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1.
Article in Chinese | WPRIM | ID: wpr-989117

ABSTRACT

The hyper immunoglobulin M syndrome(hyper-IgM syndrome, HIGM)is a rare X-linked inherited primary immunodeficiency disease(PID)characterized by defective class switch recombination(CSR)with or without somatic hyper mutation(SHM), resulting in normal or increased levels of serum IgM associated with deficiency of immunoglobulin G(IgG), immunoglobulin A(IgA), and immunoglobulin E(IgE)and antibody dysfunction.Most cases have X-linked recessive inheritance, and a few are autosomal-recessive forms.The clinical manifestations include recurrent infections in early age, tumors and autoimmune diseases.The prognosis is poor, especially for HIGM with X-linked recessive inheritance.And if these patients do not be treated timely after birth, most of them will die early.In order to improve pediatricians′ understanding of the disease, and to timely identify and treat HIGM for an improved prognosis, this paper reviews the pathogenesis, clinical manifestations, diagnosis and treatment of HIGM.

2.
Article in Chinese | WPRIM | ID: wpr-989986

ABSTRACT

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.

3.
Article in Chinese | WPRIM | ID: wpr-1020003

ABSTRACT

Objective:To analyze the clinical characteristics, treatment course and prognosis of children with intermediate-high risk pulmonary embolism.Methods:The clinical data of 48 children with pulmonary embolism treated in Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2021 were analyzed retrospectively.Including 12 intermediate-high risk cases and 36 low-risk cases.The clinical manifestations, laboratory results, treatment and prognosis were compared between groups by the t-test, rank sum test and Chi- square test with the yates continuity correlation or Fisher′ s exact test. Results:There were no significant differences in the sex and age between the intermediate-high risk group and the low-risk group.The proportions of patients with shortness of breath, dyspnea, cyanosis or hypoxemia were higher in the intermediate-high risk group than those of in low-risk group.Twelve children in the low-risk group did not have specific symptoms of pulmonary embolism.There were no significant differences in the D-dimer level, and the distribution of pulmonary embolism between the two groups (all P>0.05). However, the proportion of children with other thromboembolism in the intermediate-high risk group was significantly higher than that of the low-risk group, among which heart thrombosis was the most common (7 cases). There were no significant differences in the underlying diseases and thrombophilia between the two groups (all P>0.05). The treatment of the intermediate-high risk group was more active: 6/12(50.00%) patients in the intermediate-high risk group received reperfusion treatment, including 3 cases of systemic thrombolysis, 1 case of catheter thrombolysis, and 2 cases of thrombectomy.In the low-risk group, only 1 case was treated with systematic thrombolysis.Unfavorable outcomes were reported in 3/48 (6.25%) patients, including 1 death of massive bleeding after catheter-directed thrombolysis in the acute phase, 1 case of recurrent pulmonary embolism after self-decided withdrawal and 1 case of progression of pulmonary embolism that was managed by surgical thrombectomy, all of whom were in the intermediate-high risk group. Conclusions:Shortness of breath, dyspnea, cyanosis or hypoxemia and co-existed venous thromboembolism were more common in intermediate-high risk cases.The treatment regimen of was more aggressive, but the incidence of unfavorable outcomes was higher in intermediate-high risk group; further research is needed to determine the risk factors for intermediate-high risk pulmonary embolism in children.

4.
Chinese Journal of Lung Cancer ; (12): 449-460, 2023.
Article in English | WPRIM | ID: wpr-982177

ABSTRACT

BACKGROUND@#Low-density computed tomography (LDCT) improved early lung cancer diagnosis but introduces an excess of false-positive pulmonary nodules data. Hence, accurate diagnosis of early-stage lung cancer remains challenging. The purpose of the study was to assess the feasibility of using circulating tumour cells (CTCs) to differentiate malignant from benign pulmonary nodules.@*METHODS@#122 patients with suspected malignant pulmonary nodules detected on chest CT in preparation for surgery were prospectively recruited. Peripheral blood samples were collected before surgery, and CTCs were identified upon isolation by size of epithelial tumour cells and morphological analysis. Laser capture microdissection, MALBAC amplification, and whole-exome sequencing were performed on 8 samples. The diagnostic efficacy of CTCs counting, and the genomic variation profile of benign and malignant CTCs samples were analysed.@*RESULTS@#Using 2.5 cells/5 mL as the cut-off value, the area under the receiver operating characteristic curve was of 0.651 (95% confidence interval: 0.538-0.764), with a sensitivity and specificity of 0.526 and 0.800, respectively, and positive and negative predictive values of 91.1% and 30.3%, respectively. Distinct sequence variations differences in DNA damage repair-related and driver genes were observed in benign and malignant samples. TP53 mutations were identified in CTCs of four malignant cases; in particular, g.7578115T>C, g.7578645C>T, and g.7579472G>C were exclusively detected in all four malignant samples.@*CONCLUSIONS@#CTCs play an ancillary role in the diagnosis of pulmonary nodules. TP53 mutations in CTCs might be used to identify benign and malignant pulmonary nodules.


