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  1. Article: MiR-539-5p inhibits the inflammatory injury in septic H9c2 cells by regulating IRAK3

    Hu, Xiaochen / Miao, Hongjun

    Molecular biology reports. 2022 Jan., v. 49, no. 1

    2022  

    Abstract: BACKGROUND: MicroRNAs (miRNAs) have been confirmed to play a potential role in sepsis, but little is known about their role in sepsis-induced cardiomyopathy (SIC). METHODS: The model of septic cardiomyopathy was constructed with H9c2 cells induced by ... ...

    Abstract BACKGROUND: MicroRNAs (miRNAs) have been confirmed to play a potential role in sepsis, but little is known about their role in sepsis-induced cardiomyopathy (SIC). METHODS: The model of septic cardiomyopathy was constructed with H9c2 cells induced by lipopolysaccharide (LPS), and the expression of miR-539-5p was detected by qRT-PCR assay. ELISA, CCK-8, EdU TUNEL analysis were performed to evaluate the role of miR-539-5p in inflammation response, viability, proliferation and apoptosis of LPS-treated H9c2 cells. Moreover, miRWalk and TargetScan prediction, and dual-luciferase reporter gene assays were carried out to predict and confirm the target of miR-539-5p. Furthermore, the effects of target on inflammation response, proliferation and apoptosis of LPS-induced H9c2 cells mediated by miR-539-5p was further explored. RESULTS: The expression of miR-539-5p was obviously down-regulated in LPS-induced H9c2 cells. In addition, over-expression of miR-539-5p significantly inhibited the inflammation response, promoted viability and proliferation, and suppressed apoptosis of LPS-treated H9c2 cells. Moreover, interleukin-1 receptor-associated kinase 3 (IRAK3) was verified as a target of miR-539-5p by dual-luciferase reporter gene assay. Besides, IRAK3 was highly expressed in H9c2 cells transfected with miR-539-5p inhibitor detected with qRT-PCR and western blot assays. Furthermore, over-expression of IRAK3 partially weakened the effects of miR-539-5p mimic on the inflammation response, proliferation and apoptosis of LPS-induced H9c2 cells. CONCLUSIONS: MiR-539-5p potentially plays an important role in the pathogenesis of LPS-induced sepsis by targeting IRAK3, suggesting that miR-539-5p may be a potential new target for the treatment of LPS-induced sepsis.
    Keywords Western blotting ; apoptosis ; cardiomyopathy ; inflammation ; interleukin-1 ; lipopolysaccharides ; microRNA ; models ; molecular biology ; pathogenesis ; prediction ; reporter genes ; viability
    Language English
    Dates of publication 2022-01
    Size p. 121-130.
    Publishing place Springer Netherlands
    Document type Article
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-021-06849-1
    Database NAL-Catalogue (AGRICOLA)

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  2. Article: Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report.

    Pan, Meiling / Shi, Jun / Miao, Hongjun / Zhang, Qin

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1097063

    Abstract: Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease, which can be classified into 4 types according to the symptom onset age and the highest physical developmental milestone. Among them, type 1 SMA is the most severe form that ... ...

    Abstract Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease, which can be classified into 4 types according to the symptom onset age and the highest physical developmental milestone. Among them, type 1 SMA is the most severe form that affects infants younger than 6 months. Permanent assisted ventilation is usually needed for infants with type 1 SMA before the age of 2 years due to the rapid progression of disease. Nusinersen can improve the motor function of SMA patients, but its effect on respiratory function varies. In the present study, we reported a case of child with type 1 SMA who was successfully weaned from the invasive respiratory support after nusinersen treatment.
    Case presentation: A girl aged 6 years and 5 months was admitted for SMA in the Children's Hospital of Nanjing Medical University for 18 times. She received the first administration of nusinersen in November 2020 at the age of 5 years and 1 month. At the age of 6 years and 1 month following 6 loading doses, we tried to wean the child from the invasive ventilation for non-invasive respiratory support using a nasal mask. At present, the patient shows oxygen saturation (SpO
    Conclusions: We reported a child with type 1 SMA who was successfully weaned from the 2-years invasive ventilation after 6 loading doses, and now only need non-invasive ventilation 12 h per day. It is suggested that even a late nusinersen treatment can improve respiratory and motor function in SMA patients, and wean them from mechanical ventilation, thus improve the quality of life and reduce the medical cost.
    Language English
    Publishing date 2023-02-15
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1097063
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: [Risk factors for progression to severe pneumonia in children visiting the emergency department with pneumonia].

