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Gaucher′s disease (GD) is a rare autosomal recessive metabolic disease caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GBA). Variants in the GBA1 result in the deficiency or reduction of GBA activity, leading to the accumulation of its substrate glucocerebroside (Gb1; also known as glucosylceramide, GlcC) in mononuclear phagocytes of organs, including the liver, spleen, kidney, bone, lung, and even brain.Glucosylsphingosine (lyso-Gb1), a deacylated derivative of Gb1, is highly sensitive and specific for GD.This study reviews the role of lyso-Gb1 in the diagnosis, curative effect, prognosis evaluation and follow-up monitoring of GD, aiming to improve the understanding of the diagnosis and treatment progress of GD.
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China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.
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Hemophagocytic lymphohistiocytosis (HLH) is a rare immune-mediated disorder characterized by hyperactivation of antigen-presenting cells and T cells, massive secretion of inflammatory cytokines, and impaired function of natural killer cells and CD8 + T cells.Ruxolitinib is a Januse kinase(JAK)inhibitor that reduces cytokine release and retards the inflammatory response by competitive binding to the JAK catalytic site, to achieve the goal of curing HLH.In recent years, ruxolitinib has been gradually applied in the treatment of HLH, and its effectiveness has also been verified.However, studies have also found that there are efficacy differences in the treatment of HLH caused by different etiologies.This article reviews the mechanism of ruxolitinib in the treatment of HLH and the differences in the efficacy of ruxolitinib in the treatment of HLH of different etiologies.
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Eosinophilic gastrointestinal diseases are a group of diseases with repeated or persistent gastrointestinal symptoms and the increase of eosinophils in gastrointestinal mucosa.Pathology shows an increase in the number of eosinophils in gastrointestinal mucosa.Fibrosis can be seen in the lamina propria of esophageal mucosa in patients with eosinophilic esophagitis.A variety of cytokines may be chemotactic to the aggregation of eosinophils, including Th2 cytokines, eotaxin, thymic stromal lymphopoietin, macrophage migration inhibitory factor, sialic acid-binding immunoglobulin-like lectin, integrin and extracellular matrix protein.The intestinal tissue injury of eosinophilic gastrointestinal diseases may be related to eosinophil degranulation and secretion of specific products, inflammatory response, oxidative damage, fibrosis, tissue remodeling and impaired barrier function.
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Hemophagocytic lymphohistiocytosis(HLH)is a systemic hyperinflammation syndrome.XIAP deficiency is an innate immunodeficiency disorder, often combined with HLH, with increased susceptibility to EB virus, mostly in childhood.XIAP deficiency leads to innate immune deficiency, increased apoptosis, and excessive activation of NLRP3 inflammasome, which together lead to impaired clearance of pathogens and excessive release of cytokines, resulting in HLH.The course of HLH in patients with XIAP deficiency is generally mild and the mortality rate is low, but it frequently relapses.In addition to HLH, XIAP deficiency can be combined with some auto-inflammatory disease.Hematopoietic stem cell transplantation is the only curable method and reduced-intensity conditioning is recommended.Some new targeted therapies, such as IFN-γ monoclonal antibodies, IL-18 and IL-6 antagonists may be effective, but the specific efficacy needs more study.
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Objective:To explore the effect and underlying mechanism of casein kinase 2 interacting protein-1 (CKIP-1) on hepatocyte apoptosis in nonalcoholic fatty liver disease (NAFLD).Methods:Experimental study. An NAFLD cell model was established by inducing human hepatoma cell line, HepG 2 cells, with oleic acid (OA). Flag-CKIP-1 expression vector and shRNA-CKIP-1 were transfected into HepG 2 cells. Flow cytometry was used to detect the effect of CKIP-1 on the activity and apoptosis of NAFLD hepatocytes. The levels of apoptosis-related proteins were detected by Western blot. CKIP-1 knockout mice in C57BL/6 back-ground were fed with either standard or high-fat diet for 8 weeks. Apoptosis-related signal proteins in NAFLD hepatocytes were detected by immunohistochemistry. Results:After CKIP-1 was transfected into HepG 2 cells, the degree of OA induced cell liposis was significantly reduced ( P<0.05). Annexin V-FITC/PI flow cytometry showed that CKIP-1 reduced the apoptosis of steatotic hepatocytes. Overexpression of CKIP-1 could significantly inhibit the expression of caspase-3 and caspase-9 and increase the expression of Bcl-2/Bax ( P<0.05). Knockdown of CKIP-1 could increase the expression of caspase-3 and caspase-9 ( P<0.05). CKIP-1 knockout could further increase the expression of caspase-3 and caspase-9 in NAFLD mice ( P<0.01, P<0.05), and further decrease the expression of Bcl-2/Bax ( P<0.05). Conclusion:CKIP-1 inhibited the apoptosis of steatotic hepatocytes by up-regulating the expression of apoptosis inhibitor gene, Bcl-2/Bax, and affecting the proteases, caspase-3 and caspase-9.
