Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

Li, Haifeng; Zou, Yan; Bao, Xinhua; Wang, Hui; Wang, Jiangping; Jin, Huiying; Che, Yue; Tang, Xiaolin

doi:10.3892/etm.2016.3761

Cited by 4 publications

(3 citation statements)

References 18 publications

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“…As costimulatory signal molecules, CD80 and CD86 widely exist on the surface of DCs and NK cells and participate in cellular immunity. CD80 can promote T cells to differentiate into Th1, while CD86 can induce Th2-mediated humoral immunity, which makes Th1/Th2 unbalanced, thus enlarging abnormal immune response [ 18 ]. In vitro experiments showed that [ 19 ], monoclonal antibody blocked CD80 and CD86 molecules and blocked CD28/B7 pathway, while cytotoxic T cell associated antigen 4 could bind to B7, thus inhibiting the proliferation of T cells.…”

Section: Discussionmentioning

confidence: 99%

Expression of Peripheral Blood DCs CD86, CD80, and Th1/Th2 in Sepsis Patients and Their Value on Survival Prediction

Hao

Luan

2022

Computational and Mathematical Methods in Medicine

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Objective. To explore the expression of peripheral blood dendritic cells (DCs) CD86, CD80, and Th1/Th2 in patients with sepsis and their value on survival prediction. Methods. 118 patients with sepsis from January 2019 to December 2020 were selected, According to the prognosis, the patients were divided into the death group ( n = 46 ) and survival group ( n = 72 ). The general data and pathogen division of the two groups were collected, and the levels of peripheral blood DCs CD86, CD80, and Th1/Th2; APACHE II score; inflammatory factor (procalcitonin (PCT)); and cell growth chemokine (GRO) were compared between the two groups heparin-binding protein (HBP) and myocardial enzyme indexes (creatine kinase (CK), creatine kinase isozyme (CK-MB), and lactate dehydrogenase (LDH)) to explore the relationship between CD86, CD80, Th1/Th2, and various serological indexes and the evaluation value of prognosis. Results. 124 strains of pathogenic bacteria were isolated from 118 patients, including 78 strains of gram-negative bacteria (62.90%), 31 strains of Gram-positive bacteria (25.00%), and 15 strains of fungi (12.10%). The scores of CD86, CD80, Th1, Th2, Th1/Th2, and APACHE II in the dead group were higher than those in the surviving group, and the difference was statistically significant ( P < 0.05 ). PCT, GRO-α, HBP, LDH, CK-MB, and CK levels of patients in death group were higher than those in survival group, and the difference was statistically significant ( P < 0.05 ). The levels of peripheral blood DCs CD86, CD80, and Th1/Th2 were positively correlated with PCT, GRO-α, HBP, LDH, CK-MB, and CK ( P < 0.05 ). ROC curve analysis showed that the AUC of the combined detection of DCs CD86, CD80, and Th1/Th2 in peripheral blood was 0.951, which was higher than 0.882, 0.883, and 0.734 of single index ( P < 0.05 ). Conclusion. All patients with sepsis have immune imbalance, and the peripheral blood CD86, CD80, and Th1/Th2 of the dead patients are higher than those of the survivors. The combined detection of these three indicators has the highest predictive value for the prognosis of patients.

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Section: Discussionmentioning

confidence: 99%

Expression of Peripheral Blood DCs CD86, CD80, and Th1/Th2 in Sepsis Patients and Their Value on Survival Prediction

Hao

Luan

2022

Computational and Mathematical Methods in Medicine

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“…In addition, some MRIs also show thin optic chiasma, signal hyperintensity of the dentate nuclei and white matter, and cerebral cortical atrophy (32). An electromyography (EMG) also shows denervation in the peripheral nervous system (29), and an EEG can reveal the widespread high-amplitude fast activity at 16–22 Hz after 2 years of age (33). Visual evoked potentials (VEPs) and electroretinograms (ERGs) appear normal in the early stage of the disease, followed by an increase in abnormal signs over time (27).…”

Section: The Clinical Phenotypes Of Pla2g6-associated Neurodegenerationmentioning

confidence: 99%

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes

2018

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Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a series of neurodegenerative diseases that result from the mutations in PLA2G6. PLAN has genetic and clinical heterogeneity, with different mutation sites, mutation types and ethnicities and its clinical phenotype is different. The clinical phenotypes and genotypes of PLAN are closely intertwined and vary widely. PLA2G6 encodes a group of VIA calcium-independent phospholipase A2 proteins (iPLA2β), an enzyme involved in lipid metabolism. According to the age of onset and progressive clinical features, PLAN can be classified into the following subtypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD) and parkinsonian syndrome which contains adult onset dystonia parkinsonism (DP) and autosomal recessive early-onset parkinsonism (AREP). In this review, we present an overview of PLA2G6-associated neurodegeneration in the context of current research.

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“…The deafness may be associated with the mutations of PLA2G6 or have other causes, which requires further study. According to the 4 studies available that report on PLA2G6-associated neurodegeneration in China ( 19 – 22 ), 29 different mutations were identified in 28 Chinese pediatric patients with PLA2G6-associated neurodegeneration, of which 14 were novel. However, it remains to be clarified whether and how PLA2G6 mutations lead to hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

Wang

Tang

2018

Exp Ther Med

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Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. Phospholipase A2 group VI (PLA2G6) gene mutations have been identified in the majority of individuals with INAD. The present case report is on a Chinese female pediatric patient (age, 18 months) diagnosed with INAD with deafness. To date, only four cases of INAD with hearing loss have been reported, PLA2G6-association has not been investigated. Next-generation DNA sequencing technology was used to identify disease-associated genes and Sanger sequencing was applied to verify the mutation in the patient's pedigree. Two mutations were identified in the PLA2G6 gene: c.1T>C (E2) and c.497 (E4) to c.496 (E4): Insert C. The distribution frequency of those mutations in the Single Nucleotide Polymorphism, HapMap, 1000 Genomes and Exome Aggregation Consortium databases was 0. However, cases of INAD appear to be underreported, particularly those from China. The identification of two mutations in the present study suggests unique PLA2G6 mutations in Chinese patients, and greatly expands on the spectrum of known mutations in INAD patients.

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Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

Cited by 4 publications

References 18 publications

Expression of Peripheral Blood DCs CD86, CD80, and Th1/Th2 in Sepsis Patients and Their Value on Survival Prediction

Expression of Peripheral Blood DCs CD86, CD80, and Th1/Th2 in Sepsis Patients and Their Value on Survival Prediction

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

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