Clinical analysis of 10 cases of multi-center tumor necrosis factor receptor-associated periodic syndrome / 中华儿科杂志

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.

Recent advances in the study of a novel Omicron variant of SARS-CoV-2 / 中国热带医学

@#Abstract: Due to the continued emergence of multiple variants of SARS-CoV-2, the ongoing pandemic has resulted in severe mortality over the past two years. After the Alpha, Beta, Gamma and Delta variants, the most recent new variant of concern (VOC) strain to emerge is Omicron (B.1.1.529), which evolved as a result of the accumulation of a large number of mutations. The Omicron variant, which has a much higher transmission rate than the Delta variant, soon replaced the Delta variant and others, is now the dominant variant worldwide. The emergence of Omicron poses new challenges for the prevention and control of COVID-19 and has raised a number of concerns worldwide. Recently, cases of Omicron infection have been reported in several parts of China, and therefore this paper provides a comprehensive analysis and summary of the epidemiology and immune escape mechanisms of the Omicron variant. We also suggest some therapeutic strategies against the Omicron variant, including rapid diagnosis, genome analysis of emerging variants, ramping up of vaccination drives and receiving booster doses, updating the available vaccines, designing of multivalent vaccines able to generate hybrid immunity, up-gradation of medical facilities and strict implementation of adequate prevention and control measures need to be given high priority to handle the on-going COVID-19 pandemic successfully.

Study on liver diseases with zebrafish as an important tool / 中国中药杂志

With the increasing incidence of hepatobiliary diseases, it is particularly important to understand the role of molecular, cellular and physiological factors in the clinical diagnosis and treatment with traditional Chinese medicine(TCM) in the development of liver disease. Appropriate animal models can help us identify the possible mechanisms of relevant diseases. Danio rerio(zebrafish) model was traditionally used to study embryonic development, and has been gradually used in screening and evaluation of liver diseases and relevant drug in recent years. Zebrafish embryos develop rapidly and the digestive organs of 5-day-old juvenile fish are all mature. At this stage, they may develop hepatobiliary diseases induced by developmental defects or compounds. Zebrafish liver is similar to human liver in cell composition, function, signal transduction, response to injury and cell process mediating liver disease. Furthermore, due to the high conservation of genes and proteins between humans and zebrafish, zebrafish becomes an alternative system for studying basic mechanisms of liver disease. Therefore, genetic screening could be performed to identify new genes involving specific disease processes, and chemical screening could be made for drugs in specific processes. This paper briefly introduced the experimental properties of zebrafish as model system, emphasized the study progress of zebrafish models for pathological mechanism of liver diseases, especially fatty liver, and drug screening and evaluation, so as to provide ideas and techniques for the future liver toxicity assessment of TCM.

1α, 25-dihydroxyvitamin D3 inhibits transforming growth factor β1-induced epithelial-mesenchymal transition via β-catenin pathway / 中华医学杂志(英文版)

BACKGROUND@#The transforming growth factor β1 (TGF-β1)-induced epithelial-mesenchymal transition (EMT) has been proven associated with the pathogenesis of asthmatic airway remodeling, in which the Wnt/β-catenin pathway plays an important role, notably with regard to TGF-β1. Recent studies have shown that 1α, 25-dihydroxyvitamin D3(1α, 25(OH)2D3) inhibits TGF-β1-induced EMT, although the underlying mechanism have not yet been fully elucidated.@*METHODS@#Alveolar epithelial cells were exposed to 1α, 25(OH)2D3, ICG-001, or a combination of both, followed by stimulation with TGF-β1. The protein expression of E-cadherin, α-smooth muscle actin, fibronectin, and β-catenin was analyzed by western blotting and immunofluorescence analysis. The mRNA transcript of Snail was analyzed using RT-qPCR, and matrix metalloproteinase 9 (MMP-9) activity was analyzed by gelatin zymogram. The activity of the Wnt/β-catenin signaling pathway was analyzed using the Top/Fop flash reporters.@*RESULTS@#Both 1α, 25(OH)2D3 and ICG-001 blocked TGF-β1-induced EMT in alveolar epithelial cells. In addition, the Top/Fop Flash reporters showed that 1α, 25(OH)2D3 suppressed the activity of the Wnt/β-catenin pathway and reduced the expression of target genes, including MMP-9 and Snail, in synergy with ICG-001.@*CONCLUSION@#1α, 25(OH)2D3 synergizes with ICG-001 and inhibits TGF-β1-induced EMT in alveolar epithelial cells by negatively regulating the Wnt/β-catenin signaling pathway.

