation. But the bleeding was successfully stopped after endoscopic hemostasis. No serious complications such as gastrointestinal fistula, perforation or pancreatic fistula occurred. One patient died due to sepsis, and 18 other patients showed significant absorption of IPN after the treatment. None of the 19 patients were transferred to laparotomy.Conclusion:Transgastric combined with percutaneous endoscopic approach is safe and effective for IPN.
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Objective:To investigate the protective effects of overexpression of long-chain noncoding RNA FAM224B on lung tissue of rats with severe pneumonia and the underlying mechanism.Methods:From August 2020 to March 2021, we randomly allocated 20 rats into the pneumonia group (severe pneumonia modeling) and FAM224B group (severe pneumonia modeling + FAM224B plasmid), with 10 rats in each group. We performed a quantitative real-time polymerase chain reaction to detect the level of FAM224B in lung tissue and performed an enzyme-linked immunosorbent assay to detect the levels of tumor necrosis factor-alpha, interleukin-6, and interleukin-1β in lung tissue. We used the software starBase v2.0 to predict the target gene of FAM224B. We performed a quantitative real-time polymerase chain reaction to detect the expression of the target gene in lung tissue and performed a western blot assay to detect the protein expression of the nuclear factor-kappa B signal pathway in lung tissue.Results:FAM224B expression was (1.09 ± 0.23) and (10.12 ± 1.52) in the pneumonia and FAM224B groups, respectively. FAM224B expression was significantly lower in the pneumonia group compared with the FAM224B group ( t = 15.86, P < 0.01). The levels of tumor necrosis factor-alpha, interleukin-6, and interleukin-1β were (41.53 ± 2.46) μg/L, (34.01 ± 2.53) ng/L, (20.92 ± 1.95) μg/L in the pneumonia group and they were (21.71 ± 2.25) μg/L, (17.13 ± 3.01) ng/L, (11.97 ± 1.21) μg/L in the FAM224B group. There were significant differences in the levels of tumor necrosis factor-alpha, interleukin-6, and interleukin-1β between the two groups ( t = 15.94, 14.29, 13.89, all P < 0.01). FAM224B had complementary binding sites with miR-34b-5p. The expression level of miR-34b-5p in lung tissue was significantly lower in the FAM224B group compared with the pneumonia group ( t = 15.55, P < 0.01). The protein expression levels of phosphorylated nuclear factor-κB subunit (p-p65) and phosphorylated inhibitor of kappa B alpha in lung tissue were significantly lower in the FAM224B group compared with the pneumonia group. Conclusion:FAM224B overexpression reduces the inflammatory reaction in lung tissue of rats with severe pneumonia through inhibiting miR-34b-5p expression.
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Objective:To explore the characteristics of local brain neural activity in post stroke aphasia (PSA) patients in different frequency bands and the relationship between Western Aphasia Battery (WAB) scores and specific frequency bands. Methods:From March, 2015 to May, 2018, 15 PSA patients, and 15 healthy adults as controls matched for age, gender and education were recruited. They were assessed with WAB and scaned with resting-state functional magnetic resonance imaging. The amplitude of low-frequency fluctuation (ALFF) and fractional amplitude of low-frequency fluctuation (fALFF) on the frequency bands of 0.01-0.08 Hz, 0.027-0.073 Hz, and 0.01-0.027 Hz were calculated. The ALFF and fALFF in different frequency bands were extracted and the correlation with the WAB scores in the patients were analyzed. Results:On 0.01-0.08 Hz, ALFF increased in the right precentral gyrus in the patients. On 0.027-0.073 Hz, ALFF increased values in the right precentral gyrus, and fALFF decreased in the right cerebellar Crus2 region; fALFF in the right cerebellar Crus2 region negatively correlated with the scores of information content (r = -0.576, P = 0.025), auditory comprehension (r = -0.658, P = 0.008), repetition (r = -0.616, P = 0.014) and aphasia quotient (r = -0.611, P = 0.016) of WAB. On 0.01-0.027 Hz, the fALFF decreased in the left inferior parietal limbic gyrus, and positively correlated with the scores of information content (r = 0.538, P = 0.039) and aphasia quotient (r = 0.526, P = 0.044). Conclusion:Resting-state fALFF abnormalities in PSA patients are frequency-dependent, which associate with some frequency-specific neurofunctional alterations.
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Brucea javanica oil emulsion (BJOE) has been used to treat tumor in China for more than 40 years. However, its components and effectiveness in the treatment of acute lymphocytic leukemia (ALL) and its mechanism of anti-cancer activity remain unknown. In the current study, high-performance liquid chromatography-evaporative light scattering detector (HPLC-ELSD) was used to analyze the components of BJOE. Then, the anti-leukemia effects of BJOE were examined both in vitro and in vivo using ALL Jurkat cells and the p388 mouse leukemia transplant model, respectively. The primary ALL leukemia cells were also used to confirm the anti-leukemia effects of BJOE. The apoptotic-related results indicated that BJOE induced apoptosis in Jurkat cells and were suggestive of intrinsic apoptotic induction. Moreover, BJOE inhibited Akt (protein kinase B) activation and upregulated its downstream targets p53 and FoxO1 (forkhead box gene, group O-1) to initiate apoptosis. The activation of GSK3β was also involved. Our findings demonstrate that BJOE has anti-leukemia effects on ALL cells and can induce apoptosis in Jurkat cells through the phosphoinositide3-kinase (PI3K) /Akt signaling pathway.