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Langerhans cell histiocytosis (LCH) is a rare myeloid tumor disease, which is characterized by CD1a + CD 207+ dendritic cell proliferation.The clinical manifestations of LCH vary greatly due to the different locations and different involved organs.Among them, neurodegenerative disease (ND) is one of the manifestations of central nervous system involvement in LCH.The pathogenesis of LCH-ND is unclear and it is mainly characterized by neurological disorders and progressive imaging changes.Due to its unclear etiologies and long progress of LCH-ND, the treatment of LCH-ND remains very challenging.Presently, the main modalities of treatment include intravenous immunoglobulin, chemotherapy and targeted therapy.Early treatment and timely intervention may be the key to halt the progression of LCH-ND, to stabilize the central nervous system function and to improve the quality of life.The pathogenesis, clinical manifestations, diagnosis, treatment and clinical evaluation of LCH-ND are briefly reviewed.
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Immune thrombocytopenia is a common bleeding disease characterized by isolated thrombocytopenia.Some patients last for more than 12 months and suffer from chronic immune thrombocytopenia(CITP). The pathogenesis of CITP is complex, and the traditional first-line has little improvement.In recent years, researches on second-line treatments(thrombopoietin and its receptor agonists, rituximab and splenectomy), immunosuppressive agents, all-trans retinoic acid, atorvastatin, and hematopoietic stem cell transplantation have provided new ideas for the treatment of CITP.This review summarizes the recent progress in the treatments of CITP and will be helpful for individualized treatment.
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@#Objective To evaluate the effect of perioperative nebulization of ipratropium bromide on preoperative pulmonary function and incidence of postoperative pulmonary complications as well as safety in chronic obstructive pulmonary disease (COPD) patients who underwent lung resection in thoracic surgery. Methods During November 18, 2013 to August 12, 2015, 192 COPD patients with a necessity of selective surgical procedures of lobectomy or right bilobectomy or segmentectomy under general anaesthesia in 10 centers were 1 : 1 randomized to an ipratropium bromide group (96 patients) and a placebo group (96 patients), to compare the effect on preoperative pulmonary function and incidence of postoperative pulmonary complications. The average age of treated patients was 62.90±6.50 years, with 168 male patients and 22 female patients. Results The demographic and baseline characteristics were well-balanced between the two groups. The adjusted mean increase of forced expiratory volume in one second (FEV1) in the ipratropium bromide group was significantly higher than that in the placebo group (169.90±29.07 mL vs. 15.00±29.35 mL, P<0.05). The perioperative use of ipratropium bromide significantly decreased incidence of postoperative pneumonia (2.6% vs. 14.1%, P<0.05). There was no ipratropium bromide related adverse event (AE) observed in this trial. Conclusion This trial indicates that perioperative nebulization of ipratropium bromide significantly improves preoperative lung function and reduces postoperative pneumonia in COPD patients undergoing lung resection in thoracic surgery, and has good safety profile.
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Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
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Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
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Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.
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Monkeypox is a zoonotic disease.Previous studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications.In order to improve pediatricians′ understanding of monkeypox and achieve early detection, early diagnosis, early treatment and early disposal, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health formulate this expert consensus, on the basis of the latest clinical management and infection prevention and control for monkeypox released by the World Health Organization (WHO), the guidelines for diagnosis and treatment of monkeypox (version 2022) issued by National Health Commission of the People′s Republic of China and other relevant documents.During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.
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Hereditary thrombocytopenia(HT)is a hemorrhagic disease characterized by thrombocytopenia caused by genetic variation.HT can be manifested as simple thrombocytopenia or combined syndrome, and its clinical manifestations are complex.It often occurs in children.The unique clinical characteristics of HT are platelet dysfunction, unstable course of the disease and susceptibility to other diseases.Due to different pathogenic genes, the treatment and prognosis of HT are diverse.The evaluation of hemorrhage in the clinical management of HT children is very important.In addition, platelet transfusion, thrombopoietin receptor agonists, hematopoietic stem cell transplantation and gene therapy also supply new ideas for HT treatment.This review summarized the current research progress on HT, in order to help clinicians comprehensively identify HT and take active and effective treatment programs.