    Cao, Yuanyuan / Zhao, Li / Miao, Hongjun

    Zhonghua wei zhong bing ji jiu yi xue

    2023  Volume 35, Issue 5, Page(s) 528–532

    Abstract: Objective: To determine the risk factors for developing severe pneumonia in children under 5 years old with pneumonia.: Methods: A case-control study was conducted 246 children with pneumonia between 2 and 59 months old who were admitted to the ... ...

    Abstract Objective: To determine the risk factors for developing severe pneumonia in children under 5 years old with pneumonia.
    Methods: A case-control study was conducted 246 children with pneumonia between 2 and 59 months old who were admitted to the department of emergency of the Children's Hospital of Nanjing Medical University from May 2019 to May 2021 were enrolled. The children with pneumonia were screened according to the diagnostic criteria of the World Health Organization (WHO). Case information of the children was reviewed to obtain relevant socio-demographic, nutritional status and potential risk factors. The independent risk factors for severe pneumonia were analyzed by univariate analysis and multivariate Logistic regression respectively.
    Results: Among the 246 patients with pneumonia, 125 were male and 121 were female. The average age was (21.0±2.9) months, 184 children with severe pneumonia. The results of population epidemiological characteristics showed that there were no significant differences in gender, age and place of residence between the severe pneumonia group and the pneumonia group. Prematurity, low birth weight, congenital malformation, anemia, length of intensive care unit (ICU) stay, nutritional support, treatment delay, malnutrition, invasive treatment, history of respiratory infection were all related factors affecting the occurrence of severe pneumonia (severe pneumonia group vs. pneumonia group: the proportion of premature infants was 9.52% vs. 1.23%, low birth weight was 19.05% vs. 6.79%, congenital malformation was 22.62% vs. 9.26%, anemia was 27.38% vs. 16.05%, length of ICU stay < 48 hours was 63.10% vs. 38.89%, enteral nutritional support was 34.52% vs. 20.99%, treatment delay was 42.86% vs. 29.63%, malnutrition was 27.38% vs. 8.64%, invasive treatment was 9.52% vs. 1.85%, respiratory tract infection history was 67.86% vs. 40.74%, all P > 0.05). However, breastfeeding, type of infection, nebulization, use of hormones, use of antibiotics, etc. were not risk factors affecting severe pneumonia. Multivariate Logistic regression analysis showed that history of premature birth, low birth weight, congenital malformation, treatment delay, malnutrition, invasive treatment, and history of respiratory infection were independent risk factors for severe pneumonia [history of premature birth: odds ratio (OR) = 2.346, 95% confidence interval (95%CI) was 1.452-3.785; low birth weight: OR = 15.784, 95%CI was 5.201-47.946; congenital malformation: OR = 7.135, 95%CI was 1.519-33.681; treatment delay: OR = 11.541, 95%CI was 2.734-48.742; malnutrition: OR = 14.453, 95%CI was 4.264-49.018; invasive treatment: OR = 6.373, 95%CI was 1.542-26.343; history of respiratory infection: OR = 5.512, 95%CI was 1.891-16.101, all P < 0.05].
    Conclusions: Premature birth history, low birth weight, congenital malformation, delayed treatment, malnutrition, invasive treatment, and history of respiratory infection are independent risk factors for severe pneumonia in children under 5 years old.
    MeSH term(s) Infant ; Pregnancy ; Humans ; Child ; Female ; Male ; Child, Preschool ; Case-Control Studies ; Premature Birth ; Pneumonia ; Respiratory Tract Infections ; Emergency Service, Hospital ; Malnutrition
    Language Chinese
    Publishing date 2023-06-12
    Publishing country China
    Document type English Abstract ; Journal Article
    ISSN 2095-4352
    ISSN 2095-4352
    DOI 10.3760/cma.j.cn121430-20220315-00248
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Association of SH2 domain-containing protein 1A, immunoglobulins and T lymphocyte subsets with Epstein- Barr virus infections.