Subject(s)
Animals , Humans , Mice , Apoptosis , Brucea/chemistry , Glycogen Synthase Kinase 3 , Jurkat Cells , Phosphatidylinositol 3-Kinases/genetics , Plant Oils/pharmacology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Proto-Oncogene Proteins c-akt/genetics , Seeds/chemistry , Signal Transduction摘要
OBJECTIVES@#To study the effect of probiotics combined with applied behavior analysis (ABA) in the treatment of children with autism spectrum disorder (ASD).@*METHODS@#A total of 41 children with ASD who attended the Affiliated Hospital of Jiangsu University from May 2019 to December 2020 were enrolled and randomly divided into an observation group with 21 children and a control group with 20 children. The children in the observation group were given oral probiotics combined with ABA intervention, while those in the control group were given ABA intervention alone. The treatment outcomes were compared between the two groups. Autism Treatment Evaluation Checklist (ATEC) was used to evaluate the severity of behavioral symptoms in both groups before intervention and at 3 months after intervention. The fecal samples were collected to analyze the difference in intestinal flora between the two groups based on 16s rRNA high-throughput sequencing.@*RESULTS@#Before intervention, there was no significant difference in the ATEC score between the observation and control groups (@*CONCLUSIONS@#Probiotics may improve the effect of conventional ABA intervention in children with ASD by regulating intestinal flora.
Subject(s)
Child , Humans , Applied Behavior Analysis , Autism Spectrum Disorder/therapy , Probiotics , Prospective Studies , RNA, Ribosomal, 16S摘要
OBJECTIVE@#To explore the correlation between DSG2, TTN and GATA4 genes and Brugada syndrome in Henan Province of China.@*METHODS@#From February 2017 to February 2019, 100 patients with Brugada syndrome and 100 healthy individuals were selected as the study and the control groups, respectively. Electrocardiogram and echocardiography were carried out, and peripheral blood samples was collected. Coding regions of DSG2, TTN and GATA4 genes were amplified by PCR and sequenced. The results were compared with standard sequences from GenBank.@*RESULTS@#Electrocardiogram showed that all patients from the study group had ventricular arrhythmia, 87 cases (87%) presented ventricular tachycardia (VT), 84 cases (84%) presented T wave inversion, and 51 cases (51%) presented Epsilon wave. Echocardiography showed that the right ventricle in the study group was enlarged with the inner diameter of the right ventricle being (40.0±13.3) mm, and the right ventricle showed various degree of abnormal systolic function. The enlargement of right atrium accounted for 64%, and the involvement of the left ventricle accounted for 27%. The right ventricular diameter and left ventricular diastolic diameter of the study group were significantly greater than those of the control group (P< 0.05). DNA sequencing showed that 60 patients carried DSG2 gene variants, among which 18 had missense variant of exon 8. Fifty patients carried TTN gene variants, including 8 in the A-band domain and 3 in the I-band domain. Twenty patients carried 3 variants of the GATA4 gene.@*CONCLUSION@#Variants of the DSG2, TTN and GATA4 genes in Henan region are correlated with the onset of Brugada syndrome.
