Acute necrotizing encephalopathy and a carnitine palmitoyltransferase 2 variant in an adult

Kobayashi, Yuya; Kanazawa, H; Hoshino, Ai; Takamatsu, Ryota; Watanabe, Rie; Hoshi, Kenichi; Ishii, Wataru; Yahikozawa, Hiroyuki; Mizuguchi, Masashi; Sato, Shunichi

doi:10.1016/j.jocn.2018.11.045

Cited by 12 publications

(8 citation statements)

References 5 publications

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“…T lymphocytes mainly mediate cellular immunity, and at the same time, can regulate humoral immunity. There are many CD molecules on the surface of T cells, such as CD3, CD4 and CD8, which are widely involved in the whole process of T cell recognition, activation, proliferation, apoptosis and elimination of allogeneic antigen [ 23 ]. The surface antigen of T lymphocytes is divided into the CD4 subgroup and the CD8 subgroup.…”

Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis

et al. 2022

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Background Autoimmune encephalitis (AE) is a type of encephalopathy mediated by an antigenic immune response in the central nervous system. Most research related to autoimmune encephalitis (AE) is focused on early diagnosis, treatment and prognosis analysis; there has been little research conducted on the characteristics of immune function, and the relationship between immune function and prognoses of patients with autoimmune encephalitis needs to be studied further. Methods A total of 33 children with autoimmune encephalitis were identified through the clinic database and inpatient consults at Tianjin Children’s Hospital from January 2013 to January 2021. Based on the one-year follow-up and the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group and a poor prognosis group. The immune function characteristics of the two groups of children with autoimmune encephalitis (AE) were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and binary logistic regression was used to analyse the independent risk factors of the prognoses in patients with autoimmune encephalitis (AE). Results The differences in abnormal mental disorders and limb dyskinesia, cognitive impairment, onset types, modified Rankin Scale (mRS) scores at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05). Conclusion There is a close correlation between modified Rankin Scale (mRS) scores and the immune function index CD4/CD8 in children with autoimmune encephalitis (AE) when they are admitted to the hospital. A young age, disturbance of consciousness, limb dyskinesia, abnormal immune function in remission and anti-NMDAR encephalitis are risk factors for poor prognoses in children with autoimmune encephalitis (AE). Clinical treatment requires more attention.

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Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis

et al. 2022

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“…There are many CD molecules on the surface of T-cells, such as CD3, CD4, and CD8, which are widely involved in the whole process of T-cell recognition, activation and proliferation, apoptosis, and elimination of allogeneic antigen. [20] The surface antigen of T-lymphocytes can be divided into a CD4 subgroup and a CD8 subgroup. CD4 cells and CD8 cells coordinate and restrict each other under normal physiological conditions, and the ratio of CD4/CD8 is in dynamic equilibrium.…”

Section: Discussionmentioning

confidence: 99%

Immune Characteristics of Children With Autoimmune Encephalitis and the Correlation With Short-term Prognosis

Huang

Fan

Meng

et al. 2021

Preprint

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Objective: To explore the immune characteristics and short-term prognosis of children with autoimmune encephalitis (AE), then to analyse the relationship between them. Methods: A total of 78 children with AE were identified through the clinic database and inpatient consults in Tianjin Children’s Hospital (238 Long-Yan Road, Bei-Chen District, Tianjin, China) from January 2018 to January 2021. Based on the recent follow-up (one-year follow-up) of the modified Rankin Scale (mRS) prognosis score, they were divided into a good prognosis group (59 cases, mRS <3 points) and a poor prognosis group (19 cases, mRS ≥3 points). The immune function characteristics of the two groups of children with AE were compared using Spearman correlation to analyse the mRS score and immune function indicators (IgA, IgG, IgM, CD4, CD8, CD4/CD8), and using binary logistic regression to analyse the factors affecting the prognosis of children with AE. Results: The differences in age, consciousness disorder, limb dyskinesia, cognitive impairment, onset type, mRS score at admission, and immune function status during remission between the two groups were statistically significant (p < 0.05). The mRS score of the good prognosis group at admission was significantly lower than that of the poor prognosis group (2.65 ± 0.76 vs 3.05 ± 0.71, p ＜ 0.05). IgA (0.61 ± 0.19 vs 0.87 ± 0.25, p < 0.001), IgG (8.17 ± 1.12 vs 9.02 ± 1.39, p = 0.001). IgM (1.01 ± 0.26 vs 1.23 ± 0.33, p < 0.001) in the good prognosis group were significantly lower than those in the poor prognosis group, while CD4 (36.35 ± 8.74 vs 23.89 ± 6.97, p < 0.001) and CD4/CD8 (1.68 ± 0.32 vs 1.01 ± 0.24, p = 0.001) were significantly higher than those in the poor prognosis group. Spearman correlation analysis showed that the mRS score at admission was significantly negatively correlated with CD4/CD8 (r ＝−0.775, p < 0.001), but not significantly correlated with other immune function indexes. Binary logistic regression showed that age (OR = 0.385; 95% CI = 0.200–0.741), consciousness disorder (OR = 39.3569; 95% CI = 4.073–380.262), limb movement disorder (OR = 17.107; 95% CI = 2.769–105.701), and abnormal immune function in remission (OR = 0.050; 95% CI = 0.007–0.372) were risk factors for poor prognosis in children with AE. Conclusion: There is a close correlation between mRS and immune function index CD4/CD8 in children with AE when they are admitted to the hospital. Young age, disturbance of consciousness, limb dyskinesia, and abnormal immune function in remission are risk factors for poor prognosis of children with AE. More attention should be paid in clinical treatment.

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“…The significance of ANE-associated single nucleotide variants in other genes was discussed, in particular, a thermolabile polymorphism in carnitine palmitoyl transferase II [ 117–119 ]. Neilson commented that these SNPs were associated with influenza-associated encephalopathy, which has generalized brain swelling and at first appeared to be different from ANE, but more recent work indicates that individuals carrying both the carnitine palmitoyl transferase II thermolabile variant and ANE mutations in RanBP2/Nup358 have stronger recurrence of episodes.…”

Section: Outstanding Questions and Future Perspectivesmentioning

confidence: 99%

Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy

Palazzo

Joseph

Lim

et al. 2022

Nucleus

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Dominant missense mutations in RanBP2/Nup358 cause Acute Necrotizing Encephalopathy (ANE), a pediatric disease where seemingly healthy individuals develop a cytokine storm that is restricted to the central nervous system in response to viral infection. Untreated, this condition leads to seizures, coma, long-term neurological damage and a high rate of mortality. The exact mechanism by which RanBP2 mutations contribute to the development of ANE remains elusive. In November 2021, a number of clinicians and basic scientists presented their work on this disease and on the interactions between RanBP2/Nup358, viral infections, the innate immune response and other cellular processes.

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Acute necrotizing encephalopathy and a carnitine palmitoyltransferase 2 variant in an adult

Cited by 12 publications

References 5 publications

RETRACTED ARTICLE: Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis

RETRACTED ARTICLE: Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis

Immune Characteristics of Children With Autoimmune Encephalitis and the Correlation With Short-term Prognosis

Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy

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