    Xu, Penghong / Zhou, Jinsu / Xiao, Yue / Miao, Hongjun

    The Turkish journal of pediatrics

    2023  Volume 65, Issue 4, Page(s) 603–610

    Abstract: Background: We aimed to analyze the levels and associations of SH2 domain-containing protein 1A (SH2D1A), immunoglobulins and T lymphocyte (TL) subsets in children with Epstein-Barr virus (EBV) infections.: Methods: Sixty children with EBV infections ...

    Abstract Background: We aimed to analyze the levels and associations of SH2 domain-containing protein 1A (SH2D1A), immunoglobulins and T lymphocyte (TL) subsets in children with Epstein-Barr virus (EBV) infections.
    Methods: Sixty children with EBV infections admitted from January 2019 to January 2022 were selected, including 29 cases of infectious mononucleosis (IM group) and 31 cases of chronic active EBV infections (CAEBV group). Another 42 healthy children undergoing physical examination in the same period were selected as a control group. Their changes in SH2D1A, immunoglobulins and TL subsets (CD3+, CD4+ and CD8+) were compared.
    Results: The levels of CD3+, CD4+ and CD8+ in the IM group were higher than those of the control group (P < 0.05), while they were lower in the CAEBV group than those of the control and IM groups (P < 0.05). The levels of SH2D1A, signaling lymphocyte activation molecule (SLAM) and SLAM-associated protein (SAP) were significantly higher in the IM group than those in the control and CAEBV groups (P < 0.05). The CAEBV group had decreased protein expressions of SLAM and SAP compared with those of the IM group. SH2D1A was positively correlated with immunoglobulin A, immunoglobulin G and TL subsets (CD3+, CD4+ and CD8+) (P < 0.05).
    Conclusions: Detecting SH2D1A, immunoglobulins and TLs contributes to the diagnosis and differentiation of IM and CAEBV.
    MeSH term(s) Child ; Humans ; Epstein-Barr Virus Infections/complications ; Signaling Lymphocytic Activation Molecule Associated Protein/genetics ; src Homology Domains ; Herpesvirus 4, Human ; Immunoglobulin G ; T-Lymphocyte Subsets
    Chemical Substances Signaling Lymphocytic Activation Molecule Associated Protein ; Immunoglobulin G
    Language English
    Publishing date 2023-09-04
    Publishing country Turkey
    Document type Journal Article
    ZDB-ID 123487-0
    ISSN 2791-6421 ; 0041-4301
    ISSN (online) 2791-6421
    ISSN 0041-4301
    DOI 10.24953/turkjped.2022.1128
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: MiR-539-5p inhibits the inflammatory injury in septic H9c2 cells by regulating IRAK3.

    Hu, Xiaochen / Miao, Hongjun

    Molecular biology reports

    2021  Volume 49, Issue 1, Page(s) 121–130

    Abstract: Background: MicroRNAs (miRNAs) have been confirmed to play a potential role in sepsis, but little is known about their role in sepsis-induced cardiomyopathy (SIC).: Methods: The model of septic cardiomyopathy was constructed with H9c2 cells induced ... ...