Two cases of adenosine deaminase 2 deficiency in children and literature review / 中华实用儿科临床杂志

Objective:To summarize the clinical phenotype and genotype features of 2 children with adenosine deaminase 2 (ADA2) deficiency, and to review the related literature so as to enhance the understanding of this disease.Methods:The phenotype and genotype of 2 cases with ADA2 deficiency who visited the Affiliated Hospital of Qingdao University from March to December 2019 were analyzed.Literature was searched from foreign and domestic databases and studied to summarize clinical and gene mutation characteristics of children with ADA2 deficiency.Results:(1) ADA2 gene mutation was found in both children.One case was characterized by recurrent fever, livedo reticularis, polyarteritis nodosa and immunodeficiency.The mutation site c. 571delC(p.Q191Sfs*5)of the ADA2 gene detected in this case was a homozygous mutation, which was a new mutation point and not reported in China or abroad previously.The other case was characterized by recurrent fever, panniculitis, vasculitis with legs, and immunodeficiency.The mutation site c. 1358A>G(p.Y453C)was a homozygous mutation that was not reported in China previously.(2)There were 171 cases of children diagnosed with ADA2 deficiency in foreign countries, but only 5 cases (3 previously reported cases and 2 cases in this study) were detected in China.The main clinical phenotypes were recurrent fever(5/5 cases), livedo reticularis(4/5 cases), panniculitis(1/5 cases), cutaneous gangrene(1/5 cases), growth retardation(1/5 cases), cerebral infarction(3/5 cases), humoral immunodeficiency(4/5 cases), blood system involvement(3/5 cases), and myalgia(2/5 cases), elevated inflammatory markers(C-reactive protein, erythrocyte sedimentation rate)(5/5 cases). Conclusions:Children with ADA2 deficiency have various clinical phenotypes, and a good understanding of phenotypes can improve the level of clinical diagnosis and treatment.The mutation point of c. 571delC is a novel ADA2 gene mutation type, which further enriches the ADA2 gene spectrum.

Advance in Repetitive Transcranial Magnetic Stimulation for Alzheimer's Disease (review) / 中国康复理论与实践

Repetitive transcranial magnetic stimulation (rTMS), a noninvasive and painless brain stimulation technique, can improve cognition and alleviate behavioral and psychological symptoms in patients with Alzheimer's disease through several mechanisms associated with neuronal plasticity, brain network, neurotransmitter, neurotrophic factors, and so on.

Overlap between Headache, Depression, and Anxiety in General Neurological Clinics: A Cross-sectional Study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Many studies have reported that depression and anxiety have bidirectional relationship with headache. However, few researches investigated the roles of depression or anxiety in patients with headache. We surveyed the prevalence of depression and anxiety as a complication or cause of headache among outpatients with a chief complaint of headache at neurology clinics in general hospitals. Additional risk factors for depression and anxiety were also analyzed.</p><p><b>METHODS</b>A cross-sectional study was conducted at 11 general neurological clinics. All consecutive patients with a chief complaint of headache were enrolled. Diagnoses of depression and anxiety were made using the Chinese version of the Mini International Neuropsychiatric Interview, and those for headache were made according to the International Classification of Headache Disorders, 2nd Edition. The headache impact test and an 11-point verbal rating scale were applied to assess headache severity and intensity. Logistic regression was used to analyze risk factors of patients with headache for depression or anxiety.</p><p><b>RESULTS</b>A total of 749 outpatients with headache were included. Among them, 148 (19.7%) were diagnosed with depression and 103 (13.7%) with anxiety. Further analysis showed that 114 (15.2%) patients complaining headache due to somatic symptoms of psychiatric disorders and 82 (10.9%) had a depression or anxiety comorbidity with headache. Most patients with depression or anxiety manifested mild to moderate headaches. Poor sleep and severe headache-related disabilities were predictors for either depression or anxiety.</p><p><b>CONCLUSION</b>Clinicians must identify the etiology of headache and recognize the effects of depression or anxiety on headache to develop specific treatments.</p>

Influence of different doses of vitamin A supplements on the function of T help 17 and regulatory T cells in peripheral blood of asthmatic children / 中华实用儿科临床杂志

