ABSTRACT
Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.
Subject(s)
Familial Mediterranean Fever , Hereditary Autoinflammatory Diseases , Male , Child , Female , Humans , Child, Preschool , Receptors, Tumor Necrosis Factor, Type I/genetics , Retrospective Studies , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , Hereditary Autoinflammatory Diseases/drug therapy , Glucocorticoids/therapeutic use , Biological Factors/therapeutic use , Immunosuppressive Agents/therapeutic use , Autoantibodies , Familial Mediterranean Fever/diagnosis , MutationABSTRACT
This study reviewed the clinical data of patients who were hospitalized in the Department of Neurology of Henan Provincial People's Hospital from January 2017 to October 2020. A total of 46 patients with positive serum anti-CV2 antibody were included. The average age of the patients was (54±15) years old, with a male to female ratio of 1.88â¶1. Twenty-six patients were diagnosed with paraneoplastic neurological syndrome (PNS). The most malignant tumors were thymoma, small cell lung cancer, and prostate cancer. The most common PNS included myasthenia gravis, subacute cerebellar degeneration, and subacute/chronic sensorimotor neuropathies. Twenty non-PNS patients exhibited subacute/old cerebral infarction, Parkinson's disease, Alzheimer's disease, and so on. Among them, brain magnetic resonance imaging (MRI) of 10 cases showed different degrees of white matter demyelination, some of which were accompanied by brain atrophy. The current study found that the positive predictive value of anti-CV2 antibody for the diagnosis of PNS was 56.5%, which was relatively weak. As an accompanying antibody, it may be a coincidence, and it may also be related to the involvement of family members in the pathological process of the diseases.
Subject(s)
Lung Neoplasms , Nervous System Diseases , Paraneoplastic Syndromes , Thymoma , Thymus Neoplasms , Adult , Aged , Autoantibodies , Female , Humans , Male , Middle AgedABSTRACT
OBJECTIVE: To explore the associations of interleukin-18 (IL-18) and IL-9 gene polymorphisms with susceptibility to asthma, and to study the associations between IL-18 and IL-9 expression levels and polymorphisms. PATIENTS AND METHODS: A total of 200 asthma patients in our hospital were collected as disease group, while 200 healthy people were taken as control group. The deoxyribonucleic acid (DNA) was extracted from peripheral blood and sent to the company for the detection of IL-18 and IL-9 gene polymorphisms via sequencing. The levels of serum IL-18 and IL-9 were determined using enzyme-linked immunosorbent assay (ELISA), and arterial blood gas analysis was performed for patients. RESULTS: The allele distributions at IL-18 gene loci rs189667 and rs360715 had no differences between control group and disease group. The allele distributions at IL-9 gene loci rs1859430 and rs2066758 were different between the two groups (p=0.001, p=0.022), among which the G allele frequency was the highest in disease group [245 (0.613)], and the T allele frequency was also the highest in disease group [240 (0.600)]. There was a difference in the genotype distribution at IL-9 gene locus rs1859430 between the two groups, and the GG genotype frequency in disease group [82 (0.410)] was significantly higher than that in control group (p=0.005). The CC genotype frequency at rs2066758 was significantly lower in disease group [27 (0.135), p=0.044]. In disease group, the frequency of heterozygous model CT (p=0.047) at IL-18 gene locus rs360715, and recessive model GA+AA (p=0.021) and heterozygous model GA (p=0.031) at IL-19 gene locus rs1859430 was significantly lower than that in control group. In disease group, the AC haplotype frequency at IL-18 gene loci rs189667 and rs360715 was evidently lower than that in control group (p=0.048). Disease group had evidently lower AT haplotype frequency (p=0.006) and evidently higher GT haplotype frequency (p=0.000) at IL-9 gene loci rs1859430 and rs2066758. Moreover, the level of serum IL-18 in patients with TT genotype at IL-18 gene locus rs360715 was higher than that in those with other genotypes in disease group (p<0.05), and the level of serum IL-9 in patients with AG genotype at IL-9 gene locus rs1859430 was also higher than that in those with other genotypes in disease group (p<0.05). There was a remarkable association between CT genotype at IL-18 gene locus rs360715 and partial pressure of oxygen (PaO2) (p=0.035), and between CC genotype at IL-9 gene locus rs2066758 and partial pressure of carbon dioxide (PaCO2) (p=0.041). CONCLUSIONS: The expression levels of serum IL-18 and IL-9 and their gene polymorphisms are significantly associated with asthma.