Subject(s)
Humans , Lung Neoplasms , Exome Sequencing , Multiple Pulmonary Nodules , Carcinoma , DNA Repair
5.
Article in Chinese | WPRIM | ID: wpr-954673

ABSTRACT

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.

6.
Article in Chinese | WPRIM | ID: wpr-954690

ABSTRACT

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.

7.
Article in Chinese | WPRIM | ID: wpr-954799

ABSTRACT

Group A Streptococcus (GAS) is a very important pathogen, especially for children.On a global scale, GAS is an important cause of morbidity and mortality.But the burden of disease caused by GAS is still unknown in China and also has not obtained enough attention.For this purpose, the expert consensus is comprehensively described in diagnosis, treatment and prevention of GAS diseases in children, covering related aspects of pneumology, infectiology, immunology, microbiology, cardiology, nephrology, critical care medicine and preventive medicine.Accordingly, the consensus document was intended to improve management strategies of GAS disease in Chinese children.

8.
Article in Chinese | WPRIM | ID: wpr-954815

ABSTRACT

Cystic fibrosis (CF) is a monogenetic disease involving multiple organs.Malnutrition is common in children with CF, and it is closely related to the prognosis and survival of children.Malnutrition is caused by various factors and individualized plans should be made for children with CF at different stages.Besides, it is essentially important to monitor and assess the nutritional status of CF patients in a long term.In 2020, the 8 th edition of the clinical guidelines for the care of children with CF in Royal Brompton Hospital was updated, in which the nutritional management of children with CF was recommended and guided.This part of the guidelines was interpreted in the present paper, including nutritional management and evaluation, tips for pancreatic enzyme replacement therapy, types of nutrition supplement and how to solve the feeding difficulties of children with CF.The aim of this paper is to guide early clinical nutritional management of CF patients and improve their prognosis.

9.
Article in Chinese | WPRIM | ID: wpr-954817

ABSTRACT

Cystic fibrosis (CF) is a life-threatening autosomal recessive hereditary disease, involving multiple organs and systems such as respiratory and digestive systems.Malnutrition caused by various factors is common in CF children.CF children with pancreatic dysfunction suffer from malabsorption and/or growth disorder at birth or 1 year old.Nutritional status is associated with lung function and prognosis of CF patients, so nutritional management is extremely important to CF children.However, there is inadequate nutritional management for CF children in clinical practice in China, and Chinese CF children has shorter survival time than CF children in European and American countries.Thus, in this study, the importance of nutritional management, nutritional management methods, nutritional assessment and monitoring of CF patients were introduced.The aim is to enhance clinical attention to the nutritional status of CF children and clinical understanding of nutritional management.Early identification and intervention can improve prognosis and prolong the life of pediatric CF patients.

10.
Article in Chinese | WPRIM | ID: wpr-954819

ABSTRACT

The clinical data of a cystic fibrosis (CF) child with allergic bronchopulmonary aspergillosis (ABPA) and hemoptysis in the Department of Respiratory Disease Ⅰ, Beijing Children′s Hospital, Capital Medical University in May 2021 were retrospectively analyzed.Meanwhile, relevant literature was reviewed to analyze the clinical characteristics, diagnosis and treatment of CF patients with ABPA.This patient was a 15 years and 4 months old boy and complained of recurrent cough with sputum.The test showed increased blood eosinophils, total serum IgE higher than 500 IU/mL, positive aspergillus fumigatus specific IgE and IgG antibodies.Chest CT revealed central bronchiectasis and high-density mucus thrombus, and the patient was initially diagnosed with ABPA.Further examinations suggested the sweat chloride concentration was 89 mmol/L, and the genetic results showed a compound heterozygous mutation of CFTR (c.2909G>A from his father, c.3310G>T from his mother). Then, he was diagnosed with CF complicated with ABPA and treated with glucocorticoid and antifungal therapy.The disease was repeated after drug withdrawal.Due to hemoptysis, the right upper lobe lobectomy was performed.Unfortunately, ABPA occurred again 2 years later.The child is being followed up at present.CF is a rare monogenetic disease with poor prognosis.It is difficult to treat CF patients with ABPA and the disease repeats easily.Early identification and treatment will improve the prognosis.

11.
Article in Chinese | WPRIM | ID: wpr-928436

ABSTRACT

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than 40 genes have been associated with PCD, but most research have focused on common genes, which hinders our understanding of other rare PCD-genes. This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia, with an aim to provide a basis for early identification of such diseases.