    Abstract Background: MicroRNAs (miRNAs) have been confirmed to play a potential role in sepsis, but little is known about their role in sepsis-induced cardiomyopathy (SIC).
    Methods: The model of septic cardiomyopathy was constructed with H9c2 cells induced by lipopolysaccharide (LPS), and the expression of miR-539-5p was detected by qRT-PCR assay. ELISA, CCK-8, EdU TUNEL analysis were performed to evaluate the role of miR-539-5p in inflammation response, viability, proliferation and apoptosis of LPS-treated H9c2 cells. Moreover, miRWalk and TargetScan prediction, and dual-luciferase reporter gene assays were carried out to predict and confirm the target of miR-539-5p. Furthermore, the effects of target on inflammation response, proliferation and apoptosis of LPS-induced H9c2 cells mediated by miR-539-5p was further explored.
    Results: The expression of miR-539-5p was obviously down-regulated in LPS-induced H9c2 cells. In addition, over-expression of miR-539-5p significantly inhibited the inflammation response, promoted viability and proliferation, and suppressed apoptosis of LPS-treated H9c2 cells. Moreover, interleukin-1 receptor-associated kinase 3 (IRAK3) was verified as a target of miR-539-5p by dual-luciferase reporter gene assay. Besides, IRAK3 was highly expressed in H9c2 cells transfected with miR-539-5p inhibitor detected with qRT-PCR and western blot assays. Furthermore, over-expression of IRAK3 partially weakened the effects of miR-539-5p mimic on the inflammation response, proliferation and apoptosis of LPS-induced H9c2 cells.
    Conclusions: MiR-539-5p potentially plays an important role in the pathogenesis of LPS-induced sepsis by targeting IRAK3, suggesting that miR-539-5p may be a potential new target for the treatment of LPS-induced sepsis.
    MeSH term(s) Animals ; Apoptosis/drug effects ; Cell Line ; Cell Proliferation/drug effects ; Humans ; Interleukin-1 Receptor-Associated Kinases/genetics ; Interleukin-1 Receptor-Associated Kinases/metabolism ; Lipopolysaccharides/adverse effects ; MicroRNAs/genetics ; Models, Biological ; Myocytes, Cardiac/cytology ; Myocytes, Cardiac/drug effects ; Myocytes, Cardiac/metabolism ; Rats ; Sepsis/genetics ; Sepsis/metabolism ; Transfection
    Chemical Substances Lipopolysaccharides ; MIRN539 microRNA, rat ; MicroRNAs ; Interleukin-1 Receptor-Associated Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2021-11-10
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-021-06849-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: miR-16-5p aggravates sepsis-associated acute kidney injury by inducing apoptosis.

    Li, Han / Duan, Junyan / Zhang, Tongtong / Fu, Yingjie / Xu, Yue / Miao, Hongjun / Ge, Xuhua

    Renal failure

    2024  Volume 46, Issue 1, Page(s) 2322688

    Abstract: Sepsis-associated acute kidney injury (S-AKI) is a common disease in pediatric intensive care units (ICU) with high morbidity and mortality. The newly discovered results indicate that microRNAs (miRNAs) play an important role in the diagnosis and ... ...

    Abstract Sepsis-associated acute kidney injury (S-AKI) is a common disease in pediatric intensive care units (ICU) with high morbidity and mortality. The newly discovered results indicate that microRNAs (miRNAs) play an important role in the diagnosis and treatment of S-AKI and can be used as markers for early diagnosis. In this study, the expression level of miR-16-5p was found to be significantly upregulated about 20-fold in S-AKI patients, and it also increased by 1.9 times in the renal tissue of S-AKI mice. Receiver operating characteristic (ROC) curve analysis showed that miR-16-5p had the highest predictive accuracy in the diagnosis of S-AKI (AUC = 0.9188).
    MeSH term(s) Child ; Humans ; Animals ; Mice ; Lipopolysaccharides ; MicroRNAs ; Acute Kidney Injury/genetics ; Apoptosis ; Sepsis/complications ; Sepsis/genetics
    Chemical Substances Lipopolysaccharides ; MicroRNAs ; MIRN16 microRNA, human
    Language English
    Publishing date 2024-03-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 632949-4
    ISSN 1525-6049 ; 0886-022X
    ISSN (online) 1525-6049
    ISSN 0886-022X
    DOI 10.1080/0886022X.2024.2322688
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Clinical observation of glucocorticoid therapy for critically ill patients with COVID-19 pneumonia.