Subject(s)
Asthma/genetics , Interleukin-18/genetics , Interleukin-9/genetics , Polymorphism, Genetic/genetics , Adult , Asthma/diagnosis , HumansABSTRACT
OBJECTIVE: We aimed to detect the role and function of microRNA-431 (miR-431) in lung cancer, and to investigate the underlying mechanism in regulating the development of lung cancer. PATIENTS AND METHODS: Quantitative Real-time polymerase chain reaction (qRT-PCR) was utilized to measure the relative expression level of miR-431 in lung cancer tissues and cell lines. Cell counting kit-8 (CCK-8) and colony formation assays were employed to measure the proliferative ability of lung cancer cells. Meanwhile, transwell assay was recruited to detect the invasive and migratory abilities of lung cancer cells. Furthermore, dual-luciferase reporter gene assay was designed to verify the target gene of miR-431. Western blot assay was used to gauge the protein level of DDX5 (DEAD box polypeptide 5). RESULTS: MiR-431 expression was significantly lower in 122 lung cancer tissue samples or cell lines compared to the adjacent normal tissues or lung bronchial epithelial cell line, respectively. Over-expression of miR-431 significantly inhibited proliferation, invasion and migration of A549 cells. Down-regulation of miR-431 accelerated cell growth and metastasis of H1650 cells. DDX5 was proved to be a direct target for miR-431 in lung cancer. CONCLUSIONS: MiR-431 expression decreased in lung cancer tissues and cells. MiR-431 suppressed proliferation, invasion and migration of lung cancer cells via inhibiting the expression of DDX5. Our study might provide a novel target for the biological therapy of lung cancer.
Subject(s)
DEAD-box RNA Helicases/genetics , Gene Expression Regulation, Neoplastic , Lung Neoplasms/genetics , MicroRNAs/metabolism , A549 Cells , Cell Movement/genetics , Cell Proliferation/genetics , Down-Regulation , Gene Knockdown Techniques , Humans , Lung/pathology , Lung/surgery , Lung Neoplasms/pathology , Lung Neoplasms/surgery , MicroRNAs/genetics , Neoplasm Invasiveness/genetics , PneumonectomyABSTRACT
Although sphingomyelins known to be are lipid constituents of the plasma membrane in vertebrates, much remains obscure about the metabolism of sphingomyelins in insects. With ultra performance liquid chromatography-time-of-flight-tandem mass spectrometry analysis, we revealed for the first time that sphingomyelins are abundant in Nilaparvata lugens (Stål), the brown planthopper (BPH), and their biosynthesis is carried out by sphingomyelin synthase-like protein 2 (SMSL2), which is homologous to sphingomyelin synthase-related protein (SMSr). Unlike other insect species, high concentrations of sphingomyelins rather than ceramide phosphoethanolamines exist in the BPH. Two putative genes, which are homologous to SMSr, are named Nilaparvata lugens SMS-like 1 (NlSMSL1) and 2 (NlSMSL2). Knockdowns of both NlSMSL2 and NlSMSL1 were conducted but only the first decreased concentrations of sphingomyelins in the BPH, indicating that NlSMSL2 plays a role in the biosynthesis of sphingomyelins. Real-time quantitative PCR analysis revealed both NlSMSL1 and NlSMSL2 are highly expressed in BPH adults, with NlSMSL1 specifically highly expressed in reproductive organs (ovaries and testes) whereas NlSMSL2 was highly expressed in the malpighian tubules. The knockdown of NlSMSL1 or NlSMSL2 increased BPH female body weight but not that of males, suggesting sex-specific roles for SMSLs in influencing BPH body weight. The results suggest that NlSMSL2 catalyses the synthesis of sphingomyelins and maintains female BPH body weight through alteration of sphingolipid content.
Subject(s)
Hemiptera/enzymology , Sphingomyelins/biosynthesis , Transferases (Other Substituted Phosphate Groups)/metabolism , Animals , Body Weight , Female , Hemiptera/genetics , Hemiptera/growth & development , Sequence Homology, Nucleic Acid , Transferases (Other Substituted Phosphate Groups)/geneticsABSTRACT
Raman spectroscopy has been shown to have the potential for revealing oxygenated and spin ability of hemoglobin. In this study, confocal micro-Raman spectroscopy is developed to monitor the effect of sodium nitrite on oxyhemoglobin (HbO2 ) in whole blood. We observe that the band at 1,638 cm(-1) which is sensitive to the oxidation state decreases dramatically, while the 1,586 cm(-1) (low-spin state band) reduces both in methemoglobin (MetHb) and poisoning blood. Our results show that adding in sodium nitrite lead to the transition from HbO2 (Fe(2+) ) to MetHb (Fe(3+) ) in whole blood, and the iron atom converts from the low spin state to the high spin state with a delocalization from porphyrin plane. Moreover, multivariate statistical techniques, including principal components analysis (PCA) and linear discriminant analysis (LDA) are employed to develop effective diagnostic algorithms for classification of spectra between pure blood and poisoning blood. The diagnostic algorithms based on PCA-LDA yield a diagnostic sensitivity of 100% and specificity of 100% for separating poisoning blood from normal blood. Receiver operating characteristic (ROC) curve further confirms the effectiveness of the diagnostic algorithm based on PCA-LDA technique. The results from this study demonstrate that Raman spectroscopy combined with PCA-LDA algorithms has tremendous potential for the non-invasive detection of nitrite poisoning blood.