Subject(s)
Humans , Cilia/genetics , Genetic Testing , Kartagener Syndrome/genetics , Sensitivity and Specificity
12.
Article in Chinese | WPRIM | ID: wpr-930343

ABSTRACT

Respiratory virus is a common cause of acute respiratory tract infection, especially in infant that accounts for 80%.However, reinfections usually occur after primary infection, which is not only infected by the different virus strains, but also the identical virus strains.Reinfections are common in children.As the pandemic of the 2019 novel coronavirus (2019-nCoV), its reinfections are similar to other respiratory viruses.Repeated respiratory viral infections in infants may lead to recurrent wheezing and asthma, which are also responsible for declined lung function and chronic obstructive pulmonary disease in adults.This study aims to review the epidemiology, pathogenesis and long-term effects of repeated respiratory viral infections in children, thus improving the ability to identify and support further research and vaccine strategy.

13.
Article in Chinese | WPRIM | ID: wpr-907970

ABSTRACT

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.

14.
Article in Chinese | WPRIM | ID: wpr-907971

ABSTRACT

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.

15.
Article in Chinese | WPRIM | ID: wpr-882907

ABSTRACT

2019 novel coronavirus(2019-nCoV) outbreak is one of the public health emergency of international concern.Since the 2019-nCoV outbreak, China has been adopting strict prevention and control measures, and has achieved remarkable results in the initial stage of prevention and control.However, some imported cases and sporadic regional cases have been found, and even short-term regional epidemics have occurred, indicating that the preventing and control against the epidemic remains grim.With the change of the incidence proportion and the number of cases in children under 18 years old, some new special symptoms and complications have appeared in children patients.In addition, with the occurrence of virus mutation, it has not only attracted attention from all parties, but also proposed a new topic for the prevention and treatment of 2019-nCoV infection in children of China.Based on the second edition, the present consensus further summarizes 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 treatment of 2019-nCoV infection in children.

16.
Chinese Journal of Biotechnology ; (12): 1058-1069, 2021.
Article in Chinese | WPRIM | ID: wpr-878614

ABSTRACT

The efficient production of lignocellulolytic enzyme systems is an important support for large-scale biorefinery of plant biomass. On-site production of lignocellulolytic enzymes could increase the economic benefits of the process by lowering the cost of enzyme usage. Penicillium species are commonly found lignocellulose-degrading fungi in nature, and have been used for industrial production of cellulase preparations due to their abilities to secrete complete and well-balanced lignocellulolytic enzyme systems. Here, we introduce the reported Penicillium species for cellulase production, summarize the characteristics of their enzymes, and describe the strategies of strain engineering for improving the production and performance of lignocellulolytic enzymes. We also review the progress in fermentation process optimization regarding the on-site production of lignocellulolytic enzymes using Penicillium species, and suggest prospect of future work from the perspective of building a "sugar platform" for the biorefinery of lignocellulosic biomass.


Subject(s)
Biomass , Cellulase/metabolism , Fermentation , Fungi/metabolism , Lignin/metabolism , Penicillium
17.
Article in Chinese | WPRIM | ID: wpr-867056