    Zhu, Yingjie / Chen, Dongmei / Zhu, Yanfang / Ge, Xuhua / Li, Zhuo / Miao, Hongjun

    The Journal of international medical research

    2023  Volume 51, Issue 2, Page(s) 3000605221149292

    Abstract: Objective: We aimed to investigate the clinical effects of intravenous glucocorticoid (GC) therapy for severe COVID-19 pneumonia.: Methods: Seventy-two patients hospitalized with severe COVID-19 pneumonia who were discharged or died between 5 January ...

    Abstract Objective: We aimed to investigate the clinical effects of intravenous glucocorticoid (GC) therapy for severe COVID-19 pneumonia.
    Methods: Seventy-two patients hospitalized with severe COVID-19 pneumonia who were discharged or died between 5 January 2020 and 3 March 2020 at Huangshi Infectious Disease Hospital were included. Patients were divided into a treatment group (GC group) and non-treatment group (non-GC group) according to whether they had received GCs within 7 days of hospital admission.
    Results: There was no significant difference between groups for Acute Physiology and Chronic Health Evaluation (APACHE) II score and 28-day survival rate. The rate of invasive mechanical ventilation was higher in the GC group than in the non-GC group. On day 7 after admission, the GC group had shorter fever duration and higher white blood cell count than the non-GC group. In subgroup analysis by age and severity, there was no significant difference in 28-day survival rate and other indicators. Compared with those in the non-GC group, patients in the GC group more frequently required admission to the intensive care unit.
    Conclusion: In the present study, we found no significant improvement in patients with severe COVID-19 pneumonia treated with GCs within 7 days of admission.
    MeSH term(s) Humans ; COVID-19 ; Glucocorticoids/therapeutic use ; Critical Illness/therapy ; Intensive Care Units ; Hospitalization ; Retrospective Studies
    Chemical Substances Glucocorticoids
    Language English
    Publishing date 2023-02-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 184023-x
    ISSN 1473-2300 ; 0300-0605 ; 0142-2596
    ISSN (online) 1473-2300
    ISSN 0300-0605 ; 0142-2596
    DOI 10.1177/03000605221149292
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Clinical Characteristics and Death Risk Factors of Severe Sepsis in Children.

    Zhang, Ying / Cao, Buqing / Cao, Weihong / Miao, Hongjun / Wu, Lihui

    publication RETRACTED

    Computational and mathematical methods in medicine

    2022  Volume 2022, Page(s) 4200605

    Abstract: Sepsis is a systemic inflammatory response syndrome caused by viral infection. The circulatory dysfunction caused by sepsis is also called septic shock or septic shock. The main characteristics are rapid onset, rapid changes, and involvement. Multiple ... ...