Subject(s)
Blood Chemical Analysis/methods , Methemoglobin/analysis , Spectrum Analysis, Raman/methods , Biostatistics/methods , Methemoglobinemia/diagnosis , Oxyhemoglobins/metabolism , ROC Curve , Sensitivity and Specificity , Sodium Nitrite/metabolism , Sodium Nitrite/toxicityABSTRACT
Second harmonic microscopic imaging and spectroscopy technology has become a powerful tool for biomedical studies, especially in fibrosis-related diseases research. And type I collagen is the major risk factors for fibrotic diseases. In this study, model for three-dimensional (3-D) uniform arrangement type I collagen is set up for researching the second harmonic generation (SHG) on nonlinear optics microscopy. Based on this model, we discuss the influence of different length and size collagen in 3-D arrangement type I collagen. Results can guide us to neatly judge the size, length, and molecules density effect on SHG. For practical application, this theoretical approach can lead us to analyze different severity of collagen diseases.
Subject(s)
Collagen Type I/chemistry , Microscopy/methods , Spectrum Analysis/methods , Collagen Diseases/diagnosis , Collagen Diseases/pathology , Models, Biological , Multiprotein Complexes/chemistry , Protein ConformationABSTRACT
A simple method for preparing solvent-resistant nanofibers with a thermal-sensitive surface has been developed by the combined technology of reversible addition-fragmentation chain-transfer (RAFT) polymerization, atom transfer radical polymerization (ATRP), electrospinning, and "click chemistry". Initially, well-defined block copolymers of 4-vinylbenzyl chloride (VBC) and glycidyl methacrylate (GMA) (PVBC-b-PGMA) were prepared via RAFT polymerization. Electrospinning of PVBC-b-PGMA from a solution in tetrahydrofuran gave rise to fibers with diameters in the range of 0.4-1.5 microm. Exposure to a solution of sodium azide (NaN(3)) not only affords nanofibers with azido groups on the surface but also leads to a cross-linking structure in the nanofibers. One more step of "click chemistry" between the PVBC-b-PGMA nanofibers with azido groups on the surface (PVBC-b-PGMA(-N3)) and alkyne-terminated polymers of N-isopropylacrylamide (NIPAM) (PNIPAM(AT)), which were prepared by ATRP, allows the preparation of a PVBC-b-PGMA nanofiber with thermal-sensitive PNIPAM brushes on the surface (PVBC-b-PGMA-g-PNIPAM). PVBC-b-PGMA-g-PNIPAM nanofibers exhibit a good resistance to solvents and thermal-responsive character to the environment, having a hydrophobic surface at 45 degrees C (water contact angle approximately 140 degrees) and having a hydrophilic surface at 20 degrees C (water contact angle approximately 30 degrees).
ABSTRACT
A modified cellular automaton (MCA) coupled with a momentum and species transport model has been developed in order to predict the evolution of dendritic morphology during solidification of alloys in the presence of melt convection. In the present model, the cellular automaton algorithm for dendritic growth is incorporated with the transport model, for calculating fluid flow and mass transfer by both convention and diffusion. The MCA model takes into account the effects of the constitutional undercooling and the curvature undercooling on the equilibrium interface temperature. It also considers the preferred growth orientation of crystals and solute redistribution during solidification. In the transport model, which is coupled with cellular automaton approach, the SIMPLE scheme is employed to solve the governing equations of momentum and species transfers. The present model was applied to model solutal dendritic growth of an Al-3mass%Cu alloy in a forced flow. The simulations reproduced the typical asymmetric growth features of convective dendrites with various preferred orientations. The effects of inlet flow velocity on the solute redistribution and the growth velocity of a dendritic tip were quantitatively investigated.
ABSTRACT
The function of ANP in the cardiovascular regulation is very similar with the TCM theory of "the Heart governs blood circulation". Using the method of cardiac impedance to check cardiac output and the method of radioimmunoassay (RIA) to check plasma ANP, the result showed that in the status of Blood Deficiency Syndrome, cardiac function was impaired, there were reduced kinemia and stroke volume, as well as markedly raised plasma ANP and peripheral resistance. The above-mentioned indexes were significantly different from those of normal group (P < 0.01). Using multivariate regression analysis, cardiac output was negatively correlated with the plasma ANP (P < 0.05). 23 cases with Blood Deficiency Syndrome showed normal hemoglobin, but an evidently changed cardiac output and plasma ANP were closely related with the level of the Blood Deficiency. Both parameters might serve as the objective basis to reflect the level of Blood Deficiency to facilitate the clinical diagnosis of the patient.