Subject(s)
Humans , Arrhythmogenic Right Ventricular Dysplasia , Brugada Syndrome/genetics , China , Connectin , Desmoglein 2/genetics , GATA4 Transcription Factor , Pedigree , Sequence Analysis, DNA摘要
Objective:To explore the lesion characteristics and predictors of invasive coronary angiography (ICA)-verified obstructive lesions with fractional flow reserve (FFR)>0.80, that is, anatomy-function mismatch.Methods:A total of 515 obstructive vessels in 419 coronary disease patients from 11 Chinese medical centers undergoing coronary CT angiography and ICA and FFR were retrospectively analyzed. All vessels had one target lesion with diameter stenosis ≥50 % by ICA. There were 229 vessels in the match group (FFR≤0.80) and 286 vessels in the mismatch group (FFR>0.80). The lesion characteristics including lesion territory, the distance of the coronary artery ostium to the proximal end of the lesion, minimum lumen area, reference lumen area, plaque length and burden, plaque volume and component volume, remodeling index and plaque morphological complexity were measured and compared between the two groups. Optimal thresholds of quantitative plaque characteristics were defined by Yoden index. Logistic regression analysis was used to analyze the predictors of anatomy-function mismatch. Area under receiver operating characteristic curve (AUC) was used to analyze the ability of different lesion features to predict mismatched lesions.Results:The coronary stenosis, plaque burden and length, plaque volume (including each component volume) in the mismatch group were smaller than those in the match group, and FFR, minimum lumen area were larger (all P<0.05). Left anterior descending artery (LAD) lesion and severe complex plaque were more common in the match group than the mismatch group with a statistically significant difference. Univariate logistic regression analysis showed that LAD lesion, minimum lumen area>4 mm 2, plaque burden and length, plaque calcification volume<27 mm 3, plaque lipid volume<30 mm 3, plaque fiber volume<150 mm 3 and plaque morphological complexity were predictiors of anatomic function mismatched lesions; Multivariate logistic regression showed that the minimum lumen area>4 mm 2 (OR=3.371, 95%CI 1.903-5.973, P<0.001), plaque lipid volume<30 mm 3 (OR=3.014, 95%CI 1.691-5.373, P<0.001), plaque morphological complexity (mild OR=17.772, 95%CI 8.072-39.128, P<0.001, moderate OR=6.383, 95%CI 3.739-10.896, P<0.001) were independent predictors of mismatched lesions. The AUC of the model based on the minimum lumen area, plaque lipid volume and morphological complexity was 0.824, which was superior to either of the plaque feature alone ( P<0.001). Conclusions:The minimum lumen area, lipid volume and plaque morphological complexity are independent predictors of the anatomical-functional mismatch lesions, and the combination can significantly improve the prediction value.
摘要
Objective@#To evaluate the effects of tube voltage on image quality in coronary CT angiography (CCTA), the estimated radiationdose, and DNA double-strand breaks (DSBs) in peripheral blood lymphocytes to optimize the use of CCTA in the era of lowradiation doses. @*Materials and Methods@#This study included 240 patients who were divided into 2 groups according to the DNA DSB analysismethods, i.e., immunofluorescence microscopy and flow cytometry. Each group was subdivided into 4 subgroups: thosereceiving CCTA only with different tube voltages of 120, 100, 80, or 70 kVp. Objective and subjective image quality wasevaluated by analysis of variance. Radiation dosages were also recorded and compared. @*Results@#There was no significant difference in demographic characteristics between the 2 groups and 4 subgroups in eachgroup (all p > 0.05). As tube voltage decreased, both image quality and radiation dose decreased gradually and significantly.After CCTA, γ-H2AX foci and mean fluorescence intensity in the 120-, 100-, 80-, and 70-kVp groups increased by 0.14, 0.09,0.07, and 0.06 foci per cell and 21.26, 9.13, 8.10, and 7.13 (all p 0.05). @*Conclusion@#The 100-kVp tube voltage may be optimal for CCTA when weighing DNA DSBs against the estimated radiationdose and image quality, with further reductions in tube voltage being unnecessary for CCTA.
摘要
Objective To evaluate the role of non?invasive fractional flow reserve (FFR) derived from coronary CT angiography (CCTA) in assessing the hemodynamic relevance of myocardial bridging (MB). Methods A total of 60 patients without obstructive coronary artery disease but with CCTA?confirmed MB of the left anterior descending coronary artery and 30 patients with negative CCTA findings as control group were retrospectively included in this study. The 60 patients with MB were divided into 2 groups (superficial and deep MB group) according to the depth of MB. Age and sex were matched among three groups. The location, length, depth, and degree of systolic compression of the MB were measured. The FFRCT values (including systolic and diastolic phases) were measured at three points (segments 1 to 2 cm proximal to a MB, mid?tunneled segment and segments 1 to 2 cm distal to the MB) by cFFR software. Patients with FFRCT<0.75 were deemed to have hemodynamic relevance (abnormal group). χ2 test, ANOVA test, Mann?Whitney U test, Kruskal?Wallis H test and logistic regression model were used for statistical analysis. Results The FFRCT values decreased from diastolic phase to systolic phase in deep MB group [0.90 (0.81-0.94) vs. 0.93 (0.91-0.97), Z=-2.172, P=0.03]. Compared to control group, the FFRCT values decreased in both diastolic phase and systolic phase in superficial MB group as well as deep MB group [systole 0.92 (0.90-0.94) control vs. 0.84 (0.77-0.88) superficial vs. 0.67 (0.50-0.88) deep, H=37.193, P<0.001; diastole 0.93 (0.89-0.94) control vs. 0.85 (0.73-0.92) superficial vs. 0.81 (0.65-0.87) deep, H=26.508, P<0.001]. Abnormal FFRCT values (<0.75) were found in 28 (47.7%) MB patients (9 superficial vs. 19 deep). The length (OR=1.067, 95% CI: 1.016-1.122, P=0.010) and depth (OR=2.028, 95%CI: 1.129-3.644, P=0.018) of MB were associated with the abnormal FFRCT values.Conclusions The FFRCT values of coronary artery distal to MB were lower than that without MB. Abnormal FFRCT values are more prevalent in deep MB. MB length and depth demonstrate moderate predictive value for an abnormal FFRCT value.