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Hemophagocytic lymphohistiocytosis is a systemic inflammatory state caused by abnormal activation and infiltration of lymphocytes and histocytes.Characteristic features include unremitting fever, hepatosplenomegaly, cytopenia, organ damage, and even failure.Patients can develop central nervous system involvement.The most common neurological symptoms of CNS involvement are seizures and mental status changes, which need to be distinguished from various CNS diseases, such as multiple sclerosis, acute disseminated encephalomyelitis, and encephalitis.Early diagnosis and treatment are essential because of the poor prognosis and permanent sequelae of children with CNS involvement.This article aims to review the mechanism, clinical manifestations, accessory examinations, diagnosis, differential diagnosis, and treatment of CNS lesions in hemophagocytic lymphohistiocytosis and find clues for improving the outcome.
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Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans-type cells, which may occur concurrently or sequentially with T-cell acute lymphoblastic leukemia (T-ALL) and other Lymphoid neoplasms. A 15-year old female patient diagnosed with T-ALL developed LCH involving multiple systems during maintenance chemotherapy of T-AL. After treated with chemotherapy with improved result, the patient showed progression of the illness and refractory to the second-line treatment. We found c.G35A (p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment. The treatment proved effective, leading to partial remission within a week. Three months after Trametinib treatment, the patient developed new lymphadenopathy. Biopsy revealed the existence of LCS. The disease progressed quickly, and the patient died 7 days after diagnosis of LCS. The case of patients with T-ALL then developing LCH and LCS sequentially is extraordinarily rare. The causes of the case is unclear and may be related to cell transdifferentiation, clonal evolution, and chemotherapy. Targeted drugs can contain this disease for a short time.
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Disseminated intravascular coagulation (DIC) is a common and critical complication in children with acute leukemia.Acute promyelocytic leukemia (APL) is the most-common subtype of acute leukemia complica-ted with DIC.Although all-trans retinoic acid plus chemotherapy has significantly improved the overall survival of children with APL, the incidence of DIC-induced early mortality has not been improved.This review summarizes the advances on the pathogenesis and treatment of DIC in children with acute leukemia, aiming to provide evidences for clinical management.
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Severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still worldwide.As a vulnerable group, severe and dead pediatric cases are also reported.Under this severe epidemic situation, children should be well protected.With the widespread vaccination of SARS-CoV-2 vaccine in adults, the infection rate have decreased.Therefore, SARS-CoV-2 vaccine inoculation for children groups step by step is of great significance to the protection of children and the prevention and control of corona virus disease 2019(COVID-19) as a whole.But the safety of children vaccinated with SARS-CoV-2 vaccine is a main concern of parents.Therefore, in order to ensure the safety of vaccination and the implementation of vaccination work, National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health and the Society of Pediatrics, Chinese Medical Association organized experts to interpret the main issue of parents about SARS-CoV-2 vaccine for children, in order to answer the doubts of parents.
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At present, severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still rampant worldwide.As of September 10, 2021, there were about 222 million confirmed cases of corona virus disease 2019(COVID-19)and more than 4.6 million deaths worldwide.With the development of COVID-19 vaccines and the gradual vaccination worldwide, the increasing number of cases in children and unvaccinated young people has drawn attention.According to World Health Organization surveillance data, the proportion of COVID-19 infection cases in children gradually increased, and the proportion of cases in the age groups of under 5 years and 5-14 years increased from 1.0% and 2.5% in January 2020 to 2.0% and 8.7% in July 2021, respectively.At present, billions of adults have been vaccinated with various COVID-19 vaccines worldwide, and their protective effects including reducing infection and transmission, reducing severe disease and hospitalization, and reducing death, as well as high safety have been confirmed.Canada, the United States, Europe and other countries have approved the emergency COVID-19 vaccination in children and adolescents aged 12 to 17 years, and China has also approved the phased vaccination of COVID-19 vaccination in children and adolescents aged 3 to 17 years. For smooth advancement and implementation of COVID-19 vaccination in children, academic institutions, including National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health, and The Society of Pediatrics, Chinese Medical Association organized relevant experts to reach this consensus on COVID-19 vaccination in children.
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Natural killer group 2 member D(NKG2D) is an immune receptor expressed by NK cells that recognizes the human major histocompatibility complex class I polypetide-related chain(MIC) A/B on the cell surface.The interaction between NKG2D and MICA/B plays an important role in the immunosurveillance of viruses infection and cancers.In this article, we review the research progress of the MICB/NKG2D signaling pathway in immune escape including three parts: down-regulation of membrane-bound MICB, increase of secretory MICB, and polymorphism of MICB genes.