Objective To observe the effect of vitamin A(VitA) on T help 17(Th17) and regulatory T cells (Treg) in the peripheral blood in children with asthma and their dose effect relationship,and to investigate the immunoregulation mechanism of VitA.Methods Twenty children with asthma (asthma group) and 16 healthy children (healthy control group) were selected.Peripheral blood mononuclear cells(PBMC) were isolated from venous blood by density gradient centrifugation in the aseptic condition.Different concentrations of VitA [0.0μmol/L (blank control),0.5μmol/L,1.0μmol/L,2.0μmol/L] were added into the cultures in the asthma group.The healthy control group were not interfered with VitA.The supernatant was collected after 72 h.The levels of interleukin 17 (IL-17),interleukin 10(IL-10) and transforming growth factor-β1 (TGF-β1) in the supernatant were determined by enzyme-linked immunosorbent assay.Results (1) IL-17 levels produced by PBMC in the asthma group were significantly higher than those in the healthy control group [(960.53±75.59) ng/L vs (425.07±70.71) ng/L,P＜0.01],and the levels of IL-10 and TGF-β1 were significantly lower than those in the healthy control group [(53.13±6.94)ng/L vs (84.41±6.02) ng/L,(304.51±51.52) ng/L vs (489.45±73.68) ng/L,all P＜0.01].(2) IL-17 levels produced by PBMC in the 0.5μmol/L,1.0μmol/L and 2.0μmol/L VitA concentration of the asthma group [(588.95±44.18)ng/L,(573.13±27.43) ng/L,(686.71±38.98) ng/L] were significantly lower than those in the blank control group[(960.53±75.59) ng/L,all P＜0.01],and IL-17 levels in the 2.0 μmol/L VitA concentration were significantly higher than those in 0.5μmol/L and 1.0μmol/L concentration groop (P＜0.01).(3) IL-10 levels produced by PBMC in the 0.5μmol/L,1.0μmol/L and 2.0μmol/L VitA concentration of the asthma group [(105.35±10.79) ng/L,(111.21±16.11) ng/L,(81.09±6.05) ng/L] were significantly higher than those in the blank control group[(53.13±6.94) ng/L,all P＜0.01],TGF-β1 levels produced by PBMC in the 0.5μmol/L,1.0μmol/L and 2.0μmol/L VitA concentration of the asthma group[(933.01±73.98) ng/L,(1223.31±105.99)ng/L,(776.98±145.44) ng/L] were significantly higher than that in blank control group[(304.51±51.52) ng/L,all P＜0.01],and the levels of IL-10 and TGF-β1 in the 0.5 μmol/L and 1.0μmol/L concentration group were significantly higher than those in the 2.0μmol/L concentration group(all P＜0.01).The level of TGF-β1 in the 1.0μmol/L concentration group were significantly higher than that in the 0.5μmol/L concentration group (P＜0.01).Conclusions The function of Th17 in children with asthma during asthma attack was enhanced,and the function of Treg cells was reduced.The balance disorder of the functions of Th17 and Treg cells occurred.VitA can reduce the function of Th17 in peripheral blood,and enhance the activity of Treg cells in the children with asthma.The physiological level of VitA has the best effect,if high VitA concentration is high its effect is significantly decreased.

Laboratory examination of autoimmune and autoinflammatory diseases / 中华实用儿科临床杂志

Autoimmune disease is an own organization inflammatory lesions,mainly caused by destroying the adaptive immune tolerance mechanism of differentiatingself andnon-self,whose character is appearing the autoantibodies and self-reactive T cells in the body.Autoinflammatory disease is a group of genetic,recurrent and noninvasive inflammatory disease,whose characteristics are fever,rash,joint pain,arthritis,ophthalmic pathological changes and increasing of acute phase proteins,and it can affect many organ systems.These diseases are different in the mode of onset and clinical manifestations,but also can have similar and overlapped symptoms and signs,and often confused with other systemic diseases.Therefore,clinical misdiagnoses or missed diagnoses easily occur.To understand correctly and master the laboratory examination characteristics and its clinical is essential,which has significant value in the clinical diagnosis,differential diagnosis,evaluation and treatment of these diseases.

Cause analysis and nursing of chemotherapeutic phlebitis in hematonosis children / 中国实用护理杂志

Objective To investigate the prevention and nursing measures of chemotherapeutic phlebitis in hematonosis children.Methods 233 children with first-attack of hematonosis were admitted to our department from January 2010 to January 2012,among whom 80 cases appeared different degrees of chemotherapeutic phlebitis.The related factors of chemotherapeutic phlebitis were explained and the nursing measures were established.Results After effective nursing measures,the chemotherapeutic phlebitis were properly handled.Conclusions Correct selection of vascular puncture site,strict aseptic operation and implementation of relevant nursing measures can prevent the incidence of chemotherapeutic phlebitis,and local closure,using of patches and external application of scald ointment can be adopted to treat chemotherapeutic phlebitis.