    Abstract Sepsis is a systemic inflammatory response syndrome caused by viral infection. The circulatory dysfunction caused by sepsis is also called septic shock or septic shock. The main characteristics are rapid onset, rapid changes, and involvement. Multiple organs in the body make diagnosis difficult, which seriously threatens the survival of patients. As many as one million people worldwide die every year because of SIRS, it is also the leading cause of death among children in hospital ICUs. This article is aimed at studying the clinical characteristics of severe sepsis in children and the risk factors for death. Based on the analysis of the pathogenesis of sepsis and the treatment of septic shock, 65 cases of children with PICU sepsis admitted to a hospital were selected. Data, to study its clinical characteristics and risk factors for death. The results of the study showed that despite the interaction among the removal factors of the three indexes of serum lactic acid value, PCIS level, and the number of organs involved in MODS, they are still related to the mortality of children with severe sepsis.
    MeSH term(s) Apoptosis ; Bacterial Infections/complications ; Child ; Child, Preschool ; China/epidemiology ; Computational Biology ; Cytokines/biosynthesis ; Disseminated Intravascular Coagulation/complications ; Female ; Humans ; Immunity, Innate ; Infant ; Intensive Care Units, Pediatric ; Male ; Multiple Organ Failure/diagnosis ; Multiple Organ Failure/etiology ; Multiple Organ Failure/mortality ; Retrospective Studies ; Risk Factors ; Sepsis/diagnosis ; Sepsis/etiology ; Sepsis/mortality ; Shock, Septic/etiology ; Shock, Septic/mortality ; Shock, Septic/therapy
    Chemical Substances Cytokines
    Language English
    Publishing date 2022-01-24
    Publishing country United States
    Document type Journal Article ; Retracted Publication
    ZDB-ID 2252430-7
    ISSN 1748-6718 ; 1748-670X ; 1027-3662
    ISSN (online) 1748-6718
    ISSN 1748-670X ; 1027-3662
    DOI 10.1155/2022/4200605
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.

    Li, Jian / Miao, Hongjun / Wu, Lihui / Fang, Yongjun

    Medicine

    2020  Volume 99, Issue 24, Page(s) e20505

    Abstract: Introduction: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting ... ...

    Abstract Introduction: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting symptom of the patients with X-linked hyper-IgM syndrome.
    Patient concerns: Here, we report a 10-month-old infant who presented with cyanosis and shortness of breath. The infant exhibited no medical or birth history indicating a primary immune deficiency and was first diagnosed with interstitial pneumonia and acute respiratory failure on admission.
    Diagnoses: The infant was diagnosed with Pneumocystis jirovecii pneumonia combined with CMV and fungal infection through gene sequencing by nasopharyngeal swab and G-test. Whole-exome sequencing from a blood sample was performed and identified a functional mutation across the CD40 ligand gene (NM_000074;exon1;C.86_87del) resulting in an amino acid change (P.T29Sfl*18) attributed to X-linked hyper IgM syndrome.
    Interventions: The infant received continuous positive airway pressure ventilation treatment combined with trimethoprim-sulfamethoxazole for Pneumocystis jirovecii pneumonia, ganciclovir for CMV, voriconazole for fungal infection and substitution of high-dose immunoglobulin.
    Outcomes: Six months after discharge from our hospital, the infant remained well.
    Conclusion: Opportunistic infections should be suspected in infants presenting with severe interstitial pneumonia. Primary immune deficiency diseases should also be considered in infants diagnosed with opportunistic infections.
    MeSH term(s) CD40 Ligand/genetics ; Humans ; Hyper-IgM Immunodeficiency Syndrome, Type 1/complications ; Hyper-IgM Immunodeficiency Syndrome, Type 1/diagnostic imaging ; Infant ; Lung Diseases, Interstitial/diagnostic imaging ; Lung Diseases, Interstitial/genetics ; Male ; Tomography, X-Ray Computed
    Chemical Substances CD40 Ligand (147205-72-9)
    Language English
    Publishing date 2020-06-15
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80184-7
    ISSN 1536-5964 ; 0025-7974
    ISSN (online) 1536-5964
    ISSN 0025-7974
    DOI 10.1097/MD.0000000000020505
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.

    Zeng, Jingxia / Hao, Jing / Zhou, Wei / Zhou, Zhaoqun / Miao, Hongjun

    Frontiers in pediatrics

    2021  Volume 9, Page(s) 773112

    Abstract: COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first ...

    Abstract COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C>T, p.R281W mutation. The arginine at position 281 was located in a highly evolutionary-conserved region. Immunosuppressive drugs and corticosteroids might not improve the long-term outcome of COPA patients. For patients with pulmonary disease, polyarthritis and/or kidney disorder, and suspected of COPA, genetic analysis should be conducted promptly for early diagnosis.
    Language English
    Publishing date 2021-11-24
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.773112
    Database MEDical Literature Analysis and Retrieval System OnLINE

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