ABSTRACT

Objective:To investigate the effects of butylphthalide(NBP) on cognitive function and Nrf2 / SIRT3 signal pathway in vascular dementia (VD) mice.Methods:Wild-type mice (Nrf2 + /+ ) were divided into sham group, model group (VD group), butylphthalide treatment group (Nrf2 + /+ NBP group), and Nrf2 gene knockout mice (Nrf2 -/-) were divided into Nrf2 -/-model group (Nrf2 -/-VD group) and Nrf2 -/-treatment group (Nrf2 -/-NBP group). Both the model group and the treatment group were repeated.The bilateral common carotid arteries were ligated three times to establish a mouse model of cognitive dysfunction caused by cerebral ischemia-reperfusion.The sham group only isolated the bilateral common carotid arteries and threaded the wires, but did not block blood flow.Morris water maze experiment was used to analyze the cognitive function of mice.HE staining was used to observe the changes of neuron morphology and structure in CA1 region of hippocampus, and immunohistochemical analysis was used to analyze the positive expression of caspase 3 and caspase 9 in mouse CA1 region of hippocampus.Western blot was used to detect mouse hippocampus Nrf2, p62, LC3, SIRT3 protein expression. Results:(1) In Morris water maze experiment: compared with VD group, the escape latency of Sham group and Nrf2 + /+ NBP group was significantly shorter on the 5th day ((20.69±8.91) s, (7.58±9.47)s, (8.41±12.20)s; q=3.58, 5.07, both P<0.05), and the percentage of stay time in target quadrant was significantly increased ((16.80±3.27)%, (25.25±5.51)% and (24.18±6.46)%; q=3.36, 4.43, both P<0.05). Compared with VD group, the escape latency of Nrf2 -/- VD group was significantly prolonged on the 5th day ((33.71±9.05) s), and the percentage of stay time in target quadrant was significantly reduced ((10.84±3.26)%)( q=3.56, 3.58; both P<0.05). Compared with Nrf2 -/- VD group, the escape latency and the percentage of stay time in target quadrant in Nrf2 -/- NBP group had no significant difference ( P>0.05). (2) Pathological results showed that, compared with VD group, the damage of pyramidal neurons in CA1 area of hippocampus in Sham group and Nrf2 + /+ NBP group was lighter, and that in Nrf2 -/- VD group was more serious, and the improvement of neuron morphology was not obvious after NBP treatment.(3) The expression of apoptosis: compared with VD group, the expression of caspase-3 and caspase-9 in the CA1 area of hippocampus in Sham group and Nrf2 + /+ NBP group were significantly lower, and those in Nrf2 -/-VD group were significantly higher ( t=3.48, 2.95, 3.46, 2.93, -2.99, -3.77, all P<0.01). Compared with Nrf2 -/-VD group, the expression of caspase- 3 and caspase-9 in the CA1 area of hippocampus in Nrf2 -/-NBP group were not significantly changed (both P>0.05). (4) Expression of related proteins: compared with VD group, Nrf2, SIRT3, p62 protein expression increased, LC3II/I ratio decreased in Nrf2 + /+ NBP group( t=-3.24, -4.04, -4.03, 3.62, all P<0.01); Nrf2, LC3II/ I ratio decreased, SIRT3, p62 protein expression increased in Sham group( t=3.44, 4.72, -3.52, -4.19, all P<0.01); Nrf2, SIRT3, p62 protein expression decreased and LC3II/I ratio increased in Nrf2 -/-VD group( t=9.14, 4.20, 4.30, -3.78, all P<0.01); Compared with Nrf2 -/- NBP, the expression of Nrf2, SIRT3, p62 decreased, and LC3II/I ratio increased in Nrf2 -/-VD group( t=2.40, 3.24, 1.21, -1.16, all P<0.01). The expression of Nrf2, SIRT3, p62 protein in Nrf2 + /+ NBP group increased, and the ratio of LC3II/ I decreased ( t=-3.29, -5.00, 6.24, all P<0.01). Conclusion:Butylphthalide can reduce the apoptotic damage in hippocampus of VD mice and improve cognitive dysfunction caused by repeated ischemia-reperfusion injury.Regulating Nrf2 / SIRT3 pathway to inhibit hippocampal neuronal apoptosis and autophagy may be its role mechanism.

18.
Article in Chinese | WPRIM | ID: wpr-754163

ABSTRACT

Haze pollution is a mixture of many substances,the main components of which are sulfur dioxide,nitrogen oxides and particulate matter (PM). The study found that PM2. 5 not only affects the respir-atory and cardiovascular system,but also affects cognitive function,resulting in cognitive impairment such as memory loss and executive function decline. With the increase of PM2. 5 concentration,cognitive function gradually declines. Haze can cause organic changes in brain tissue. Studies have shown that haze can cause inflammation,oxidative stress response,neurodegeneration and other central nervous system damage,and lead to cognitive impairment by interfering with gene expression and regulation process. Haze increases the risk of cardiovascular and cerebrovascular diseases,mediates emotional and behavioral changes,thus indirectly af-fecting cognitive function. Therefore,in areas with severe haze,it is necessary to take more active measures to reduce the degree of haze and minimize haze damage.

19.
Article in Chinese | WPRIM | ID: wpr-803098

ABSTRACT

Early days in life can not only affect people′s physiology, immune system, metabolism and structural development, but also can alter body cell functions in long term, which in turn has an impact on human′s health and diseases both in short and long term.Thus, early days, especially the first thousand days in life play an important role in human health and is thought to be a key period for preventing certain diseases later in life, which is under heated investigation.However, the mechanisms for this impact are not clear.This review emphasizes the importance of the first thousand days in human life and elucidates its association with human health from multiple aspects.

20.
Article in Chinese | WPRIM | ID: wpr-823677

ABSTRACT

Early days in life can not only affect people's physiology,immune system,metabolism and structural development,but also can alter body cell functions in long term,which in turn has an impact on human's health and diseases both in short and long term.Thus,early days,especially the first thousand days in life play an important role in human health and is thought to be a key period for preventing certain diseases later in life,which is under heated investigation.However,the mechanisms for this impact are not clear.This review emphasizes the importance of the first thousand days in human life and elucidates its association with human health from multiple aspects.

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